#ID(s) interactor A ID(s) interactor B Alt. ID(s) interactor A Alt. ID(s) interactor B Alias(es) interactor A Alias(es) interactor B Interaction detection method(s) Publication 1st author(s) Publication Identifier(s) Taxid interactor A Taxid interactor B Interaction type(s) Source database(s) Interaction identifier(s) Confidence value(s) Expansion method(s) Biological role(s) interactor A Biological role(s) interactor B Experimental role(s) interactor A Experimental role(s) interactor B Type(s) interactor A Type(s) interactor B Xref(s) interactor A Xref(s) interactor B Interaction Xref(s) Annotation(s) interactor A Annotation(s) interactor B Interaction annotation(s) Host organism(s) Interaction parameter(s) Creation date Update date Checksum(s) interactor A Checksum(s) interactor B Interaction Checksum(s) Negative Feature(s) interactor A Feature(s) interactor B Stoichiometry(s) interactor A Stoichiometry(s) interactor B Identification method participant A Identification method participant B uniprotkb:P63252 uniprotkb:Q9UJ41-2 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-6448458|ensembl:ENSP00000284957|ensembl:ENSP00000415815 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q9uj41-2(display_long)|uniprotkb:RABGEF1(gene name)|psi-mi:RABGEF1(display_short)|uniprotkb:RABEX5(gene name synonym)|uniprotkb:RAP1(gene name synonym)|uniprotkb:Rabaptin-5-associated exchange factor for Rab5(gene name synonym)|uniprotkb:Rabex-5(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENST00000450873(transcript)|ensembl:ENSG00000154710(gene)|ensembl:ENST00000284957(transcript)|intact:EBI-913954(isoform-parent)|uniprotkb:Q9UJ41-2(isoform-parent) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:+MNigZ2IH2ogPAFA5YTYT0rGWYg9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9UP95 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-7244836|intact:EBI-11577771|uniprotkb:Q13953|uniprotkb:B7ZAV0|uniprotkb:O75893|uniprotkb:O60632|intact:MINT-1191426|uniprotkb:F5H0S9|uniprotkb:B4DZ82|uniprotkb:B4DF69|uniprotkb:Q96LD5|uniprotkb:F5H3C0|uniprotkb:F5H066|uniprotkb:B4DR04|ensembl:ENSP00000318557 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:s12a4_human(display_long)|uniprotkb:SLC12A4(gene name)|psi-mi:SLC12A4(display_short)|uniprotkb:KCC1(gene name synonym)|uniprotkb:Electroneutral potassium-chloride cotransporter 1(gene name synonym)|uniprotkb:Erythroid K-Cl cotransporter 1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001139436.1|refseq:NP_001139433.1|refseq:NP_001139434.1|refseq:NP_005063.1|refseq:NP_001139435.1|interpro:IPR000622(K-Cl Co-transporter, type 1)|interpro:IPR004841(Amino acid permease-associated region)|interpro:IPR004842(Na-K-Cl cotransporter superfamily)|interpro:IPR018491|rcsb pdb:6KKR|rcsb pdb:6KKT|rcsb pdb:6KKU|rcsb pdb:7AIP|rcsb pdb:7AIQ|rcsb pdb:7AIR|reactome:R-HSA-426117|interpro:IPR000076(K-Cl co-transporter)|ensembl:ENSG00000124067(gene)|ensembl:ENST00000316341(transcript)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006811"(ion transport)|go:"GO:0006884"(cell volume homeostasis)|go:"GO:0007268"(chemical synaptic transmission)|go:"GO:0008519"(ammonium transmembrane transporter activity)|go:"GO:0015379"("potassium:chloride symporter activity")|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0045202"(synapse)|go:"GO:0055064"(chloride ion homeostasis)|go:"GO:0055075"(potassium ion homeostasis)|go:"GO:0140157"(ammonium import across plasma membrane)|go:"GO:1902476"(chloride transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane) intact:EBI-27067758(see-also) - comment:mint|comment:homomint|function:"Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May contribute to cell volume homeostasis in single cells. May be involved in the regulation of basolateral Cl(-) exit in NaCl absorbing epithelia (By similarity). Isoform 4 has no transport activity" figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:wyweg+klinikkDDzNhNdIwomyDQ9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9BXJ9 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-1042540|uniprotkb:Q52LG9|uniprotkb:Q8IWH4|uniprotkb:Q8NEV2|uniprotkb:Q9H8P6|uniprotkb:D3DNY6|ensembl:ENSP00000296543 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:naa15_human(display_long)|uniprotkb:NAA15(gene name)|psi-mi:NAA15(display_short)|uniprotkb:GA19(gene name synonym)|uniprotkb:NATH(gene name synonym)|uniprotkb:TBDN100(gene name synonym)|uniprotkb:Gastric cancer antigen Ga19(gene name synonym)|uniprotkb:N-terminal acetyltransferase(gene name synonym)|uniprotkb:Protein tubedown-1(gene name synonym)|uniprotkb:Tbdn100(gene name synonym)|uniprotkb:NARG1(gene name synonym)|uniprotkb:NMDA receptor-regulated protein 1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_476516.1|go:"GO:0016604"(nuclear body)|go:"GO:0017196"(N-terminal peptidyl-methionine acetylation)|go:"GO:0030154"(cell differentiation)|go:"GO:0031415"(NatA complex)|go:"GO:0043022"(ribosome binding)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0050821"(protein stabilization)|interpro:IPR011990(Tetratricopeptide-like helical)|interpro:IPR019734|interpro:IPR021183|mint:Q9BXJ9|rcsb pdb:6C95|rcsb pdb:6C9M|rcsb pdb:6PPL|rcsb pdb:6PW9|ensembl:ENSG00000164134(gene)|ensembl:ENST00000296543(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0003723"(RNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005667"(transcription regulator complex)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006474"(N-terminal protein amino acid acetylation)|go:"GO:0016020"(membrane) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:BGW5jQRBYXuf75thzj6cWvL2A5Y9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q5VZE5 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-9106478|uniprotkb:Q5VZE6|uniprotkb:Q9H631|uniprotkb:Q9H703|ensembl:ENSP00000354972 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:naa35_human(display_long)|uniprotkb:NAA35(gene name)|psi-mi:NAA35(display_short)|uniprotkb:EGAP(gene name synonym)|uniprotkb:MAK10(gene name synonym)|uniprotkb:Embryonic growth-associated protein homolog(gene name synonym)|uniprotkb:Protein MAK10 homolog(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001308810.1|refseq:NP_001308811.1|refseq:NP_078911.3|refseq:XP_005252184.1|ensembl:ENSG00000135040(gene)|ensembl:ENST00000361671(transcript)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006474"(N-terminal protein amino acid acetylation)|go:"GO:0017196"(N-terminal peptidyl-methionine acetylation)|go:"GO:0031417"(NatC complex)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0048659"(smooth muscle cell proliferation)|interpro:IPR007244("Mak10 subunit, NatC N(alpha)-terminal acetyltransferase")|reactome:R-HSA-6811440 intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:SasEnCvEaVP2Q5oYAqsgK76ePb49606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9NQC7 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-2117940|uniprotkb:O94934|uniprotkb:Q7L3N6|uniprotkb:Q96EH0|uniprotkb:Q9NZX9|ensembl:ENSP00000308928|ensembl:ENSP00000392025 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:cyld_human(display_long)|uniprotkb:Ubiquitin thioesterase CYLD(gene name synonym)|uniprotkb:CYLD(gene name)|psi-mi:CYLD(display_short)|uniprotkb:CYLD1(gene name synonym)|uniprotkb:KIAA0849(gene name synonym)|uniprotkb:Ubiquitin-specific-processing protease CYLD(gene name synonym)|uniprotkb:Deubiquitinating enzyme CYLD(gene name synonym)|uniprotkb:HSPC057(orf name) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001035814.1|refseq:NP_001035877.1|refseq:NP_056062.1|refseq:XP_016878467.1|refseq:XP_016878469.1|go:"GO:0007049"(cell cycle)|go:"GO:0007346"(regulation of mitotic cell cycle)|go:"GO:0008270"(zinc ion binding)|go:"GO:0010803"(regulation of tumor necrosis factor-mediated signaling pathway)|go:"GO:0016055"(Wnt signaling pathway)|go:"GO:0016579"(protein deubiquitination)|go:"GO:0005874"(microtubule)|go:"GO:0006511"(ubiquitin-dependent protein catabolic process)|go:"GO:0019901"(protein kinase binding)|go:"GO:0031234"(extrinsic component of cytoplasmic side of plasma membrane)|go:"GO:0032088"(negative regulation of NF-kappaB transcription factor activity)|go:"GO:0032480"(negative regulation of type I interferon production)|go:"GO:0036064"(ciliary basal body)|go:"GO:0045087"(innate immune response)|go:"GO:0046329"(negative regulation of JNK cascade)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050727"(regulation of inflammatory response)|go:"GO:0060544"(regulation of necroptotic process)|go:"GO:0061578"(Lys63-specific deubiquitinase activity)|go:"GO:0070064"(proline-rich region binding)|go:"GO:0070266"(necroptotic process)|go:"GO:0070423"(nucleotide-binding oligomerization domain containing signaling pathway)|go:"GO:0070507"(regulation of microtubule cytoskeleton organization)|go:"GO:0070536"(protein K63-linked deubiquitination)|go:"GO:0090090"(negative regulation of canonical Wnt signaling pathway)|go:"GO:0097542"(ciliary tip)|go:"GO:1901223"(negative regulation of NIK/NF-kappaB signaling)|go:"GO:1902017"(regulation of cilium assembly)|go:"GO:1903753"(negative regulation of p38MAPK cascade)|go:"GO:1990108"(protein linear deubiquitination)|go:"GO:2001238"(positive regulation of extrinsic apoptotic signaling pathway)|go:"GO:2001242"(regulation of intrinsic apoptotic signaling pathway)|interpro:IPR000938(Cytoskeleton-associated protein, CAP-Gly)|interpro:IPR001394(Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2)|interpro:IPR018200|interpro:IPR028889|interpro:IPR036859|interpro:IPR038765|mint:Q9NQC7|rcsb pdb:1IXD|rcsb pdb:1WHL|rcsb pdb:1WHM|rcsb pdb:2VHF|reactome:R-HSA-168638|reactome:R-HSA-5357786|reactome:R-HSA-5357905|reactome:R-HSA-5357956|reactome:R-HSA-5689880|reactome:R-HSA-936440|ensembl:ENSG00000083799(gene)|ensembl:ENST00000311559(transcript)|ensembl:ENST00000427738(transcript)|go:"GO:0004843"(thiol-dependent deubiquitinase)|go:"GO:0005813"(centrosome)|go:"GO:0005819"(spindle)|go:"GO:0005829"(cytosol)|refseq:XP_005255869.1|refseq:XP_006721212.1|refseq:XP_011521209.1|refseq:XP_016878466.1|refseq:XP_016878468.1 intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:Z01woAwtDVaoNnAthw9tTrBqRao9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q99460 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-357874|uniprotkb:Q24JU0|uniprotkb:Q53TI2|uniprotkb:Q6GMU5|uniprotkb:Q6P2P4|uniprotkb:Q6PJM7|uniprotkb:Q6PKG9|uniprotkb:B8ZZH9|uniprotkb:Q86VU1|uniprotkb:Q8IV79|ensembl:ENSP00000309474|ensembl:ENSP00000503068 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:psmd1_human(display_long)|uniprotkb:PSMD1(gene name)|psi-mi:PSMD1(display_short)|uniprotkb:26S proteasome regulatory subunit RPN2(gene name synonym)|uniprotkb:26S proteasome regulatory subunit S1(gene name synonym)|uniprotkb:26S proteasome subunit p112(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001177966.1|refseq:NP_002798.2|dip:DIP-27548N|ensembl:ENSG00000173692(gene)|ensembl:ENST00000308696(transcript)|ensembl:ENST00000677230(transcript)|go:"GO:0000502"(proteasome complex)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005838"(proteasome regulatory particle)|go:"GO:0008540"(proteasome regulatory particle, base subcomplex)|go:"GO:0016020"(membrane)|go:"GO:0022624"(proteasome accessory complex)|go:"GO:0030234"(enzyme regulator activity)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0034515"(proteasome storage granule)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0042176"(regulation of protein catabolic process)|go:"GO:0043161"(proteasome-mediated ubiquitin-dependent protein catabolic process)|interpro:IPR002015(Proteasome/cyclosome, regulatory subunit)|interpro:IPR011989(Armadillo-like helical)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR016642(26S proteasome regulatory complex, non-ATPase subcomplex, Rpn2/Psmd1 subunit)|interpro:IPR035266|interpro:IPR040623|mint:Q99460|rcsb pdb:5GJQ|rcsb pdb:5GJR|rcsb pdb:5L4K|rcsb pdb:5LN3|rcsb pdb:5M32|rcsb pdb:5T0C|rcsb pdb:5T0G|rcsb pdb:5T0H|rcsb pdb:5T0I|rcsb pdb:5T0J|rcsb pdb:5V1Y|rcsb pdb:5V1Z|rcsb pdb:5VFP|rcsb pdb:5VFQ|rcsb pdb:5VFR|rcsb pdb:5VFS|rcsb pdb:5VFT|rcsb pdb:5VFU|rcsb pdb:5VGZ|rcsb pdb:5VHF|rcsb pdb:5VHH|rcsb pdb:5VHI|rcsb pdb:5VHS|rcsb pdb:6CO4|rcsb pdb:6MSB|rcsb pdb:6MSD|rcsb pdb:6MSE|rcsb pdb:6MSG|rcsb pdb:6MSH|rcsb pdb:6MSJ|rcsb pdb:6MSK|rcsb pdb:6OI4|rcsb pdb:6UYI|rcsb pdb:6UYJ|rcsb pdb:6WJD|rcsb pdb:6WJN|reactome:R-HSA-1169091|reactome:R-HSA-1234176|reactome:R-HSA-1236974|reactome:R-HSA-1236978|reactome:R-HSA-174084|reactome:R-HSA-174113|reactome:R-HSA-174154|reactome:R-HSA-174178|reactome:R-HSA-174184|reactome:R-HSA-180534|reactome:R-HSA-180585|reactome:R-HSA-187577|reactome:R-HSA-195253|reactome:R-HSA-202424|reactome:R-HSA-211733|reactome:R-HSA-2467813|reactome:R-HSA-2871837|reactome:R-HSA-349425|reactome:R-HSA-350562|reactome:R-HSA-450408|reactome:R-HSA-4608870|reactome:R-HSA-4641257|reactome:R-HSA-382556|reactome:R-HSA-4641258|reactome:R-HSA-5358346|reactome:R-HSA-5362768|reactome:R-HSA-5607761|reactome:R-HSA-5607764|reactome:R-HSA-5610780|reactome:R-HSA-5610783|reactome:R-HSA-5610785|reactome:R-HSA-5632684|reactome:R-HSA-5658442|reactome:R-HSA-5668541|reactome:R-HSA-5676590|reactome:R-HSA-5678895|reactome:R-HSA-5687128|reactome:R-HSA-5689603|reactome:R-HSA-5689880|reactome:R-HSA-6798695|reactome:R-HSA-68827|reactome:R-HSA-68949|reactome:R-HSA-69017|reactome:R-HSA-69481|reactome:R-HSA-69601|reactome:R-HSA-75815|reactome:R-HSA-8852276|reactome:R-HSA-8854050|reactome:R-HSA-8932339|reactome:R-HSA-8939236|reactome:R-HSA-8939902|reactome:R-HSA-8941858|reactome:R-HSA-8948751|reactome:R-HSA-8951664|reactome:R-HSA-9010553|reactome:R-HSA-9020702|reactome:R-HSA-9604323|reactome:R-HSA-983168 intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:aGYxoT30PhzvF/CiurQLDb8Ewrs9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q15276 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-447043|uniprotkb:O95369|uniprotkb:Q8IVX3|uniprotkb:B2RAG7|ensembl:ENSP00000445408 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:rabe1_human(display_long)|uniprotkb:Rabaptin-5(gene name synonym)|uniprotkb:Rabaptin-5alpha(gene name synonym)|uniprotkb:Rabaptin-4(gene name synonym)|uniprotkb:Renal carcinoma antigen NY-REN-17(gene name synonym)|uniprotkb:RABEP1(gene name)|psi-mi:RABEP1(display_short)|uniprotkb:RABPT5(gene name synonym)|uniprotkb:RABPT5A(gene name synonym)|uniprotkb:RAB5EP(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001278510.1|refseq:NP_001077054.1|refseq:NP_004694.2|dip:DIP-29350N|go:"GO:0008083"(growth factor activity)|go:"GO:0015031"(protein transport)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030139"(endocytic vesicle)|go:"GO:0031901"(early endosome membrane)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0055037"(recycling endosome)|go:"GO:0061025"(membrane fusion)|go:"GO:1903441"(protein localization to ciliary membrane)|interpro:IPR003914(Rabaptin)|interpro:IPR015390(Rabaptin, GTPase-Rab5 binding)|interpro:IPR018514|interpro:IPR029880|rcsb pdb:1P4U|rcsb pdb:1TU3|rcsb pdb:1X79|rcsb pdb:4N3Y|rcsb pdb:4N3Z|rcsb pdb:4Q9U|reactome:R-HSA-8854214|ensembl:ENSG00000029725(gene)|ensembl:ENST00000537505(transcript)|go:"GO:0005096"(GTPase activator activity)|go:"GO:0005768"(endosome)|go:"GO:0005769"(early endosome)|go:"GO:0006893"(Golgi to plasma membrane transport)|go:"GO:0006897"(endocytosis)|go:"GO:0006915"(apoptotic process) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:FDHgN8w6jbAPC3iQfeLY6sdLkrs9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q6NUQ4 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-372318|uniprotkb:A6NNF2|uniprotkb:Q53SW1|uniprotkb:Q69YH4|uniprotkb:Q8WZ37|uniprotkb:Q9NXH2|uniprotkb:Q8NC45|uniprotkb:B3KUI9|uniprotkb:B5MCD8|ensembl:ENSP00000238788|ensembl:ENSP00000319469|uniprotkb:D6W547 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:tm214_human(display_long)|uniprotkb:TMEM214(gene name)|psi-mi:TMEM214(display_short)|uniprotkb:PP446(orf name) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000119777(gene)|ensembl:ENST00000238788(transcript)|ensembl:ENST00000321326(transcript)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0005881"(cytoplasmic microtubule)|go:"GO:0006915"(apoptotic process)|go:"GO:0016021"(integral component of membrane)|interpro:IPR019308|mint:Q6NUQ4|refseq:NP_001077059.1|refseq:NP_060197.4 intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:Yx4jp39AqeiXqOJVzMMRqRgk8449606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P30101 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-979862|uniprotkb:Q13453|uniprotkb:Q14255|uniprotkb:Q8IYF8|uniprotkb:Q9UMU7|ensembl:ENSP00000300289 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:pdia3_human(display_long)|uniprotkb:Disulfide isomerase ER-60(gene name synonym)|uniprotkb:Endoplasmic reticulum resident protein 60(gene name synonym)|uniprotkb:58 kDa microsomal protein(gene name synonym)|uniprotkb:Endoplasmic reticulum resident protein 57(gene name synonym)|uniprotkb:58 kDa glucose-regulated protein(gene name synonym)|uniprotkb:PDIA3(gene name)|psi-mi:PDIA3(display_short)|uniprotkb:ERP60(gene name synonym)|uniprotkb:GRP58(gene name synonym)|uniprotkb:ERP57(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 interpro:IPR036249|interpro:IPR041868|mint:P30101|rcsb pdb:2ALB|rcsb pdb:2DMM|rcsb pdb:2H8L|rcsb pdb:3F8U|rcsb pdb:6ENY|reactome:R-HSA-1236974|reactome:R-HSA-901042|reactome:R-HSA-983170|interpro:IPR017937|ensembl:ENSG00000167004(gene)|ensembl:ENST00000300289(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003756"(protein disulfide isomerase activity)|go:"GO:0004197"(cysteine-type endopeptidase activity)|go:"GO:0004629"(phospholipase C activity)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005788"(endoplasmic reticulum lumen)|go:"GO:0005925"(focal adhesion)|go:"GO:0006457"(protein folding)|go:"GO:0009986"(cell surface)|go:"GO:0015035"(protein-disulfide reductase activity)|go:"GO:0015036"(disulfide oxidoreductase activity)|go:"GO:0034975"(protein folding in endoplasmic reticulum)|go:"GO:0034976"(response to endoplasmic reticulum stress)|go:"GO:0042470"(melanosome)|go:"GO:0042802"(identical protein binding)|go:"GO:0042824"(MHC class I peptide loading complex)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0055038"(recycling endosome membrane)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098761"(cellular response to interleukin-7)|go:"GO:2001238"(positive regulation of extrinsic apoptotic signaling pathway)|interpro:IPR005788(Disulphide isomerase)|interpro:IPR005792(Protein disulphide isomerase)|interpro:IPR013766(Thioredoxin domain)|refseq:NP_005304.3|dip:DIP-29132N intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:N/XktiLWB/cPju9nCq6yeyXnO1Q9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P13667 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-1054653|uniprotkb:A8K4K6|uniprotkb:Q549T6|ensembl:ENSP00000499129 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:pdia4_human(display_long)|uniprotkb:Endoplasmic reticulum resident protein 72(gene name synonym)|uniprotkb:PDIA4(gene name)|psi-mi:PDIA4(display_short)|uniprotkb:ERP70(gene name synonym)|uniprotkb:ERP72(gene name synonym)|uniprotkb:Endoplasmic reticulum resident protein 70(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_004902.1|ensembl:ENSG00000155660(gene)|ensembl:ENST00000652332(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0003756"(protein disulfide isomerase activity)|go:"GO:0005615"(extracellular space)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005788"(endoplasmic reticulum lumen)|go:"GO:0006457"(protein folding)|go:"GO:0009306"(protein secretion)|go:"GO:0009986"(cell surface)|go:"GO:0015035"(protein-disulfide reductase activity)|go:"GO:0034976"(response to endoplasmic reticulum stress)|go:"GO:0042470"(melanosome)|go:"GO:0061077"(chaperone-mediated protein folding)|interpro:IPR005788(Disulphide isomerase)|interpro:IPR005792(Protein disulphide isomerase)|interpro:IPR013766(Thioredoxin domain)|interpro:IPR017068(Protein disulphide-isomerase A4)|interpro:IPR017937|interpro:IPR036249|interpro:IPR041866|mint:P13667|rcsb pdb:3IDV intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:m9nI8RSOEnIsBjDnQa4fbkT+v2Y9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O75323-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067934|ensembl:ENSP00000313050 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:o75323-1(display_long)|uniprotkb:Glioblastoma-amplified sequence(gene name synonym)|uniprotkb:NIPSNAP2(gene name)|psi-mi:NIPSNAP2(display_short)|uniprotkb:GBAS(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000146729(gene)|ensembl:ENST00000322090(transcript)|intact:EBI-307133(isoform-parent) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:sfBQGdtSVoH21kBu/Bz9x8x3KWU9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q15643 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-1047183|uniprotkb:O14689|uniprotkb:O15154|uniprotkb:O95949|uniprotkb:B2RUT2|uniprotkb:Q6MZL5|ensembl:ENSP00000267622 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:tripb_human(display_long)|uniprotkb:Golgi-associated microtubule-binding protein 210(gene name synonym)|uniprotkb:Clonal evolution-related gene on chromosome 14 protein(gene name synonym)|uniprotkb:Trip230(gene name synonym)|uniprotkb:TRIP11(gene name)|psi-mi:TRIP11(display_short)|uniprotkb:CEV14(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_004230.2|go:"GO:0005801"(cis-Golgi network)|go:"GO:0005856"(cytoskeleton)|go:"GO:0006366"(transcription by RNA polymerase II)|go:"GO:0006486"(protein glycosylation)|ensembl:ENSG00000100815(gene)|ensembl:ENST00000267622(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0002079"(inner acrosomal membrane)|go:"GO:0002081"(outer acrosomal membrane)|go:"GO:0003281"(ventricular septum development)|go:"GO:0003413"(chondrocyte differentiation involved in endochondral bone morphogenesis)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005793"(endoplasmic reticulum-Golgi intermediate compartment)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0007030"(Golgi organization)|go:"GO:0016607"(nuclear speck)|go:"GO:0030133"(transport vesicle)|go:"GO:0031267"(small GTPase binding)|go:"GO:0033116"(endoplasmic reticulum-Golgi intermediate compartment membrane)|go:"GO:0051216"(cartilage development)|go:"GO:0060122"(inner ear receptor cell stereocilium organization)|go:"GO:0090161"(Golgi ribbon formation)|go:"GO:0099041"(vesicle tethering to Golgi)|interpro:IPR000237(GRIP)|mint:Q15643|reactome:R-HSA-5620924|reactome:R-HSA-6811438|reactome:R-HSA-9703465|ensembl:ENSP00000267622|dip:DIP-40357N intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:M/XOdT1ZPDaQqMuBXsAB5p6N9LY9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9UJY5-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27068055|ensembl:ENSP00000341344 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q9ujy5-1(display_long)|uniprotkb:Gamma-adaptin-related protein 1(gene name synonym)|uniprotkb:Golgi-localized, gamma ear-containing, ARF-binding protein 1(gene name synonym)|uniprotkb:GGA1(gene name)|psi-mi:GGA1(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000100083(gene)|ensembl:ENST00000343632(transcript)|intact:EBI-447141(isoform-parent) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:3n7Nia4JzMiDja0I7mUcyihFFBc9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:A8MWY0 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27012657|uniprotkb:A4D1C9|intact:EBI-28970868|ensembl:ENSP00000413445|uniprotkb:B4DJV3|uniprotkb:Q17RI6|uniprotkb:Q96DP2 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:elap2_human(display_long)|uniprotkb:ELAPOR2(gene name)|psi-mi:ELAPOR2(display_short)|uniprotkb:EIG121L(gene name synonym)|uniprotkb:Estrogen-induced gene 121-like protein(gene name synonym)|uniprotkb:KIAA1324L(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENST00000416314|ensembl:ENSP00000402390|ensembl:ENSP00000413445|ensembl:ENSG00000164659(gene)|ensembl:ENST00000450689(transcript)|go:"GO:0005886"(plasma membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030513"(positive regulation of BMP signaling pathway)|go:"GO:0045684"(positive regulation of epidermis development)|go:"GO:0051961"(negative regulation of nervous system development)|go:"GO:0070700"(BMP receptor binding)|interpro:IPR009011(Mannose-6-phosphate receptor, binding)|interpro:IPR009030(Growth factor, receptor)|interpro:IPR039181|interpro:IPR044865|refseq:NP_001136221.1|refseq:NP_001278920.1|refseq:NP_689961.3|refseq:XP_016867333.1 intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:ax+BSxl6nGs4h2vDicCfEJkbnEQ9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q96K17-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27068050 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q96k17-1(display_long)|uniprotkb:BTF3L4(gene name)|psi-mi:BTF3L4(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:Q96K17-1(isoform-parent) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:UL7VE0uKz9mYvpFq8E2FLKrBmOA9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q63HQ0 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-2692137|uniprotkb:B2RCV7|uniprotkb:Q96GG6|uniprotkb:Q9H0V0|uniprotkb:Q9P1L4|ensembl:ENSP00000274000 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:ap1ar_human(display_long)|uniprotkb:C4orf16(gene name synonym)|uniprotkb:2c18(gene name synonym)|uniprotkb:Gamma-1-adaptin brefeldin A resistance protein(gene name synonym)|uniprotkb:AP1AR(gene name)|psi-mi:AP1AR(display_short)|uniprotkb:Gamma-A1-adaptin and kinesin interactor(gene name synonym)|uniprotkb:PRO0971(orf name)|uniprotkb:Adaptor-related protein complex 1-associated regulatory protein(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001121898.1|refseq:NP_061039.3|ensembl:ENSG00000138660(gene)|ensembl:ENST00000274000(transcript)|go:"GO:0001920"(negative regulation of receptor recycling)|go:"GO:0005768"(endosome)|go:"GO:0005769"(early endosome)|go:"GO:0005770"(late endosome)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0015031"(protein transport)|go:"GO:0019894"(kinesin binding)|go:"GO:0030133"(transport vesicle)|go:"GO:0034315"(regulation of Arp2/3 complex-mediated actin nucleation)|go:"GO:0034613"(cellular protein localization)|go:"GO:0035650"(AP-1 adaptor complex binding)|go:"GO:0048203"(vesicle targeting, trans-Golgi to endosome)|go:"GO:1900025"(negative regulation of substrate adhesion-dependent cell spreading)|go:"GO:2000146"(negative regulation of cell motility)|interpro:IPR031483 intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:4BR/7pmchSp26KyhFG6FIBUEqKo9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9UKG1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-741243|intact:EBI-28979536|ensembl:ENSP00000288266|ensembl:ENSP00000498115|uniprotkb:Q9P2B9 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:dp13a_human(display_long)|uniprotkb:Adapter protein containing PH domain, PTB domain and leucine zipper motif 1(gene name synonym)|uniprotkb:APPL1(gene name)|psi-mi:APPL1(display_short)|uniprotkb:APPL(gene name synonym)|uniprotkb:DIP13A(gene name synonym)|uniprotkb:KIAA1428(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000157500(gene)|ensembl:ENST00000288266(transcript)|ensembl:ENST00000650354(transcript)|go:"GO:0001726"(ruffle)|go:"GO:0001786"(phosphatidylserine binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005768"(endosome)|go:"GO:0005769"(early endosome)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006606"(protein import into nucleus)|go:"GO:0007049"(cell cycle)|go:"GO:0007165"(signal transduction)|go:"GO:0007179"(transforming growth factor beta receptor signaling pathway)|go:"GO:0008286"(insulin receptor signaling pathway)|go:"GO:0010008"(endosome membrane)|go:"GO:0010762"(regulation of fibroblast migration)|go:"GO:0012506"(vesicle membrane)|go:"GO:0016020"(membrane)|go:"GO:0023052"(signaling)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0031901"(early endosome membrane)|go:"GO:0032009"(early phagosome)|go:"GO:0033211"(adiponectin-activated signaling pathway)|go:"GO:0034143"(regulation of toll-like receptor 4 signaling pathway)|go:"GO:0035091"(phosphatidylinositol binding)|go:"GO:0035729"(cellular response to hepatocyte growth factor stimulus)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043422"(protein kinase B binding)|go:"GO:0044354"(macropinosome)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045088"(regulation of innate immune response)|go:"GO:0046324"(regulation of glucose import)|go:"GO:0046326"(positive regulation of glucose import)|go:"GO:0048023"(positive regulation of melanin biosynthetic process)|go:"GO:0048487"(beta-tubulin binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0097708"(intracellular vesicle)|go:"GO:1900017"(positive regulation of cytokine production involved in inflammatory response)|go:"GO:1903076"(regulation of protein localization to plasma membrane)|go:"GO:1905303"(positive regulation of macropinocytosis)|go:"GO:1905450"(negative regulation of Fc-gamma receptor signaling pathway involved in phagocytosis)|interpro:IPR027267|interpro:IPR037929|mint:Q9UKG1|rcsb pdb:2EJ8|rcsb pdb:2ELA|rcsb pdb:2ELB|rcsb pdb:2Q12|rcsb pdb:2Q13|rcsb pdb:2Z0N|rcsb pdb:2Z0O|rcsb pdb:5C5B|reactome:R-HSA-418889|go:"GO:2000045"(regulation of G1/S transition of mitotic cell cycle)|interpro:IPR001849(Pleckstrin-like)|interpro:IPR006020(Phosphotyrosine interaction region)|interpro:IPR011993(Pleckstrin homology-type)|refseq:NP_036228.1|ensembl:ENSP00000288266|ensembl:ENSP00000498115|dip:DIP-29322N intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:v94zzPKDww+kZxRttd3FHIXIx/w9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9BPW8 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-307125|uniprotkb:O43800|uniprotkb:B2RAY3|ensembl:ENSP00000216121 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:nips1_human(display_long)|uniprotkb:NIPSNAP1(gene name)|psi-mi:NIPSNAP1(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001189431.1|refseq:NP_003625.2|ensembl:ENSG00000184117(gene)|ensembl:ENST00000216121(transcript)|go:"GO:0005739"(mitochondrion)|go:"GO:0019233"(sensory perception of pain)|go:"GO:0042165"(neurotransmitter binding)|go:"GO:0097060"(synaptic membrane)|interpro:IPR011008(Dimeric alpha-beta barrel)|interpro:IPR012577(NIPSNAP)|mint:Q9BPW8 intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:mOosuRNhEeYvVB5cUbkMzTJ7X7s9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q7Z7G8-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27068037|ensembl:ENSP00000351346 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q7z7g8-1(display_long)|uniprotkb:Cohen syndrome protein 1(gene name synonym)|uniprotkb:VPS13B(gene name)|psi-mi:VPS13B(display_short)|uniprotkb:CHS1(gene name synonym)|uniprotkb:COH1(gene name synonym)|uniprotkb:KIAA0532(gene name synonym)|uniprotkb:1A(isoform synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000132549(gene)|ensembl:ENST00000358544(transcript)|intact:EBI-2558401(isoform-parent) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:Ezg37sKtkg/CURAQAzplQgw5IiE9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O94979-8 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27068027 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:o94979-8(display_long)|uniprotkb:ABP125(gene name synonym)|uniprotkb:ABP130(gene name synonym)|uniprotkb:SEC31-like protein 1(gene name synonym)|uniprotkb:SEC31-related protein A(gene name synonym)|uniprotkb:Web1-like protein(gene name synonym)|uniprotkb:HSPC275(orf name)|uniprotkb:HSPC334(orf name)|uniprotkb:SEC31A(gene name)|psi-mi:SEC31A(display_short)|uniprotkb:KIAA0905(gene name synonym)|uniprotkb:SEC31L1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-1767898(isoform-parent) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:Cafg9SX73ogPIZhSHjO+LRry6vk9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O00291 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-473886|uniprotkb:O00328|uniprotkb:Q8TDL4|uniprotkb:Q2TB58|uniprotkb:V5LU97|uniprotkb:B4E3I7|uniprotkb:E7ES17|ensembl:ENSP00000336747 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:hip1_human(display_long)|uniprotkb:HIP1(gene name)|psi-mi:HIP1(display_short)|uniprotkb:Huntingtin-interacting protein I(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 go:"GO:0051015"(actin filament binding)|go:"GO:0051897"(positive regulation of protein kinase B signaling)|go:"GO:0072583"(clathrin-dependent endocytosis)|go:"GO:0080025"(phosphatidylinositol-3,5-bisphosphate binding)|go:"GO:0097190"(apoptotic signaling pathway)|go:"GO:0098793"(presynapse)|go:"GO:0098794"(postsynapse)|go:"GO:0098888"(extrinsic component of presynaptic membrane)|go:"GO:0098890"(extrinsic component of postsynaptic membrane)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099637"(neurotransmitter receptor transport)|go:"GO:2000588"(positive regulation of platelet-derived growth factor receptor-beta signaling pathway)|interpro:IPR002558(I/LWEQ)|interpro:IPR008942(ENTH/VHS)|interpro:IPR011417(ANTH)|interpro:IPR013809(Epsin-like, N-terminal)|interpro:IPR030224|interpro:IPR030554|interpro:IPR032422|interpro:IPR035964|mint:O00291|rcsb pdb:2NO2|rcsb pdb:2QA7|rcsb pdb:3I00|reactome:R-HSA-8856828|refseq:NP_005329.3|refseq:NP_001230127.1|refseq:XP_005250361.1|refseq:XP_011514418.1|ensembl:ENSG00000127946(gene)|ensembl:ENST00000336926(transcript)|go:"GO:0005154"(epidermal growth factor receptor binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0006897"(endocytosis)|go:"GO:0006915"(apoptotic process)|go:"GO:0006919"(activation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0007015"(actin filament organization)|go:"GO:0016020"(membrane)|go:"GO:0030100"(regulation of endocytosis)|go:"GO:0030136"(clathrin-coated vesicle)|go:"GO:0030154"(cell differentiation)|go:"GO:0030276"(clathrin binding)|go:"GO:0030665"(clathrin-coated vesicle membrane)|go:"GO:0031234"(extrinsic component of cytoplasmic side of plasma membrane)|go:"GO:0032051"(clathrin light chain binding)|go:"GO:0032266"(phosphatidylinositol-3-phosphate binding)|go:"GO:0035091"(phosphatidylinositol binding)|go:"GO:0035254"(glutamate receptor binding)|go:"GO:0035612"(AP-2 adaptor complex binding)|go:"GO:0035615"(clathrin adaptor activity)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0043325"(phosphatidylinositol-3,4-bisphosphate binding)|go:"GO:0045742"(positive regulation of epidermal growth factor receptor signaling pathway)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0048260"(positive regulation of receptor-mediated endocytosis)|go:"GO:0048268"(clathrin coat assembly)|go:"GO:0050821"(protein stabilization)|dip:DIP-17041N intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:tv7gJyUeUPo98+42G8L980EnE/c9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q8WVM8 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-722569|uniprotkb:O60754|uniprotkb:O94990|uniprotkb:Q7Z529|uniprotkb:Q9BZI3|uniprotkb:Q9UNL3|uniprotkb:Q9Y6A8|uniprotkb:A8K2Z5|uniprotkb:B7Z4U7|uniprotkb:B7Z594|ensembl:ENSP00000390783 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:scfd1_human(display_long)|uniprotkb:Syntaxin-binding protein 1-like 2(gene name synonym)|uniprotkb:SLY1 homolog(gene name synonym)|uniprotkb:FKSG23(orf name)|uniprotkb:SCFD1(gene name)|psi-mi:SCFD1(display_short)|uniprotkb:KIAA0917(gene name synonym)|uniprotkb:STXBP1L2(gene name synonym)|uniprotkb:C14orf163(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001269961.1|refseq:NP_057190.2|refseq:NP_001244305.1|refseq:NP_878255.1|mint:Q8WVM8|reactome:R-HSA-204005|reactome:R-HSA-8980692|ensembl:ENSG00000092108(gene)|ensembl:ENST00000458591(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0000902"(cell morphogenesis)|go:"GO:0001666"(response to hypoxia)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005798"(Golgi-associated vesicle)|go:"GO:0005801"(cis-Golgi network)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0006888"(endoplasmic reticulum to Golgi vesicle-mediated transport)|go:"GO:0006890"(retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum)|go:"GO:0006892"(post-Golgi vesicle-mediated transport)|go:"GO:0009636"(response to toxic substance)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0019905"(syntaxin binding)|go:"GO:0032580"(Golgi cisterna membrane)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0047485"(protein N-terminus binding)|go:"GO:0051223"(regulation of protein transport)|go:"GO:0060628"(regulation of ER to Golgi vesicle-mediated transport)|go:"GO:1901998"(toxin transport)|go:"GO:1902902"(negative regulation of autophagosome assembly)|interpro:IPR001619(Sec1-like protein)|interpro:IPR027482|interpro:IPR036045|interpro:IPR043127|interpro:IPR043154 intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:7cD2Z6zhuKLCd3ERB+pVNRdVexY9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P98194-7 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27068019|ensembl:ENSP00000421326 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:p98194-7(display_long)|uniprotkb:"ATP-dependent Ca(2+) pump PMR1"(gene name synonym)|uniprotkb:"Ca(2+)/Mn(2+)-ATPase 2C1"(gene name synonym)|uniprotkb:"Secretory pathway Ca(2+)-transporting ATPase type 1"(gene name synonym)|uniprotkb:HUSSY-28(orf name)|uniprotkb:ATP2C1(gene name)|psi-mi:ATP2C1(display_short)|uniprotkb:KIAA1347(gene name synonym)|uniprotkb:PMR1L(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000017260(gene)|ensembl:ENST00000507488(transcript)|intact:EBI-2939877(isoform-parent) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:1zvX0geQhBLPJ6bqgj7k9VYSUpg9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P15586 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-1752200|uniprotkb:Q53F05|uniprotkb:B4DYH8|ensembl:ENSP00000258145 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:gns_human(display_long)|uniprotkb:GNS(gene name)|psi-mi:GNS(display_short)|uniprotkb:Glucosamine-6-sulfatase(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_002067.1|ensembl:ENSG00000135677(gene)|ensembl:ENST00000258145(transcript)|go:"GO:0005539"(glycosaminoglycan binding)|go:"GO:0005576"(extracellular region)|go:"GO:0006027"(glycosaminoglycan catabolic process)|go:"GO:0008449"(N-acetylglucosamine-6-sulfatase activity)|go:"GO:0008484"(sulfuric ester hydrolase activity)|go:"GO:0035578"(azurophil granule lumen)|go:"GO:0042340"(keratan sulfate catabolic process)|go:"GO:0043202"(lysosomal lumen)|go:"GO:0046872"(metal ion binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:1904813"(ficolin-1-rich granule lumen)|interpro:IPR000917(Sulphatase)|interpro:IPR012251(N-acetylglucosamine-6-sulphatase)|interpro:IPR015981(N-acetylglucosamine-6-sulphatase, eukaryotic)|interpro:IPR017850(Alkaline-phosphatase-like, core domain)|interpro:IPR024607|reactome:R-HSA-2022857|reactome:R-HSA-2206305|reactome:R-HSA-432720|reactome:R-HSA-6798695 intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:s2TD4H1n5nIpta9EEtDbKQ90TxI9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O60784-2 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-12117154|ensembl:ENSP00000413697 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:o60784-2(display_long)|uniprotkb:TOM1(gene name)|psi-mi:TOM1(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000100284(gene)|ensembl:ENST00000411850(transcript)|intact:EBI-74634(isoform-parent)|uniprotkb:O60784-2(isoform-parent) intact:EBI-27067758(see-also) - isoform-comment:No experimental confirmation available. figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:pSyf40hg3apXj2tU4sB2WBfZSq09606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P40818 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-1050865|uniprotkb:Q2TB31|uniprotkb:Q7Z3U2|uniprotkb:Q86VA0|uniprotkb:Q8IWI7|ensembl:ENSP00000302239|ensembl:ENSP00000379721|uniprotkb:B4DKA8 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:ubp8_human(display_long)|uniprotkb:Ubiquitin-specific-processing protease 8(gene name synonym)|uniprotkb:Deubiquitinating enzyme 8(gene name synonym)|uniprotkb:USP8(gene name)|psi-mi:USP8(display_short)|uniprotkb:KIAA0055(gene name synonym)|uniprotkb:UBPY(gene name synonym)|uniprotkb:Ubiquitin isopeptidase Y(gene name synonym)|uniprotkb:Ubiquitin thioesterase 8(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001122082.1|refseq:NP_005145.3|refseq:NP_001269978.1|refseq:XP_011520495.1|ensembl:ENSG00000138592(gene)|ensembl:ENST00000307179(transcript)|ensembl:ENST00000396444(transcript)|go:"GO:0000281"(mitotic cytokinesis)|go:"GO:0004197"(cysteine-type endopeptidase activity)|go:"GO:0004843"(thiol-dependent deubiquitinase)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005769"(early endosome)|go:"GO:0005829"(cytosol)|go:"GO:0006511"(ubiquitin-dependent protein catabolic process)|go:"GO:0007032"(endosome organization)|go:"GO:0007265"(Ras protein signal transduction)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016579"(protein deubiquitination)|go:"GO:0017124"(SH3 domain binding)|go:"GO:0019897"(extrinsic component of plasma membrane)|go:"GO:0030496"(midbody)|go:"GO:0031313"(extrinsic component of endosome membrane)|go:"GO:0031647"(regulation of protein stability)|go:"GO:0032880"(regulation of protein localization)|go:"GO:0043197"(dendritic spine)|go:"GO:0045296"(cadherin binding)|go:"GO:0070536"(protein K63-linked deubiquitination)|go:"GO:0071108"(protein K48-linked deubiquitination)|go:"GO:0071549"(cellular response to dexamethasone stimulus)|go:"GO:0090263"(positive regulation of canonical Wnt signaling pathway)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099576"(regulation of protein catabolic process at postsynapse, modulating synaptic transmission)|go:"GO:1990090"(cellular response to nerve growth factor stimulus)|interpro:IPR001394(Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2)|interpro:IPR001763(Rhodanese-like)|interpro:IPR015063(Region of unknown function DUF1873)|interpro:IPR018200|interpro:IPR028889|interpro:IPR036873|interpro:IPR038765|mint:P40818|rcsb pdb:1WHB|rcsb pdb:2A9U|rcsb pdb:2GFO|rcsb pdb:2GWF|rcsb pdb:3N3K|rcsb pdb:6F09|reactome:R-HSA-1358803|reactome:R-HSA-4641263|reactome:R-HSA-5689880|reactome:R-HSA-6807004|refseq:XP_006720824.1|dip:DIP-40365N intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:hpBBzyA4lc9is80ZFJBr1fyEyOM9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9NZ52 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-447404|uniprotkb:Q15017|uniprotkb:Q6IS16|uniprotkb:Q9UJY3|uniprotkb:B7Z7E2|uniprotkb:B7Z7M9|uniprotkb:J3KRN0|intact:EBI-28988067|ensembl:ENSP00000438085|ensembl:ENSP00000496890 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:gga3_human(display_long)|uniprotkb:Golgi-localized, gamma ear-containing, ARF-binding protein 3(gene name synonym)|uniprotkb:GGA3(gene name)|psi-mi:GGA3(display_short)|uniprotkb:KIAA0154(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001278570.1|refseq:NP_001278571.1|refseq:NP_001166174.1|refseq:NP_054720.1|refseq:NP_619525.1|ensembl:ENST00000538886|ensembl:ENSP00000446421|ensembl:ENST00000578348|ensembl:ENSP00000463288|ensembl:ENST00000582717|ensembl:ENSP00000462081|ensembl:ENSP00000496890|ensembl:ENSP00000438085|refseq:NP_001166175.1|dip:DIP-31600N|ensembl:ENSG00000125447(gene)|ensembl:ENST00000537686(transcript)|ensembl:ENST00000649398(transcript)|go:"GO:0005764"(lysosome)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005802"(trans-Golgi network)|go:"GO:0006622"(protein targeting to lysosome)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0010008"(endosome membrane)|go:"GO:0031267"(small GTPase binding)|go:"GO:0031647"(regulation of protein stability)|go:"GO:0031648"(protein destabilization)|go:"GO:0031901"(early endosome membrane)|go:"GO:0032456"(endocytic recycling)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034394"(protein localization to cell surface)|go:"GO:0035091"(phosphatidylinositol binding)|go:"GO:0043001"(Golgi to plasma membrane protein transport)|go:"GO:0043130"(ubiquitin binding)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045732"(positive regulation of protein catabolic process)|go:"GO:0055038"(recycling endosome membrane)|go:"GO:1902430"(negative regulation of amyloid-beta formation)|interpro:IPR002014(VHS)|interpro:IPR044111|mint:Q9NZ52|rcsb pdb:1JPL|rcsb pdb:1JUQ|rcsb pdb:1LF8|rcsb pdb:1P4U|rcsb pdb:1WR6|rcsb pdb:1YD8|reactome:R-HSA-8854214|reactome:R-HSA-8875656|reactome:R-HSA-977225|interpro:IPR004152(GAT)|interpro:IPR008152(Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain)|interpro:IPR008153(Clathrin adaptor, gamma-adaptin, appendage)|interpro:IPR008942(ENTH/VHS)|interpro:IPR013041(Clathrin/coatomer adaptor, adaptin-like, appendage, Ig-like subdomain)|interpro:IPR027422|interpro:IPR038425|interpro:IPR041198 intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:MuqZi22xY1lyDboND7/xRNCqJbc9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q15842 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-17440235|uniprotkb:O00657|ensembl:ENSP00000240662|ensembl:ENSP00000499300|ensembl:ENSP00000499462 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:kcnj8_human(display_long)|uniprotkb:KCNJ8(gene name)|psi-mi:KCNJ8(display_short)|uniprotkb:"Inward rectifier K(+) channel Kir6.1"(gene name synonym)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 8(gene name synonym)|uniprotkb:uKATP-1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_004973.1|refseq:XP_005253415.1|refseq:XP_016874772.1|refseq:XP_016874773.1|ensembl:ENSG00000121361(gene)|ensembl:ENST00000240662(transcript)|ensembl:ENST00000665145(transcript)|ensembl:ENST00000667884(transcript)|go:"GO:0001822"(kidney development)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005739"(mitochondrion)|go:"GO:0005886"(plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0007507"(heart development)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0008282"(inward rectifying potassium channel)|go:"GO:0015272"(ATP-activated inward rectifier potassium channel activity)|go:"GO:0017098"(sulfonylurea receptor binding)|go:"GO:0019829"(ATPase-coupled cation transmembrane transporter activity)|go:"GO:0030016"(myofibril)|go:"GO:0031004"(potassium ion-transporting ATPase complex)|go:"GO:0032496"(response to lipopolysaccharide)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042383"(sarcolemma)|go:"GO:0043330"(response to exogenous dsRNA)|go:"GO:0051607"(defense response to virus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0098662"(inorganic cation transmembrane transport)|go:"GO:0098915"(membrane repolarization during ventricular cardiac muscle cell action potential)|go:"GO:0150104"(transport across blood-brain barrier)|go:"GO:1902282"(voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003278(Potassium channel, inwardly rectifying, Kir6.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|reactome:R-HSA-1296025 intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:1Df988YS5pOg9ILQNqhOfsmM4ec9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P11717 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-1048580|uniprotkb:Q7Z7G9|uniprotkb:Q96PT5|ensembl:ENSP00000349437 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:mpri_human(display_long)|uniprotkb:Insulin-like growth factor 2 receptor(gene name synonym)|uniprotkb:Insulin-like growth factor II receptor(gene name synonym)|uniprotkb:M6P/IGF2 receptor(gene name synonym)|uniprotkb:300 kDa mannose 6-phosphate receptor(gene name synonym)|uniprotkb:IGF2R(gene name)|psi-mi:IGF2R(display_short)|uniprotkb:MPRI(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_000867.2|go:"GO:0001965"(G-protein alpha-subunit binding)|go:"GO:0001972"(retinoic acid binding)|go:"GO:0005010"(insulin-like growth factor-activated receptor activity)|go:"GO:0005520"(insulin-like growth factor binding)|go:"GO:0005537"(mannose binding)|go:"GO:0005641"(nuclear envelope lumen)|go:"GO:0005768"(endosome)|go:"GO:0005769"(early endosome)|go:"GO:0005770"(late endosome)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005802"(trans-Golgi network)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006898"(receptor-mediated endocytosis)|ensembl:ENSG00000197081(gene)|go:"GO:0007041"(lysosomal transport)|go:"GO:0007165"(signal transduction)|ensembl:ENST00000356956(transcript)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0001889"(liver development)|go:"GO:0007283"(spermatogenesis)|go:"GO:0009791"(post-embryonic development)|go:"GO:0009986"(cell surface)|go:"GO:0010008"(endosome membrane)|go:"GO:0016020"(membrane)|go:"GO:0019899"(enzyme binding)|go:"GO:0030118"(clathrin coat)|go:"GO:0030133"(transport vesicle)|go:"GO:0030139"(endocytic vesicle)|go:"GO:0030140"(trans-Golgi network transport vesicle)|go:"GO:0030667"(secretory granule membrane)|go:"GO:0030669"(clathrin-coated endocytic vesicle membrane)|go:"GO:0031100"(animal organ regeneration)|go:"GO:0031995"(insulin-like growth factor II binding)|go:"GO:0032526"(response to retinoic acid)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042802"(identical protein binding)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0044794"(positive regulation by host of viral process)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051219"(phosphoprotein binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:1904772"(response to tetrachloromethane)|go:"GO:1905394"(retromer complex binding)|interpro:IPR000479(Cation-independent mannose-6-phosphate receptor)|interpro:IPR000562(Type II fibronectin, collagen-binding)|interpro:IPR009011(Mannose-6-phosphate receptor, binding)|interpro:IPR013806(Kringle-like fold)|interpro:IPR036943|interpro:IPR044865|mint:P11717|rcsb pdb:1E6F|rcsb pdb:1GP0|rcsb pdb:1GP3|rcsb pdb:1GQB|rcsb pdb:1JPL|rcsb pdb:1JWG|rcsb pdb:1LF8|rcsb pdb:2CNJ|rcsb pdb:2L29|rcsb pdb:2L2A|rcsb pdb:2M68|rcsb pdb:2M6T|rcsb pdb:2V5N|rcsb pdb:2V5O|rcsb pdb:2V5P|rcsb pdb:5IEI|rcsb pdb:6N5X|rcsb pdb:6N5Y|rcsb pdb:6P8I|rcsb pdb:6V02|rcsb pdb:6Z30|rcsb pdb:6Z31|rcsb pdb:6Z32|reactome:R-HSA-432722|reactome:R-HSA-6798695|reactome:R-HSA-6811440|reactome:R-HSA-8856825|reactome:R-HSA-8856828|dip:DIP-6027N intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:7lkG6WR8MQ/SONiTV/8g1ZTtKTU9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q13501-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-21995457|ensembl:ENSP00000374455 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q13501-1(display_long)|uniprotkb:SQSTM1(gene name)|psi-mi:SQSTM1(display_short)|uniprotkb:ORCA(gene name synonym)|uniprotkb:OSIL(gene name synonym)|uniprotkb:EBI3-associated protein of 60 kDa(gene name synonym)|uniprotkb:Phosphotyrosine-independent ligand for the Lck SH2 domain of 62 kDa(gene name synonym)|uniprotkb:Ubiquitin-binding protein p62(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000161011(gene)|ensembl:ENST00000389805(transcript)|intact:EBI-307104(isoform-parent) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:paIcBLmyiv1+D9QMym5MY3yc8MI9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P20290-2 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-1054703|ensembl:ENSP00000338516 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:p20290-2(display_long)|uniprotkb:BTF3b(isoform synonym)|uniprotkb:BTF3(gene name)|psi-mi:BTF3(display_short)|uniprotkb:NACB(gene name synonym)|uniprotkb:RNA polymerase B transcription factor 3(gene name synonym)|uniprotkb:OK/SW-cl.8(orf name)|uniprotkb:Nascent polypeptide-associated complex subunit beta(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-1054687(btf3_human)|ensembl:ENSG00000145741(gene)|ensembl:ENST00000335895(transcript)|uniprotkb:P20290-2(isoform-parent) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:nViZ1CRkho2stQQ1ts0kUzwhOO09606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q6ZVM7 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-3452240|uniprotkb:Q96M88|uniprotkb:Q86V61|uniprotkb:Q8TDE7|uniprotkb:B7Z7F4|ensembl:ENSP00000368818|uniprotkb:B7Z2L7 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:tm1l2_human(display_long)|uniprotkb:TOM1L2(gene name)|psi-mi:TOM1L2(display_short)|uniprotkb:Target of Myb-like protein 2(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001028723.1|refseq:NP_001076437.1|refseq:NP_001275715.1|refseq:NP_001275716.1|refseq:NP_001275717.1|refseq:NP_001275718.1|ensembl:ENSG00000175662(gene)|ensembl:ENST00000379504(transcript)|go:"GO:0005768"(endosome)|go:"GO:0007165"(signal transduction)|go:"GO:0015031"(protein transport)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030276"(clathrin binding)|go:"GO:0035091"(phosphatidylinositol binding)|go:"GO:0043130"(ubiquitin binding)|go:"GO:0045839"(negative regulation of mitotic nuclear division)|go:"GO:0070062"(extracellular exosome)|interpro:IPR002014(VHS)|interpro:IPR004152(GAT)|interpro:IPR008942(ENTH/VHS)|interpro:IPR014645(Target of Myb protein 1)|interpro:IPR027429|interpro:IPR038425|dip:DIP-61860N intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:NZ3MLjhsMwb65v0h0qjwkpZjZJ09606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q969S3 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-2687480|ensembl:ENSP00000310042 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:zn622_human(display_long)|uniprotkb:ZPR9(gene name synonym)|uniprotkb:Zinc finger-like protein 9(gene name synonym)|uniprotkb:ZNF622(gene name)|psi-mi:ZNF622(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_219482.1|ensembl:ENSG00000173545(gene)|ensembl:ENST00000308683(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005730"(nucleolus)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0008270"(zinc ion binding)|go:"GO:0008631"(intrinsic apoptotic signaling pathway in response to oxidative stress)|go:"GO:0030687"(preribosome, large subunit precursor)|go:"GO:0033674"(positive regulation of kinase activity)|go:"GO:0042273"(ribosomal large subunit biogenesis)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043410"(positive regulation of MAPK cascade)|go:"GO:0046330"(positive regulation of JNK cascade)|interpro:IPR003604(Zinc finger, U1-type)|interpro:IPR013087(Zinc finger, C2H2-type/integrase, DNA-binding)|interpro:IPR022755|interpro:IPR036236|interpro:IPR040025|interpro:IPR041661|mint:Q969S3|rcsb pdb:6LQM|rcsb pdb:6LSR intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:WUzJA1E/Gz78ud7PgHYxKxUSvU49606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:E9PAV3 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-11035679|intact:EBI-28974260|ensembl:ENSP00000403817 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:nacam_human(display_long)|uniprotkb:NACA(gene name)|psi-mi:NACA(display_short)|uniprotkb:Alpha-NAC, muscle-specific form(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSP00000403817|ensembl:ENST00000550952|ensembl:ENSP00000448035|refseq:XP_011536691.1|ensembl:ENSG00000196531(gene)|ensembl:ENST00000454682(transcript)|go:"GO:0003677"(DNA binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005854"(nascent polypeptide-associated complex)|go:"GO:0006612"(protein targeting to membrane)|go:"GO:0051082"(unfolded protein binding)|interpro:IPR002715(Nascent polypeptide-associated complex NAC)|interpro:IPR016641(Nascent polypeptide-associated complex, alpha subunit)|interpro:IPR038187|interpro:IPR044034 intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:tDgXpWjnQ69ngTZSPzERd50DEk49606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q8IZA0 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-5240269|uniprotkb:B1AN13|uniprotkb:D3DPR8|uniprotkb:O95010|uniprotkb:Q6PJJ7|uniprotkb:Q7L1C9|uniprotkb:Q8N2B3|uniprotkb:Q8NDA0|uniprotkb:Q8WY39|uniprotkb:Q8WYZ5|uniprotkb:Q96IC3|uniprotkb:Q96JJ0|uniprotkb:Q9BUW6|uniprotkb:Q9H7V0|ensembl:ENSP00000318406 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:k319l_human(display_long)|uniprotkb:KIAA0319L(gene name)|psi-mi:KIAA0319L(display_short)|uniprotkb:KIAA1837(gene name synonym)|uniprotkb:PP791(orf name)|uniprotkb:AAVR(gene name synonym)|uniprotkb:Adeno-associated virus receptor(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:XP_011540481.1|refseq:NP_079150.3|refseq:XP_006710970.1|refseq:XP_006710972.1|refseq:XP_006710973.1|refseq:XP_016857867.1|ensembl:ENSG00000142687(gene)|ensembl:ENST00000325722(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0005730"(nucleolus)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0031410"(cytoplasmic vesicle)|interpro:IPR000601(PKD)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR013980(Seven cysteines)|interpro:IPR022409|interpro:IPR029865|interpro:IPR035986|rcsb pdb:2YRL|rcsb pdb:6IHB|rcsb pdb:6JCQ|rcsb pdb:6JCS|rcsb pdb:6NZ0|rcsb pdb:7KPN|refseq:XP_016857865.1 intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:TIMGWLizfeISNvV9s/796eq6FQI9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9P2D6-3 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27068012 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q9p2d6-3(display_long)|uniprotkb:FAM135A(gene name)|psi-mi:FAM135A(display_short)|uniprotkb:KIAA1411(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:Q9P2D6-3(isoform-parent) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:8RGNb2yIsqvzjBaW7um+N8Rv9cc9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9H009 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067993|ensembl:ENSP00000427802|uniprotkb:Q2VIR9 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:naca2_human(display_long)|uniprotkb:NACA2(gene name)|psi-mi:NACA2(display_short)|uniprotkb:NACAL(gene name synonym)|uniprotkb:Alpha-NAC-like(gene name synonym)|uniprotkb:Hom s 2.01(gene name synonym)|uniprotkb:Nascent polypeptide-associated complex subunit alpha-like(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000253506(gene)|ensembl:ENST00000521764(transcript)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005854"(nascent polypeptide-associated complex)|go:"GO:0006612"(protein targeting to membrane)|go:"GO:0051082"(unfolded protein binding)|interpro:IPR002715(Nascent polypeptide-associated complex NAC)|interpro:IPR016641(Nascent polypeptide-associated complex, alpha subunit)|interpro:IPR038187|interpro:IPR044034|refseq:NP_954984.1 intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:o+eBL1s5tSxgV99Kgh9WNE0XrAM9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9UNH7-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-16042719|ensembl:ENSP00000355217 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q9unh7-1(display_long)|uniprotkb:SNX6(gene name)|psi-mi:SNX6(display_short)|uniprotkb:TRAF4-associated factor 2(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000129515(gene)|ensembl:ENST00000362031(transcript)|intact:EBI-949294(isoform-parent) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:s8v8IGvyXPOBPCxGgtSk42phQdA9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P30419 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-5280164|uniprotkb:A8K7C1|uniprotkb:Q9UE09|ensembl:ENSP00000258960|ensembl:ENSP00000468424|ensembl:ENSP00000504192 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:nmt1_human(display_long)|uniprotkb:NMT1(gene name)|psi-mi:NMT1(display_short)|uniprotkb:NMT(gene name synonym)|uniprotkb:"Myristoyl-CoA:protein N-myristoyltransferase 1"(gene name synonym)|uniprotkb:Peptide N-myristoyltransferase 1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_066565.1|ensembl:ENSG00000136448(gene)|ensembl:ENST00000258960(transcript)|ensembl:ENST00000592782(transcript)|ensembl:ENST00000676828(transcript)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0004379"(glycylpeptide N-tetradecanoyltransferase activity)|go:"GO:0005739"(mitochondrion)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006499"(N-terminal protein myristoylation)|go:"GO:0018008"(N-terminal peptidyl-glycine N-myristoylation)|go:"GO:0019107"(myristoyltransferase activity)|go:"GO:0019898"(extrinsic component of membrane)|go:"GO:0022400"(regulation of rhodopsin mediated signaling pathway)|go:"GO:0042180"(cellular ketone metabolic process)|go:"GO:1900740"(positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway)|interpro:IPR000903("Myristoyl-CoA:protein N-myristoyltransferase")|interpro:IPR016181(Acyl-CoA N-acyltransferase)|interpro:IPR022676|interpro:IPR022677|interpro:IPR022678|rcsb pdb:1RXT|rcsb pdb:3IU1|rcsb pdb:3IU2|rcsb pdb:3IWE|rcsb pdb:3JTK|rcsb pdb:4C2Y|rcsb pdb:4C2Z|rcsb pdb:5MU6|rcsb pdb:5NPQ|rcsb pdb:5O6H|rcsb pdb:5O6J|rcsb pdb:5O9S|rcsb pdb:5O9T|rcsb pdb:5O9U|rcsb pdb:5O9V|rcsb pdb:5UUT|rcsb pdb:6EHJ|rcsb pdb:6F56|rcsb pdb:6FZ2|rcsb pdb:6FZ3|rcsb pdb:6FZ5|rcsb pdb:6PAV|rcsb pdb:6QRM|rcsb pdb:6SJZ|rcsb pdb:6SK2|rcsb pdb:6SK3|rcsb pdb:6SK8|rcsb pdb:6SKJ|reactome:R-HSA-162599|reactome:R-HSA-2514859|reactome:R-HSA-75108|go:"GO:0005737"(cytoplasm) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:eVkADRJp/cg4xIAw0ymeUZ+Vwyk9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9UHW9 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-2823282|uniprotkb:Q2VI00|uniprotkb:Q7Z2E7|uniprotkb:Q7Z4G5|uniprotkb:Q9UFR2|uniprotkb:Q8TDD4|uniprotkb:Q9Y665|uniprotkb:Q9Y642|uniprotkb:A0AV76|ensembl:ENSP00000346112|ensembl:ENSP00000453473|ensembl:ENSP00000454168 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:s12a6_human(display_long)|uniprotkb:SLC12A6(gene name)|psi-mi:SLC12A6(display_short)|uniprotkb:KCC3(gene name synonym)|uniprotkb:Electroneutral potassium-chloride cotransporter 3(gene name synonym)|uniprotkb:K-Cl cotransporter 3(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001035959.1|refseq:NP_001035960.1|refseq:NP_001035961.1|refseq:NP_001035962.1|refseq:NP_005126.1|refseq:NP_598408.1|rcsb pdb:7D90|rcsb pdb:7NGB|reactome:R-HSA-426117|reactome:R-HSA-5619039|ensembl:ENSG00000140199(gene)|ensembl:ENST00000354181(transcript)|ensembl:ENST00000558667(transcript)|ensembl:ENST00000560611(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006811"(ion transport)|go:"GO:0006884"(cell volume homeostasis)|go:"GO:0007268"(chemical synaptic transmission)|go:"GO:0008519"(ammonium transmembrane transporter activity)|go:"GO:0015079"(potassium ion transmembrane transporter activity)|go:"GO:0015379"("potassium:chloride symporter activity")|go:"GO:0016021"(integral component of membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0045202"(synapse)|go:"GO:0055064"(chloride ion homeostasis)|go:"GO:0055075"(potassium ion homeostasis)|go:"GO:0071476"(cellular hypotonic response)|go:"GO:0071477"(cellular hypotonic salinity response)|go:"GO:0140157"(ammonium import across plasma membrane)|go:"GO:1902476"(chloride transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR000076(K-Cl co-transporter)|interpro:IPR004841(Amino acid permease-associated region)|interpro:IPR004842(Na-K-Cl cotransporter superfamily)|interpro:IPR018491|interpro:IPR030364|rcsb pdb:6M1Y|rcsb pdb:6M22|rcsb pdb:6Y5R|rcsb pdb:6Y5V|rcsb pdb:7AIN|rcsb pdb:7AIO intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:ZNS+vbjlSeW9IjjaZoqhq/Z8IzA9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O95486-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067987|ensembl:ENSP00000381823 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:o95486-1(display_long)|uniprotkb:SEC24-related protein A(gene name synonym)|uniprotkb:SEC24A(gene name)|psi-mi:SEC24A(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000113615(gene)|ensembl:ENST00000398844(transcript)|intact:EBI-749911(isoform-parent) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:aaPntYTkPDon1zULatrlQ3JzDAE9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O75886 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-373258|uniprotkb:Q7LDQ0|uniprotkb:Q9UF58|uniprotkb:A8K8A0|uniprotkb:D3DPA1|ensembl:ENSP00000263904 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:stam2_human(display_long)|uniprotkb:STAM2(gene name)|psi-mi:STAM2(display_short)|uniprotkb:HBP(gene name synonym)|uniprotkb:Hrs-binding protein(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_005834.4|ensembl:ENSG00000115145(gene)|ensembl:ENST00000263904(transcript)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0007165"(signal transduction)|go:"GO:0015031"(protein transport)|go:"GO:0016236"(macroautophagy)|go:"GO:0030139"(endocytic vesicle)|go:"GO:0031901"(early endosome membrane)|go:"GO:0033565"(ESCRT-0 complex)|go:"GO:0035091"(phosphatidylinositol binding)|go:"GO:0036258"(multivesicular body assembly)|go:"GO:0043130"(ubiquitin binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|interpro:IPR001452(Src homology-3)|interpro:IPR002014(VHS)|interpro:IPR003903(Ubiquitin interacting motif)|interpro:IPR008942(ENTH/VHS)|interpro:IPR035675|interpro:IPR036028|mint:O75886|rcsb pdb:1X2Q|rcsb pdb:1X5B|rcsb pdb:2L0T|rcsb pdb:5CRV|rcsb pdb:5IXF|reactome:R-HSA-182971|reactome:R-HSA-5689880|reactome:R-HSA-6807004|reactome:R-HSA-8856825|reactome:R-HSA-8856828|reactome:R-HSA-8875360|reactome:R-HSA-9013420|reactome:R-HSA-917729 intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:e5brcAWS5So29SdnZV3cAm/dZAk9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q92783 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-752333|uniprotkb:Q8N6D9|uniprotkb:B0YJ99|intact:EBI-3447129|uniprotkb:D3DRU5|intact:EBI-28983444|ensembl:ENSP00000366746 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:stam1_human(display_long)|uniprotkb:STAM(gene name)|psi-mi:STAM(display_short)|uniprotkb:STAM1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_003464.1|ensembl:ENSP00000366746|dip:DIP-37761N|go:"GO:0043328"(protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway)|go:"GO:0044389"(ubiquitin-like protein ligase binding)|go:"GO:1903543"(positive regulation of exosomal secretion)|go:"GO:1903551"(regulation of extracellular exosome assembly)|interpro:IPR001452(Src homology-3)|interpro:IPR002014(VHS)|interpro:IPR003903(Ubiquitin interacting motif)|interpro:IPR008942(ENTH/VHS)|interpro:IPR035657|interpro:IPR036028|mint:Q92783|rcsb pdb:2L0A|rcsb pdb:3F1I|rcsb pdb:3LDZ|reactome:R-HSA-182971|reactome:R-HSA-5689901|reactome:R-HSA-6807004|reactome:R-HSA-8856825|reactome:R-HSA-8856828|reactome:R-HSA-8875360|reactome:R-HSA-9013420|reactome:R-HSA-917729|ensembl:ENSG00000136738(gene)|ensembl:ENST00000377524(transcript)|go:"GO:0005829"(cytosol)|go:"GO:0007165"(signal transduction)|go:"GO:0016236"(macroautophagy)|go:"GO:0031901"(early endosome membrane)|go:"GO:0033565"(ESCRT-0 complex)|go:"GO:0035091"(phosphatidylinositol binding)|go:"GO:0036258"(multivesicular body assembly)|go:"GO:0043130"(ubiquitin binding)|go:"GO:0043231"(intracellular membrane-bounded organelle) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:+XzmsTsMqOFTM5SM1fuVB+0UzeQ9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9C004-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067981 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q9c004-1(display_long)|uniprotkb:SPRY4(gene name)|psi-mi:SPRY4(display_short)|uniprotkb:Sprouty-4A(isoform synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:Q9C004-1(isoform-parent) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:NjkIqofg1Fl1PXj8FXVFz10JOUg9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O14964 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-740220|uniprotkb:Q9NR36|ensembl:ENSP00000331201|ensembl:ENSP00000504106 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:hgs_human(display_long)|uniprotkb:Protein pp110(gene name synonym)|uniprotkb:Hrs(gene name synonym)|uniprotkb:HGS(gene name)|psi-mi:HGS(display_short)|uniprotkb:HRS(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_004703.1|dip:DIP-29050N|ensembl:ENSG00000185359(gene)|ensembl:ENST00000329138(transcript)|ensembl:ENST00000676546(transcript)|go:"GO:0005764"(lysosome)|go:"GO:0005768"(endosome)|go:"GO:0005769"(early endosome)|go:"GO:0005829"(cytosol)|go:"GO:0006622"(protein targeting to lysosome)|go:"GO:0007165"(signal transduction)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0010324"(membrane invagination)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0010642"(negative regulation of platelet-derived growth factor receptor signaling pathway)|go:"GO:0016197"(endosomal transport)|go:"GO:0016236"(macroautophagy)|go:"GO:0016525"(negative regulation of angiogenesis)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030948"(negative regulation of vascular endothelial growth factor receptor signaling pathway)|go:"GO:0031901"(early endosome membrane)|go:"GO:0032585"(multivesicular body membrane)|go:"GO:0033565"(ESCRT-0 complex)|go:"GO:0035091"(phosphatidylinositol binding)|go:"GO:0036258"(multivesicular body assembly)|go:"GO:0042176"(regulation of protein catabolic process)|go:"GO:0043130"(ubiquitin binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0043405"(regulation of MAP kinase activity)|go:"GO:0044389"(ubiquitin-like protein ligase binding)|go:"GO:0046426"(negative regulation of receptor signaling pathway via JAK-STAT)|go:"GO:0046872"(metal ion binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072657"(protein localization to membrane)|go:"GO:0097013"(phagocytic vesicle lumen)|go:"GO:1903543"(positive regulation of exosomal secretion)|interpro:IPR000306(Zinc finger, FYVE-type)|interpro:IPR002014(VHS)|interpro:IPR003903(Ubiquitin interacting motif)|interpro:IPR008942(ENTH/VHS)|interpro:IPR011011(Zinc finger, FYVE/PHD-type)|interpro:IPR013083(Zinc finger, RING/FYVE/PHD-type)|interpro:IPR017073(Ubiquitin binding protein, Hrs/VPS27)|interpro:IPR017455(Zinc finger, FYVE-related)|interpro:IPR024641|mint:O14964|rcsb pdb:2D3G|rcsb pdb:3F1I|rcsb pdb:3OBQ|rcsb pdb:3ZYQ|rcsb pdb:4AVX|reactome:R-HSA-182971|reactome:R-HSA-432720|reactome:R-HSA-5689880|reactome:R-HSA-6807004|reactome:R-HSA-8856825|reactome:R-HSA-8856828|reactome:R-HSA-8875360|reactome:R-HSA-9013420|reactome:R-HSA-917729|reactome:R-HSA-9635644|reactome:R-HSA-9636383|reactome:R-HSA-9706019 intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:z/AnREuqEpyJ9/Zj6JFCJCJem1I9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P18621-3 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067976 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:p18621-3(display_long)|uniprotkb:RPL17(gene name)|psi-mi:RPL17(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:P18621-3(isoform-parent) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:YcgB8kIVB0/YygVEP+20XKWQS7I9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q15437 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-742673|uniprotkb:Q5W183|uniprotkb:Q9BS15|uniprotkb:Q9BSI2|uniprotkb:Q9H1D7|intact:EBI-1048165|uniprotkb:Q503A9|uniprotkb:D3DW33|ensembl:ENSP00000262544|ensembl:ENSP00000338844|ensembl:ENSP00000366685|ensembl:ENSP00000497473 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:sc23b_human(display_long)|uniprotkb:SEC23-related protein B(gene name synonym)|uniprotkb:SEC23B(gene name)|psi-mi:SEC23B(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001166216.1|refseq:NP_006354.2|refseq:NP_116780.1|refseq:NP_116781.1|ensembl:ENSG00000101310(gene)|ensembl:ENST00000262544(transcript)|ensembl:ENST00000336714(transcript)|ensembl:ENST00000377465(transcript)|ensembl:ENST00000650089(transcript)|go:"GO:0005096"(GTPase activator activity)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0008270"(zinc ion binding)|go:"GO:0012505"(endomembrane system)|go:"GO:0030127"(COPII vesicle coat)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0090110"(COPII-coated vesicle cargo loading)|go:"GO:0070971"(endoplasmic reticulum exit site)|interpro:IPR006895(Zinc finger, Sec23/Sec24-type)|interpro:IPR006896(Sec23/Sec24 trunk region)|interpro:IPR006900(Sec23/Sec24 helical region)|interpro:IPR007123(Gelsolin region)|interpro:IPR012990(Sec23/Sec24 beta-sandwich)|interpro:IPR029006|interpro:IPR036174|interpro:IPR036175|interpro:IPR036180|interpro:IPR036465|interpro:IPR037364|interpro:IPR037550|mint:Q15437|refseq:XP_016883082.1 intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:+3KZ/1jjziSgJRcr81Axquofkl49606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O95487-3 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067970|ensembl:ENSP00000428564 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:o95487-3(display_long)|uniprotkb:SEC24-related protein B(gene name synonym)|uniprotkb:SEC24B(gene name)|psi-mi:SEC24B(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000138802(gene)|ensembl:ENST00000504968(transcript)|intact:EBI-81101(isoform-parent) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:WoayNlBGxSwoE5zoEJNX61x+fI89606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q15436 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-81088|uniprotkb:B2R5P4|uniprotkb:Q8NE16|ensembl:ENSP00000306881|uniprotkb:B3KXI2 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:sc23a_human(display_long)|uniprotkb:SEC23A(gene name)|psi-mi:SEC23A(display_short)|uniprotkb:SEC23-related protein A(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_006355.2|ensembl:ENST00000307712(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0005096"(GTPase activator activity)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0006886"(intracellular protein transport)|go:"GO:0008270"(zinc ion binding)|go:"GO:0012507"(ER to Golgi transport vesicle membrane)|go:"GO:0019898"(extrinsic component of membrane)|go:"GO:0030127"(COPII vesicle coat)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0070971"(endoplasmic reticulum exit site)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0090110"(COPII-coated vesicle cargo loading)|ensembl:ENSG00000100934(gene)|interpro:IPR006895(Zinc finger, Sec23/Sec24-type)|interpro:IPR006896(Sec23/Sec24 trunk region)|interpro:IPR006900(Sec23/Sec24 helical region)|interpro:IPR007123(Gelsolin region)|interpro:IPR012990(Sec23/Sec24 beta-sandwich)|interpro:IPR029006|interpro:IPR036174|interpro:IPR036175|interpro:IPR036465|interpro:IPR037364|interpro:IPR037550|mint:Q15436|rcsb pdb:2NUP|rcsb pdb:2NUT|rcsb pdb:2YRC|rcsb pdb:2YRD|rcsb pdb:3EFO|rcsb pdb:3EG9|rcsb pdb:3EGD|rcsb pdb:3EGX|rcsb pdb:5KYN|rcsb pdb:5KYU|rcsb pdb:5KYW|rcsb pdb:5KYX|rcsb pdb:5KYY|rcsb pdb:5VNE|rcsb pdb:5VNF|rcsb pdb:5VNG|rcsb pdb:5VNH|rcsb pdb:5VNI|interpro:IPR036180|rcsb pdb:5VNJ|rcsb pdb:5VNK|rcsb pdb:5VNL|rcsb pdb:5VNM|rcsb pdb:5VNN|rcsb pdb:5VNO|reactome:R-HSA-204005|reactome:R-HSA-2132295|reactome:R-HSA-5694530|reactome:R-HSA-983170|reactome:R-HSA-1655829 intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:u1FCes02jPb3CGRj1aDkzpbSiuI9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P61011-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067965 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:p61011-1(display_long)|uniprotkb:SRP54(gene name)|psi-mi:SRP54(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:P61011-1(isoform-parent) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:8iRlU+NvhLEJNv7B90TAZyRqwiY9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q5T9L3-2 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-21508346|ensembl:ENSP00000346829 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q5t9l3-2(display_long)|uniprotkb:Integral membrane protein GPR177(gene name synonym)|uniprotkb:WLS(gene name)|psi-mi:WLS(display_short)|uniprotkb:C1orf139(gene name synonym)|uniprotkb:GPR177(gene name synonym)|uniprotkb:Protein evenness interrupted homolog(gene name synonym)|uniprotkb:Putative NF-kappa-B-activating protein 373(gene name synonym)|uniprotkb:UNQ85/PRO18667(orf name) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000116729(gene)|ensembl:ENST00000354777(transcript)|intact:EBI-2868748(isoform-parent) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:suSstC7Z1iuclhX7sh47FceaErg9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q8TAD4-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067956 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q8tad4-1(display_long)|uniprotkb:SLC30A5(gene name)|psi-mi:SLC30A5(display_short)|uniprotkb:ZNTL1(gene name synonym)|uniprotkb:ZNT5(gene name synonym)|uniprotkb:ZTL1(gene name synonym)|uniprotkb:UNQ863/PRO1879(orf name) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:Q8TAD4-1(isoform-parent) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:+AT6BJZGa+Y0SCjUwIlYqHb3sC89606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O95405-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-303710|ensembl:ENSP00000287727|ensembl:ENSP00000360647 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:o95405-1(display_long)|uniprotkb:ZFYVE9(gene name)|psi-mi:ZFYVE9(display_short)|uniprotkb:MADHIP(gene name synonym)|uniprotkb:SARA(gene name synonym)|uniprotkb:SMADIP(gene name synonym)|uniprotkb:Mothers against decapentaplegic homolog-interacting protein(gene name synonym)|uniprotkb:Novel serine protease(gene name synonym)|uniprotkb:Receptor activation anchor(gene name synonym)|uniprotkb:Smad anchor for receptor activation(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000157077(gene)|ensembl:ENST00000287727(transcript)|ensembl:ENST00000371591(transcript)|intact:EBI-296817(zfyv9_human) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:v3GnwyZAswVd59VtF27Ny2k7Ujc9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q7Z3T8 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-298055|uniprotkb:O15023|uniprotkb:Q7LAU7|uniprotkb:Q86T69|uniprotkb:Q8N5L3|uniprotkb:Q8NEK3|ensembl:ENSP00000337159|ensembl:ENSP00000423663|ensembl:ENSP00000426848|uniprotkb:Q5H9U2 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:zfy16_human(display_long)|uniprotkb:ZFYVE16(gene name)|psi-mi:ZFYVE16(display_short)|uniprotkb:Endofin(gene name synonym)|uniprotkb:Endosome-associated FYVE domain protein(gene name synonym)|uniprotkb:KIAA0305(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000039319(gene)|ensembl:ENST00000338008(transcript)|ensembl:ENST00000505560(transcript)|ensembl:ENST00000510158(transcript)|go:"GO:0005545"(1-phosphatidylinositol binding)|go:"GO:0005547"(phosphatidylinositol-3,4,5-trisphosphate binding)|go:"GO:0005769"(early endosome)|go:"GO:0005829"(cytosol)|go:"GO:0006622"(protein targeting to lysosome)|go:"GO:0007165"(signal transduction)|go:"GO:0016050"(vesicle organization)|go:"GO:0016197"(endosomal transport)|go:"GO:0030100"(regulation of endocytosis)|go:"GO:0031901"(early endosome membrane)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0046872"(metal ion binding)|interpro:IPR000306(Zinc finger, FYVE-type)|interpro:IPR011011(Zinc finger, FYVE/PHD-type)|interpro:IPR013083(Zinc finger, RING/FYVE/PHD-type)|interpro:IPR017165(Zinc finger, FYVE-type, SARA/endofin)|interpro:IPR017455(Zinc finger, FYVE-related)|interpro:IPR022557|interpro:IPR035438|rcsb pdb:3T7L|rcsb pdb:5MK0|reactome:R-HSA-201451|refseq:NP_001271166.1|refseq:XP_011542055.1|refseq:XP_005248689.1|refseq:XP_016865580.1|refseq:XP_016865581.1 intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:kutF+cRD+UmhN+j7tQV0vXtWau89606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P02786 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-355727|uniprotkb:Q59G55|uniprotkb:Q9UCN0|uniprotkb:Q9UCU5|uniprotkb:Q9UDF9|uniprotkb:Q9UK21|uniprotkb:Q1HE24|uniprotkb:D3DXB0|ensembl:ENSP00000353224|ensembl:ENSP00000376197 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:tfr1_human(display_long)|uniprotkb:TFRC(gene name)|psi-mi:TFRC(display_short)|uniprotkb:T9(gene name synonym)|uniprotkb:p90(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001121620.1|refseq:NP_003225.2|refseq:NP_001300894.1|refseq:NP_001300895.1|ensembl:ENSG00000072274(gene)|ensembl:ENST00000360110(transcript)|ensembl:ENST00000392396(transcript)|go:"GO:0001618"(virus receptor activity)|go:"GO:0001934"(positive regulation of protein phosphorylation)|go:"GO:0003723"(RNA binding)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0004998"(transferrin receptor activity)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005768"(endosome)|go:"GO:0005769"(early endosome)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005905"(clathrin-coated pit)|go:"GO:0006826"(iron ion transport)|go:"GO:0006879"(cellular iron ion homeostasis)|go:"GO:0008235"(metalloexopeptidase activity)|go:"GO:0009897"(external side of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0010008"(endosome membrane)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0010637"(negative regulation of mitochondrial fusion)|go:"GO:0016020"(membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030316"(osteoclast differentiation)|go:"GO:0030669"(clathrin-coated endocytic vesicle membrane)|go:"GO:0030890"(positive regulation of B cell proliferation)|go:"GO:0031334"(positive regulation of protein-containing complex assembly)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0031623"(receptor internalization)|go:"GO:0033138"(positive regulation of peptidyl-serine phosphorylation)|go:"GO:0033572"(transferrin transport)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0035690"|go:"GO:0042102"(positive regulation of T cell proliferation)|go:"GO:0042470"(melanosome)|go:"GO:0042802"(identical protein binding)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045780"(positive regulation of bone resorption)|go:"GO:0045830"(positive regulation of isotype switching)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0055037"(recycling endosome)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072562"(blood microparticle)|go:"GO:0150104"(transport across blood-brain barrier)|go:"GO:1900182"(positive regulation of protein localization to nucleus)|go:"GO:1903561"(extracellular vesicle)|go:"GO:1990712"(HFE-transferrin receptor complex)|go:"GO:1990830"(cellular response to leukemia inhibitory factor)|interpro:IPR003137(Protease-associated PA)|interpro:IPR007365(Transferrin receptor-like, dimerisation)|interpro:IPR007484(Peptidase M28)|interpro:IPR029513|interpro:IPR036757|interpro:IPR037324|interpro:IPR039373|mint:P02786|rcsb pdb:1CX8|rcsb pdb:1DE4|rcsb pdb:1SUV|rcsb pdb:2NSU|rcsb pdb:3KAS|rcsb pdb:3S9L|rcsb pdb:3S9M|rcsb pdb:3S9N|rcsb pdb:6D03|rcsb pdb:6D04|rcsb pdb:6D05|rcsb pdb:6GSR|rcsb pdb:6H5I|rcsb pdb:6OKD|rcsb pdb:6W3H|rcsb pdb:6WRV|rcsb pdb:6WRW|rcsb pdb:6WRX|rcsb pdb:6Y76|reactome:R-HSA-432722|reactome:R-HSA-8856825|reactome:R-HSA-8856828|reactome:R-HSA-8980692|reactome:R-HSA-9013026|reactome:R-HSA-9013106|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-9013404|reactome:R-HSA-9013406|reactome:R-HSA-9013407|reactome:R-HSA-9013408|reactome:R-HSA-9013409|reactome:R-HSA-9013423|reactome:R-HSA-917977|reactome:R-HSA-9696270|reactome:R-HSA-9696273|dip:DIP-2736N intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:TWJEaKElrOrDMMqSefG5icrTbIU9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q03135 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-603614|ensembl:ENSP00000339191|uniprotkb:Q9UGP1|uniprotkb:Q9UNG1|uniprotkb:Q9UQH6 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:cav1_human(display_long)|uniprotkb:CAV1(gene name)|psi-mi:CAV1(display_short)|uniprotkb:CAV(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0031623"(receptor internalization)|go:"GO:0031901"(early endosome membrane)|go:"GO:0032091"(negative regulation of protein binding)|go:"GO:0032092"(positive regulation of protein binding)|go:"GO:0032507"(maintenance of protein location in cell)|go:"GO:0032570"(response to progesterone)|go:"GO:0032991"(protein-containing complex)|go:"GO:0033137"(negative regulation of peptidyl-serine phosphorylation)|go:"GO:0033138"(positive regulation of peptidyl-serine phosphorylation)|go:"GO:0033484"(nitric oxide homeostasis)|go:"GO:0034141"(positive regulation of toll-like receptor 3 signaling pathway)|go:"GO:0038016"(insulin receptor internalization)|go:"GO:0042310"(vasoconstriction)|go:"GO:0042532"(negative regulation of tyrosine phosphorylation of STAT protein)|go:"GO:0042632"(cholesterol homeostasis)|go:"GO:0042802"(identical protein binding)|go:"GO:0043085"(positive regulation of catalytic activity)|go:"GO:0043407"(negative regulation of MAP kinase activity)|go:"GO:0043409"(negative regulation of MAPK cascade)|go:"GO:0043627"(response to estrogen)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0044860"(protein localization to plasma membrane raft)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045019"(negative regulation of nitric oxide biosynthetic process)|go:"GO:0045121"(membrane raft)|go:"GO:0045907"(positive regulation of vasoconstriction)|go:"GO:0046426"(negative regulation of receptor signaling pathway via JAK-STAT)|go:"GO:0031398"(positive regulation of protein ubiquitination)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048550"(negative regulation of pinocytosis)|go:"GO:0050998"(nitric-oxide synthase binding)|go:"GO:0051001"(negative regulation of nitric-oxide synthase activity)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0051117"(ATPase binding)|go:"GO:0051480"(regulation of cytosolic calcium ion concentration)|go:"GO:0051592"(response to calcium ion)|go:"GO:0051899"(membrane depolarization)|go:"GO:0052547"(regulation of peptidase activity)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0055074"(calcium ion homeostasis)|go:"GO:0060056"(mammary gland involution)|go:"GO:0060090"(molecular adaptor activity)|go:"GO:0060355"(positive regulation of cell adhesion molecule production)|go:"GO:0060546"(negative regulation of necroptotic process)|go:"GO:0061099"(negative regulation of protein tyrosine kinase activity)|go:"GO:0070320"(inward rectifier potassium channel inhibitor activity)|go:"GO:0070836"(caveola assembly)|go:"GO:0071360"(cellular response to exogenous dsRNA)|go:"GO:0071375"(cellular response to peptide hormone stimulus)|go:"GO:0071455"(cellular response to hyperoxia)|go:"GO:0071560"(cellular response to transforming growth factor beta stimulus)|go:"GO:0071711"(basement membrane organization)|go:"GO:0072584"(caveolin-mediated endocytosis)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0086098"(angiotensin-activated signaling pathway involved in heart process)|go:"GO:1903361"(protein localization to basolateral plasma membrane)|go:"GO:1903598"(positive regulation of gap junction assembly)|go:"GO:1903609"(negative regulation of inward rectifier potassium channel activity)|go:"GO:2000286"(receptor internalization involved in canonical Wnt signaling pathway)|go:"GO:0090090"(negative regulation of canonical Wnt signaling pathway)|go:"GO:2000535"(regulation of entry of bacterium into host cell)|go:"GO:2000811"(negative regulation of anoikis)|go:"GO:0090263"(positive regulation of canonical Wnt signaling pathway)|go:"GO:2001238"(positive regulation of extrinsic apoptotic signaling pathway)|go:"GO:2001244"(positive regulation of intrinsic apoptotic signaling pathway)|interpro:IPR001612(Caveolin)|interpro:IPR015504(Caveolin-1)|go:"GO:0097190"(apoptotic signaling pathway)|go:"GO:0098903"(regulation of membrane repolarization during action potential)|interpro:IPR018361|mint:Q03135|go:"GO:0098909"(regulation of cardiac muscle cell action potential involved in regulation of contraction)|reactome:R-HSA-163560|go:"GO:0098911"(regulation of ventricular cardiac muscle cell action potential)|go:"GO:0120162"(positive regulation of cold-induced thermogenesis)|reactome:R-HSA-203615|reactome:R-HSA-203641|reactome:R-HSA-210991|reactome:R-HSA-4641262|go:"GO:1900027"(regulation of ruffle assembly)|go:"GO:1900085"(negative regulation of peptidyl-tyrosine autophosphorylation)|go:"GO:1901380"(negative regulation of potassium ion transmembrane transport)|go:"GO:1901844"(regulation of cell communication by electrical coupling involved in cardiac conduction)|go:"GO:1903071"(positive regulation of ER-associated ubiquitin-dependent protein catabolic process)|reactome:R-HSA-5218920|reactome:R-HSA-8980692|reactome:R-HSA-9009391|reactome:R-HSA-9013026|reactome:R-HSA-9013106|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-9013404|reactome:R-HSA-9013405|reactome:R-HSA-9013406|reactome:R-HSA-9013407|reactome:R-HSA-9013408|reactome:R-HSA-9013409|reactome:R-HSA-9035034|reactome:R-HSA-9013423|reactome:R-HSA-9617828|reactome:R-HSA-9696264|reactome:R-HSA-9696270|reactome:R-HSA-9696273|ensembl:ENST00000341049(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000139"(Golgi membrane)|ensembl:ENSG00000105974(gene)|go:"GO:0001525"(angiogenesis)|go:"GO:0001570"(vasculogenesis)|go:"GO:0001666"(response to hypoxia)|go:"GO:0001937"(negative regulation of endothelial cell proliferation)|go:"GO:0001960"(negative regulation of cytokine-mediated signaling pathway)|go:"GO:0002080"(acrosomal membrane)|go:"GO:0002095"(caveolar macromolecular signaling complex)|go:"GO:0002931"(response to ischemia)|go:"GO:0003057"(regulation of the force of heart contraction by chemical signal)|go:"GO:0005102"(signaling receptor binding)|go:"GO:0005113"(patched binding)|go:"GO:0005768"(endosome)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005811"(lipid droplet)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005901"(caveola)|go:"GO:0005925"(focal adhesion)|go:"GO:0005929"(cilium)|go:"GO:0005938"(cell cortex)|go:"GO:0006641"(triglyceride metabolic process)|go:"GO:0006816"(calcium ion transport)|go:"GO:0006940"(regulation of smooth muscle contraction)|go:"GO:0007519"(skeletal muscle tissue development)|go:"GO:0007595"(lactation)|go:"GO:0008104"(protein localization)|go:"GO:0009267"(cellular response to starvation)|go:"GO:0009617"(response to bacterium)|go:"GO:0010524"(positive regulation of calcium ion transport into cytosol)|go:"GO:0010608"(posttranscriptional regulation of gene expression)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0010875"(positive regulation of cholesterol efflux)|go:"GO:0015031"(protein transport)|go:"GO:0015485"(cholesterol binding)|go:"GO:0016020"(membrane)|go:"GO:0016050"(vesicle organization)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0016504"(peptidase activator activity)|go:"GO:0019065"(receptor-mediated endocytosis of virus by host cell)|go:"GO:0019217"(regulation of fatty acid metabolic process)|go:"GO:0019899"(enzyme binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0019915"(lipid storage)|go:"GO:0030154"(cell differentiation)|go:"GO:0030193"(regulation of blood coagulation)|go:"GO:0030301"(cholesterol transport)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030512"(negative regulation of transforming growth factor beta receptor signaling pathway)|go:"GO:0030514"(negative regulation of BMP signaling pathway)|go:"GO:0030666"(endocytic vesicle membrane)|go:"GO:0030674"(protein-macromolecule adaptor activity)|go:"GO:0030857"(negative regulation of epithelial cell differentiation)|go:"GO:0030879"(mammary gland development)|go:"GO:0031267"(small GTPase binding)|go:"GO:0031295"(T cell costimulation)|go:"GO:0031397"(negative regulation of protein ubiquitination)|go:"GO:0006874"(cellular calcium ion homeostasis)|refseq:NP_001744.2|dip:DIP-5960N intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:+JhGp5YmhT3JLeTgHHBTHu9r34c9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9NNW5 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-1568315|uniprotkb:B4DHK2|uniprotkb:Q3MIT1|uniprotkb:Q9UF63|ensembl:ENSP00000477389 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:wdr6_human(display_long)|uniprotkb:WDR6(gene name)|psi-mi:WDR6(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_060501.3|refseq:NP_001307475.1|refseq:NP_001307476.1|ensembl:ENSG00000178252(gene)|ensembl:ENST00000608424(transcript)|go:"GO:0003723"(RNA binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0007049"(cell cycle)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0010507"(negative regulation of autophagy)|go:"GO:0030488"(tRNA methylation)|go:"GO:0032991"(protein-containing complex)|go:"GO:0043560"(insulin receptor substrate binding)|go:"GO:0051726"(regulation of cell cycle)|interpro:IPR001680(WD40 repeat)|interpro:IPR011043(Galactose oxidase/kelch, beta-propeller)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR036322|mint:Q9NNW5|reactome:R-HSA-9013420|reactome:R-HSA-9013424|reactome:R-HSA-9696264|reactome:R-HSA-9696270|reactome:R-HSA-9696273 intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:gYSDkyuDdKhj387/1P3bhpKJXy89606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q08357 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-11343371|ensembl:ENSP00000340465|ensembl:ENSP00000429712|ensembl:ENSP00000429754 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:s20a2_human(display_long)|uniprotkb:SLC20A2(gene name)|psi-mi:SLC20A2(display_short)|uniprotkb:GLVR2(gene name synonym)|uniprotkb:Gibbon ape leukemia virus receptor 2(gene name synonym)|uniprotkb:PIT2(gene name synonym)|uniprotkb:Phosphate transporter 2(gene name synonym)|uniprotkb:Solute carrier family 20 member 2(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001244109.1|refseq:NP_001244110.1|refseq:NP_006740.1|refseq:XP_005273670.1|ensembl:ENSG00000168575(gene)|ensembl:ENST00000342228(transcript)|ensembl:ENST00000520179(transcript)|ensembl:ENST00000520262(transcript)|go:"GO:0001618"(virus receptor activity)|go:"GO:0005315"(inorganic phosphate transmembrane transporter activity)|go:"GO:0005436"("sodium:phosphate symporter activity")|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006811"(ion transport)|go:"GO:0016020"(membrane)|go:"GO:0035435"(phosphate ion transmembrane transport)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001204(Phosphate transporter)|mint:Q08357|reactome:R-HSA-427652|reactome:R-HSA-5619111|refseq:XP_016869237.1 intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:V7jGfsl/dT/wycQHKNT88fYUByk9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P41743 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-286199|uniprotkb:Q8WW06|uniprotkb:D3DNQ4|ensembl:ENSP00000295797 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:kpci_human(display_long)|uniprotkb:nPKC-iota(gene name synonym)|uniprotkb:Atypical protein kinase C-lambda/iota(gene name synonym)|uniprotkb:PRKCI(gene name)|psi-mi:PRKCI(display_short)|uniprotkb:DXS1179E(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_002731.4|dip:DIP-31311N|ensembl:ENSG00000163558(gene)|ensembl:ENST00000295797(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0004672"(protein kinase activity)|go:"GO:0004674"(protein serine/threonine kinase activity)|go:"GO:0004697"(protein kinase C activity)|go:"GO:0004698"(calcium-dependent protein kinase C activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005543"(phospholipid binding)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005768"(endosome)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005923"(bicellular tight junction)|go:"GO:0006468"(protein phosphorylation)|go:"GO:0006612"(protein targeting to membrane)|go:"GO:0007010"(cytoskeleton organization)|go:"GO:0007015"(actin filament organization)|go:"GO:0010976"(positive regulation of neuron projection development)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0016192"(vesicle-mediated transport)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0016477"(cell migration)|go:"GO:0018105"(peptidyl-serine phosphorylation)|go:"GO:0031252"(cell leading edge)|go:"GO:0032869"(cellular response to insulin stimulus)|go:"GO:0034351"(negative regulation of glial cell apoptotic process)|go:"GO:0035089"(establishment of apical/basal cell polarity)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0042462"(eye photoreceptor cell development)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043220"(Schmidt-Lanterman incisure)|go:"GO:0043524"(negative regulation of neuron apoptotic process)|go:"GO:0045171"(intercellular bridge)|go:"GO:0045197"(establishment or maintenance of epithelial cell apical/basal polarity)|go:"GO:0045216"(cell-cell junction organization)|go:"GO:0045747"(positive regulation of Notch signaling pathway)|go:"GO:0046326"(positive regulation of glucose import)|go:"GO:0046872"(metal ion binding)|go:"GO:0046903"(secretion)|go:"GO:0048194"(Golgi vesicle budding)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0060252"(positive regulation of glial cell proliferation)|go:"GO:0061024"(membrane organization)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070555"(response to interleukin-1)|go:"GO:0098685"(Schaffer collateral - CA1 synapse)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099072"(regulation of postsynaptic membrane neurotransmitter receptor levels)|go:"GO:0106310"(protein serine kinase activity)|go:"GO:0106311"|go:"GO:1903078"(positive regulation of protein localization to plasma membrane)|go:"GO:2000353"(positive regulation of endothelial cell apoptotic process)|interpro:IPR000270(Octicosapeptide/Phox/Bem1p)|interpro:IPR000719(Protein kinase, core)|interpro:IPR000961(Protein kinase, C-terminal)|interpro:IPR002219(Protein kinase C, phorbol ester/diacylglycerol binding)|interpro:IPR008271(Serine/threonine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|interpro:IPR012233(Protein kinase C, zeta/iota)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR017892|interpro:IPR020454|interpro:IPR034661|interpro:IPR034877|mint:P41743|rcsb pdb:1VD2|rcsb pdb:1WMH|rcsb pdb:1ZRZ|rcsb pdb:3A8W|rcsb pdb:3A8X|rcsb pdb:3ZH8|rcsb pdb:5LI1|rcsb pdb:5LI9|rcsb pdb:5LIH|rcsb pdb:6ILZ|reactome:R-HSA-1912408|reactome:R-HSA-209543|reactome:R-HSA-420029 intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:v8sZdKjtlBejk0MH/9gwOjRqy+49606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9UM54-6 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-10983181 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q9um54-6(display_long)|uniprotkb:MYO6(gene name)|psi-mi:MYO6(display_short)|uniprotkb:KIAA0389(gene name synonym)|uniprotkb:Unconventional myosin-6(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-350606(isoform-parent) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:K5cPKynKujyw6SFFOGiH3abGhas9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9UIQ6-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067949|ensembl:ENSP00000231368 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q9uiq6-1(display_long)|uniprotkb:Insulin-regulated membrane aminopeptidase(gene name synonym)|uniprotkb:Insulin-responsive aminopeptidase(gene name synonym)|uniprotkb:Oxytocinase(gene name synonym)|uniprotkb:Placental leucine aminopeptidase(gene name synonym)|uniprotkb:LNPEP(gene name)|psi-mi:LNPEP(display_short)|uniprotkb:OTASE(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000113441(gene)|ensembl:ENST00000231368(transcript)|intact:EBI-2805360(isoform-parent) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:IOU7GW8f6aBYAjIUQXFKbU5Hqkw9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P08069 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-475981|uniprotkb:Q14CV2|uniprotkb:B1B5Y2|uniprotkb:Q9UCC0|ensembl:ENSP00000497069 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:igf1r_human(display_long)|uniprotkb:Insulin-like growth factor I receptor(gene name synonym)|uniprotkb:IGF1R(gene name)|psi-mi:IGF1R(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_000866.1|ensembl:ENSG00000140443(gene)|ensembl:ENST00000650285(transcript)|go:"GO:0004713"(protein tyrosine kinase activity)|go:"GO:0004714"(transmembrane receptor protein tyrosine kinase activity)|go:"GO:0005009"(insulin-activated receptor activity)|go:"GO:0005010"(insulin-like growth factor-activated receptor activity)|go:"GO:0005158"(insulin receptor binding)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005520"(insulin-like growth factor binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005899"(insulin receptor complex)|go:"GO:0043560"(insulin receptor substrate binding)|rcsb pdb:1JQH|go:"GO:0006955"(immune response)|refseq:NP_001278787.1|dip:DIP-476N|go:"GO:0007165"(signal transduction)|go:"GO:0007169"(transmembrane receptor protein tyrosine kinase signaling pathway)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0008286"(insulin receptor signaling pathway)|go:"GO:0014065"(phosphatidylinositol 3-kinase signaling)|go:"GO:0014068"(positive regulation of phosphatidylinositol 3-kinase signaling)|go:"GO:0016020"(membrane)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030424"(axon)|go:"GO:0031994"(insulin-like growth factor I binding)|go:"GO:0033674"(positive regulation of kinase activity)|go:"GO:0035867"(alphav-beta3 integrin-IGF-1-IGF1R complex)|go:"GO:0038083"(peptidyl-tyrosine autophosphorylation)|go:"GO:0042593"(glucose homeostasis)|go:"GO:0042802"(identical protein binding)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0043235"(receptor complex)|go:"GO:0043243"(positive regulation of protein-containing complex disassembly)|go:"GO:0043410"(positive regulation of MAPK cascade)|go:"GO:0043548"(phosphatidylinositol 3-kinase binding)|go:"GO:0043559"(insulin binding)|go:"GO:0045056"(transcytosis)|go:"GO:0046328"(regulation of JNK cascade)|go:"GO:0046777"(protein autophosphorylation)|go:"GO:0048009"(insulin-like growth factor receptor signaling pathway)|go:"GO:0048015"(phosphatidylinositol-mediated signaling)|go:"GO:0051389"(obsolete inactivation of MAPKK activity)|go:"GO:0051897"(positive regulation of protein kinase B signaling)|go:"GO:0071333"(cellular response to glucose stimulus)|go:"GO:0097062"(dendritic spine maintenance)|go:"GO:0097242"(amyloid-beta clearance)|go:"GO:0120162"(positive regulation of cold-induced thermogenesis)|go:"GO:0140318"(protein transporter activity)|go:"GO:1902911"(protein kinase complex)|go:"GO:1904646"(cellular response to amyloid-beta)|interpro:IPR000494(EGF receptor, L domain)|interpro:IPR000719(Protein kinase, core)|interpro:IPR001245(Tyrosine protein kinase)|interpro:IPR002011(Receptor tyrosine kinase, class II, conserved site)|interpro:IPR003961(Fibronectin, type III)|interpro:IPR006211(Furin-like cysteine rich region)|interpro:IPR006212(Furin-like repeat)|interpro:IPR008266(Tyrosine protein kinase, active site)|interpro:IPR009030(Growth factor, receptor)|interpro:IPR011009(Protein kinase-like)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR016246(Insulin receptor)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR020635|interpro:IPR036116|interpro:IPR036941|mint:P08069|rcsb pdb:1IGR|rcsb pdb:1K3A|rcsb pdb:1M7N|rcsb pdb:1P4O|rcsb pdb:2OJ9|rcsb pdb:2ZM3|rcsb pdb:3D94|rcsb pdb:3F5P|rcsb pdb:3I81|rcsb pdb:3LVP|rcsb pdb:3LW0|rcsb pdb:3NW5|rcsb pdb:3NW6|rcsb pdb:3NW7|rcsb pdb:3O23|rcsb pdb:3QQU|rcsb pdb:4D2R|rcsb pdb:4XSS|rcsb pdb:5FXQ|rcsb pdb:5FXR|rcsb pdb:5FXS|rcsb pdb:5HZN|rcsb pdb:5U8R|rcsb pdb:6JK8|rcsb pdb:6VWG|rcsb pdb:6VWH|rcsb pdb:6VWI|rcsb pdb:6VWJ|reactome:R-HSA-2404192|reactome:R-HSA-2428928|reactome:R-HSA-2428933|reactome:R-HSA-9009391|rcsb pdb:5U8Q intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:5RlIkDngFFJ/IO9tyZQnh1Riz0s9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P27986 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-79464|intact:EBI-28974553|ensembl:ENSP00000428056|ensembl:ENSP00000429277|uniprotkb:Q15747|uniprotkb:Q4VBZ7|uniprotkb:Q53EM6|uniprotkb:Q8IXA2|uniprotkb:Q8N1C5|uniprotkb:D3DWA0|uniprotkb:B3KT19|uniprotkb:E7EX19 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:p85a_human(display_long)|uniprotkb:PIK3R1(gene name)|psi-mi:PIK3R1(display_short)|uniprotkb:GRB1(gene name synonym)|uniprotkb:Phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001229395.1|refseq:NP_852556.2|refseq:NP_852664.1|refseq:NP_852665.1|ensembl:ENSG00000145675(gene)|ensembl:ENST00000521381(transcript)|ensembl:ENST00000521657(transcript)|go:"GO:0001678"(cellular glucose homeostasis)|go:"GO:0001784"(phosphotyrosine residue binding)|go:"GO:0001953"(negative regulation of cell-matrix adhesion)|go:"GO:0005068"(transmembrane receptor protein tyrosine kinase adaptor activity)|go:"GO:0005158"(insulin receptor binding)|go:"GO:0005159"(insulin-like growth factor receptor binding)|go:"GO:0005168"(neurotrophin TRKA receptor binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005801"(cis-Golgi network)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005942"(phosphatidylinositol 3-kinase complex)|go:"GO:0005943"(phosphatidylinositol 3-kinase complex, class IA)|go:"GO:0006468"(protein phosphorylation)|go:"GO:0006606"(protein import into nucleus)|go:"GO:0008134"(transcription factor binding)|go:"GO:0008286"(insulin receptor signaling pathway)|ensembl:ENST00000320694|ensembl:ENSP00000323512|ensembl:ENST00000336483|ensembl:ENSP00000338554|ensembl:ENSP00000428056|ensembl:ENSP00000429277|ensembl:ENST00000523872|ensembl:ENSP00000430098|rcsb pdb:5SXA|rcsb pdb:5SXB|rcsb pdb:5SXC|rcsb pdb:5SXD|rcsb pdb:5SXE|rcsb pdb:5SXF|rcsb pdb:5SXI|rcsb pdb:5SXJ|rcsb pdb:5SXK|rcsb pdb:5UBT|rcsb pdb:5UK8|rcsb pdb:5UKJ|rcsb pdb:5SX9|rcsb pdb:5UL1|rcsb pdb:5VLR|rcsb pdb:5XGH|rcsb pdb:5XGI|rcsb pdb:5XGJ|rcsb pdb:6NCT|rcsb pdb:6PYR|rcsb pdb:6PYU|reactome:R-HSA-1660499|rcsb pdb:7CIO|rcsb pdb:7LM2|reactome:R-HSA-180292|reactome:R-HSA-109704|reactome:R-HSA-1839117|reactome:R-HSA-112399|reactome:R-HSA-114604|reactome:R-HSA-1236382|reactome:R-HSA-186763|reactome:R-HSA-1963642|reactome:R-HSA-1250342|reactome:R-HSA-1257604|reactome:R-HSA-1266695|reactome:R-HSA-198203|reactome:R-HSA-202424|reactome:R-HSA-2029485|reactome:R-HSA-1433557|reactome:R-HSA-210993|reactome:R-HSA-2219530|reactome:R-HSA-2424491|reactome:R-HSA-2730905|reactome:R-HSA-373753|reactome:R-HSA-388841|reactome:R-HSA-389357|reactome:R-HSA-416476|reactome:R-HSA-430116|reactome:R-HSA-4420097|reactome:R-HSA-512988|reactome:R-HSA-5637810|reactome:R-HSA-5654689|reactome:R-HSA-5654695|reactome:R-HSA-5654710|reactome:R-HSA-5654720|reactome:R-HSA-9035034|reactome:R-HSA-912526|reactome:R-HSA-912631|reactome:R-HSA-9603381|reactome:R-HSA-9607240|reactome:R-HSA-9664565|reactome:R-HSA-9665348|reactome:R-HSA-9670439|reactome:R-HSA-9673767|reactome:R-HSA-9673770|reactome:R-HSA-9696264|reactome:R-HSA-9696270|reactome:R-HSA-9696273|reactome:R-HSA-9703465|reactome:R-HSA-9703648|reactome:R-HSA-983695|reactome:R-HSA-5655253|reactome:R-HSA-5655302|reactome:R-HSA-5673001|reactome:R-HSA-6785807|reactome:R-HSA-6811558|reactome:R-HSA-8851907|reactome:R-HSA-8853334|reactome:R-HSA-8853338|reactome:R-HSA-8853659|reactome:R-HSA-8980692|reactome:R-HSA-9009391|reactome:R-HSA-9013026|reactome:R-HSA-9013106|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-9013404|reactome:R-HSA-9013405|reactome:R-HSA-9013408|reactome:R-HSA-9013409|reactome:R-HSA-9013420|reactome:R-HSA-5655291|reactome:R-HSA-9013423|reactome:R-HSA-9013424|reactome:R-HSA-9027276|reactome:R-HSA-9028335|go:"GO:0008630"(intrinsic apoptotic signaling pathway in response to DNA damage)|go:"GO:0010592"(positive regulation of lamellipodium assembly)|go:"GO:0014065"(phosphatidylinositol 3-kinase signaling)|go:"GO:0016020"(membrane)|go:"GO:0019903"(protein phosphatase binding)|go:"GO:0030183"(B cell differentiation)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032869"(cellular response to insulin stimulus)|go:"GO:0033120"(positive regulation of RNA splicing)|go:"GO:0034446"(substrate adhesion-dependent cell spreading)|go:"GO:0008625"(extrinsic apoptotic signaling pathway via death domain receptors)|go:"GO:0034644"(cellular response to UV)|go:"GO:0034976"(response to endoplasmic reticulum stress)|go:"GO:0035014"(phosphatidylinositol 3-kinase regulator activity)|go:"GO:0036312"(phosphatidylinositol 3-kinase regulatory subunit binding)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0042307"(positive regulation of protein import into nucleus)|go:"GO:0046326"(positive regulation of glucose import)|go:"GO:0046626"(regulation of insulin receptor signaling pathway)|go:"GO:0046854"(phosphatidylinositol phosphate biosynthetic process)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043125"(ErbB-3 class receptor binding)|go:"GO:0043548"(phosphatidylinositol 3-kinase binding)|go:"GO:0046935"(1-phosphatidylinositol-3-kinase regulator activity)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0043551"(regulation of phosphatidylinositol 3-kinase activity)|go:"GO:0043559"(insulin binding)|go:"GO:0048009"(insulin-like growth factor receptor signaling pathway)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050821"(protein stabilization)|go:"GO:0051491"(positive regulation of filopodium assembly)|go:"GO:0043560"(insulin receptor substrate binding)|go:"GO:0051497"(negative regulation of stress fiber assembly)|go:"GO:0045671"(negative regulation of osteoclast differentiation)|go:"GO:0060396"(growth hormone receptor signaling pathway)|go:"GO:0120183"(positive regulation of focal adhesion disassembly)|go:"GO:1900103"(positive regulation of endoplasmic reticulum unfolded protein response)|go:"GO:1990578"(perinuclear endoplasmic reticulum membrane)|interpro:IPR000198(RhoGAP)|interpro:IPR000980(SH2 motif)|interpro:IPR001452(Src homology-3)|interpro:IPR008936(Rho GTPase activation protein)|interpro:IPR032498|interpro:IPR035020|interpro:IPR035022|interpro:IPR035591|interpro:IPR036028|interpro:IPR036860|interpro:IPR044124|mint:P27986|rcsb pdb:1A0N|rcsb pdb:1AZG|rcsb pdb:1H9O|rcsb pdb:1PBW|rcsb pdb:1PHT|rcsb pdb:1PIC|rcsb pdb:1PKS|rcsb pdb:1PKT|rcsb pdb:2IUG|go:"GO:1903078"(positive regulation of protein localization to plasma membrane)|rcsb pdb:2IUH|rcsb pdb:2IUI|rcsb pdb:2RD0|rcsb pdb:3HHM|rcsb pdb:3HIZ|rcsb pdb:3I5R|rcsb pdb:3I5S|rcsb pdb:4A55|rcsb pdb:4JPS|rcsb pdb:4L1B|rcsb pdb:4L23|rcsb pdb:4L2Y|rcsb pdb:4OVU|rcsb pdb:4OVV|rcsb pdb:4WAF|rcsb pdb:4YKN|rcsb pdb:4ZOP|rcsb pdb:5AUL|rcsb pdb:5FI4|rcsb pdb:5GJI|rcsb pdb:5ITD|rcsb pdb:5M6U|rcsb pdb:5SW8|rcsb pdb:5SWG|rcsb pdb:5SWO|rcsb pdb:2V1Y|rcsb pdb:5SWP|rcsb pdb:5SWR|rcsb pdb:5SWT|rcsb pdb:5SX8|refseq:XP_016865074.1|refseq:XP_005248599.1|dip:DIP-119N intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:pANLtVCSWVr64OXaS6bCjGBwfig9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P06213-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-15558981|ensembl:ENSP00000303830 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:p06213-1(display_long)|uniprotkb:INSR(gene name)|psi-mi:INSR(display_short)|uniprotkb:HIR-B(isoform synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-475899(isoform-parent)|ensembl:ENSG00000171105(gene)|ensembl:ENST00000302850(transcript) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:mLKbADp8yGfO+Kic/dzn3VFCZrc9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P41440 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-11343329|uniprotkb:O60227|uniprotkb:Q9BTX8|uniprotkb:E9PFY4|uniprotkb:Q13026|uniprotkb:B7Z8C3|uniprotkb:O00553|uniprotkb:B2R7U8|ensembl:ENSP00000308895 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:s19a1_human(display_long)|uniprotkb:SLC19A1(gene name)|psi-mi:SLC19A1(display_short)|uniprotkb:FLOT1(gene name synonym)|uniprotkb:Intestinal folate carrier 1(gene name synonym)|uniprotkb:Placental folate transporter(gene name synonym)|uniprotkb:RFC1(gene name synonym)|uniprotkb:Reduced folate carrier protein(gene name synonym)|uniprotkb:Solute carrier family 19 member 1(gene name synonym)|uniprotkb:Reduced folate transporter 1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001192135.1|refseq:NP_001192136.1|refseq:NP_919231.1|refseq:XP_011528002.1|refseq:XP_011528003.1|refseq:XP_011528004.1|refseq:XP_011528005.1|refseq:XP_011528006.1|refseq:XP_016883935.1|ensembl:ENSG00000173638(gene)|ensembl:ENST00000311124(transcript)|go:"GO:0005542"(folic acid binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0007565"(female pregnancy)|go:"GO:0008514"(organic anion transmembrane transporter activity)|go:"GO:0008517"(folic acid transmembrane transporter activity)|go:"GO:0008518"("folate:anion antiporter activity")|go:"GO:0015350"(methotrexate transmembrane transporter activity)|go:"GO:0015711"(organic anion transport)|go:"GO:0015884"(folic acid transport)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0031526"(brush border membrane)|go:"GO:0051958"(methotrexate transport)|go:"GO:0055085"(transmembrane transport)|go:"GO:0061507"(2',3'-cyclic GMP-AMP binding)|go:"GO:0098838"(folate transmembrane transport)|go:"GO:0140360"(cyclic-GMP-AMP transmembrane transporter activity)|go:"GO:0046655"(folic acid metabolic process)|go:"GO:0140361"(cyclic-GMP-AMP transmembrane import across plasma membrane)|go:"GO:0150104"(transport across blood-brain barrier)|go:"GO:1904447"(folate import across plasma membrane)|interpro:IPR002666(Reduced folate carrier)|interpro:IPR028339|interpro:IPR036259|reactome:R-HSA-196757 intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:+1ktLcfLycssQTR+2E32asXJWaQ9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q5VU97-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067941 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q5vu97-1(display_long)|uniprotkb:CACHD1(gene name)|psi-mi:CACHD1(display_short)|uniprotkb:KIAA1573(gene name synonym)|uniprotkb:VWCD1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-27067929|imex:IM-29166-3 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:Q5VU97-1(isoform-parent) intact:EBI-27067758(see-also) - - figure legend:Supplementary Table 3|comment:Mutant KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2021/08/17 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:Io41xKKbemHi77a58pRq2dhZj9Y9606 rigid:M7bmEobx9o2W1OjJ0PVZHA3kQMQ false mutation:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O75781 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-6448827|intact:EBI-28976029|ensembl:ENSP00000341911|uniprotkb:O43359|uniprotkb:O95673|uniprotkb:Q92559|uniprotkb:Q9UQS3|uniprotkb:Q9UPJ4|uniprotkb:Q9UQS2 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:palm_human(display_long)|uniprotkb:KIAA0270(gene name synonym)|uniprotkb:Paralemmin(gene name synonym)|uniprotkb:PALM(gene name)|psi-mi:PALM(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENST00000264560|ensembl:ENSP00000264560|ensembl:ENSP00000341911|ensembl:ENSG00000099864(gene)|ensembl:ENST00000338448(transcript)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005886"(plasma membrane)|go:"GO:0007010"(cytoskeleton organization)|go:"GO:0007193"(adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway)|go:"GO:0007194"(negative regulation of adenylate cyclase activity)|go:"GO:0008360"(regulation of cell shape)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016327"(apicolateral plasma membrane)|go:"GO:0030424"(axon)|go:"GO:0031235"(intrinsic component of the cytoplasmic side of the plasma membrane)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0031527"(filopodium membrane)|go:"GO:0031750"(D3 dopamine receptor binding)|go:"GO:0032591"(dendritic spine membrane)|go:"GO:0051491"(positive regulation of filopodium assembly)|go:"GO:0060074"(synapse maturation)|go:"GO:0060160"(negative regulation of dopamine receptor signaling pathway)|go:"GO:0071257"(cellular response to electrical stimulus)|interpro:IPR004965(Paralemmin)|go:"GO:0072659"(protein localization to plasma membrane)|refseq:NP_001035224.1|refseq:NP_002570.2 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:wXcL+l1AkAhJbWjX7lwRuZimKS09606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q8TDM6-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-9640840|ensembl:ENSP00000361467|ensembl:ENSP00000484894 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q8tdm6-1(display_long)|uniprotkb:DLG5(gene name)|psi-mi:DLG5(display_short)|uniprotkb:Discs large protein P-dlg(gene name synonym)|uniprotkb:KIAA0583(gene name synonym)|uniprotkb:PDLG(gene name synonym)|uniprotkb:Placenta and prostate DLG(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000151208(gene)|ensembl:ENSG00000274429(gene)|ensembl:ENST00000372391(transcript)|ensembl:ENST00000614211(transcript)|intact:EBI-715138(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:UmBC3Fli9huOHBiaXBtfPogAQCE9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q8N8Z6 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-7172570|ensembl:ENSP00000342422|uniprotkb:Q8IYK5|intact:MINT-4053610|uniprotkb:Q5H992|uniprotkb:Q96NH2|uniprotkb:Q8N7L9 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:dcbd1_human(display_long)|uniprotkb:DCBLD1(gene name)|psi-mi:DCBLD1(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000164465(gene)|ensembl:ENST00000338728(transcript)|go:"GO:0016021"(integral component of membrane)|interpro:IPR000421(Coagulation factor 5/8 type, C-terminal)|interpro:IPR000859(CUB)|interpro:IPR004043(LCCL)|interpro:IPR008979(Galactose-binding like)|interpro:IPR035914|interpro:IPR036609|mint:Q8N8Z6|refseq:NP_775945.1 - - comment:mint figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:mslWIg/IqtDNMJCtw55280F2b5w9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P07947 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-515331|uniprotkb:A6NLB3|uniprotkb:D3DUH1|intact:EBI-28995389|ensembl:ENSP00000324740|ensembl:ENSP00000462468 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:yes_human(display_long)|uniprotkb:p61-Yes(gene name synonym)|uniprotkb:Proto-oncogene c-Yes(gene name synonym)|uniprotkb:YES1(gene name)|psi-mi:YES1(display_short)|uniprotkb:YES(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:XP_016881449.1|refseq:NP_005424.1|ensembl:ENSP00000324740|ensembl:ENSP00000462468|dip:DIP-33849N|ensembl:ENSG00000176105(gene)|ensembl:ENST00000314574(transcript)|ensembl:ENST00000584307(transcript)|go:"GO:0001784"(phosphotyrosine residue binding)|go:"GO:0002862"(negative regulation of inflammatory response to antigenic stimulus)|go:"GO:0004713"(protein tyrosine kinase activity)|go:"GO:0004714"(transmembrane receptor protein tyrosine kinase activity)|go:"GO:0004715"(non-membrane spanning protein tyrosine kinase activity)|go:"GO:0005102"(signaling receptor binding)|go:"GO:0005154"(epidermal growth factor receptor binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005815"(microtubule organizing center)|go:"GO:0005829"(cytosol)|go:"GO:0005884"(actin filament)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006464"(cellular protein modification process)|go:"GO:0007169"(transmembrane receptor protein tyrosine kinase signaling pathway)|go:"GO:0010827"(regulation of glucose transmembrane transport)|go:"GO:0019899"(enzyme binding)|go:"GO:0030154"(cell differentiation)|go:"GO:0031234"(extrinsic component of cytoplasmic side of plasma membrane)|go:"GO:0031295"(T cell costimulation)|go:"GO:0036120"(cellular response to platelet-derived growth factor stimulus)|go:"GO:0038096"(Fc-gamma receptor signaling pathway involved in phagocytosis)|go:"GO:0043114"(regulation of vascular permeability)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0045087"(innate immune response)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046777"(protein autophosphorylation)|go:"GO:0048013"(ephrin receptor signaling pathway)|go:"GO:0050731"(positive regulation of peptidyl-tyrosine phosphorylation)|go:"GO:0050900"(leukocyte migration)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071300"(cellular response to retinoic acid)|go:"GO:0071560"(cellular response to transforming growth factor beta stimulus)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099091"(postsynaptic specialization, intracellular component)|interpro:IPR000719(Protein kinase, core)|interpro:IPR000980(SH2 motif)|interpro:IPR001245(Tyrosine protein kinase)|interpro:IPR001452(Src homology-3)|interpro:IPR008266(Tyrosine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR020635|interpro:IPR035751|interpro:IPR036028|interpro:IPR036860|mint:P07947|rcsb pdb:2HDA|reactome:R-HSA-1227986|reactome:R-HSA-1433557|reactome:R-HSA-1433559|reactome:R-HSA-2029481|reactome:R-HSA-210990|reactome:R-HSA-2682334|reactome:R-HSA-389356|reactome:R-HSA-389513|reactome:R-HSA-3928662|reactome:R-HSA-3928663|reactome:R-HSA-3928665|reactome:R-HSA-8940973|reactome:R-HSA-912631|reactome:R-HSA-9664323|reactome:R-HSA-9664422|reactome:R-HSA-9670439 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:Wo+NWxPVSmF8W6ZHQmTPpg3YuY09606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P56199 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-2554465|uniprotkb:B2RNU0|ensembl:ENSP00000282588 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:ita1_human(display_long)|uniprotkb:ITGA1(gene name)|psi-mi:ITGA1(display_short)|uniprotkb:Laminin and collagen receptor(gene name synonym)|uniprotkb:VLA-1(gene name synonym)|uniprotkb:CD49 antigen-like family member A(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_852478.1|go:"GO:0042059"(negative regulation of epidermal growth factor receptor signaling pathway)|go:"GO:0042311"(vasodilation)|go:"GO:0043005"(neuron projection)|go:"GO:0043204"(perikaryon)|go:"GO:0043525"(positive regulation of neuron apoptotic process)|go:"GO:0045121"(membrane raft)|go:"GO:0045123"(cellular extravasation)|go:"GO:0045178"(basal part of cell)|go:"GO:0046872"(metal ion binding)|go:"GO:0048812"(neuron projection morphogenesis)|go:"GO:0070062"(extracellular exosome)|go:"GO:0098639"(collagen binding involved in cell-matrix adhesion)|interpro:IPR000413(Integrins alpha chain)|interpro:IPR002035(von Willebrand factor, type A)|interpro:IPR013517(FG-GAP)|interpro:IPR013519(Integrin alpha beta-propellor)|interpro:IPR013649(Integrin alpha-2)|interpro:IPR018184|interpro:IPR028994|interpro:IPR032695|interpro:IPR036465|mint:P56199|rcsb pdb:1PT6|rcsb pdb:1QC5|rcsb pdb:1QCY|rcsb pdb:2L8S|rcsb pdb:2M32|rcsb pdb:4A0Q|rcsb pdb:5HGJ|reactome:R-HSA-216083|reactome:R-HSA-3000157|go:"GO:0034665"(integrin alpha1-beta1 complex)|reactome:R-HSA-416700|reactome:R-HSA-445355|reactome:R-HSA-447041|reactome:R-HSA-75892|ensembl:ENSG00000213949(gene)|ensembl:ENST00000282588(transcript)|go:"GO:0000187"(obsolete activation of MAPK activity)|go:"GO:0001669"(acrosomal vesicle)|go:"GO:0005102"(signaling receptor binding)|go:"GO:0005518"(collagen binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0007160"(cell-matrix adhesion)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0008305"(integrin complex)|go:"GO:0009897"(external side of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0016020"(membrane)|go:"GO:0019903"(protein phosphatase binding)|go:"GO:0030593"(neutrophil chemotaxis)|go:"GO:0032516"(positive regulation of phosphoprotein phosphatase activity)|dip:DIP-206N - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:rI8GnpuQlkN7TAnJ2eLpECEZOxs9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9H792 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-2609701|uniprotkb:Q6ZS78|uniprotkb:Q8TEG7|uniprotkb:Q8NCM3|uniprotkb:Q8NAZ4|ensembl:ENSP00000309230|ensembl:ENSP00000452796|ensembl:ENSP00000507603 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:peak1_human(display_long)|uniprotkb:PEAK1(gene name)|psi-mi:PEAK1(display_short)|uniprotkb:KIAA2002(gene name synonym)|uniprotkb:Sugen kinase 269(gene name synonym)|uniprotkb:Tyrosine-protein kinase SgK269(gene name synonym)|uniprotkb:Pseudopodium-enriched atypical kinase 1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:XP_011520335.1|refseq:XP_011520336.1|refseq:XP_011520337.1|refseq:XP_011520338.1|refseq:XP_011520339.1|refseq:XP_011520341.1|refseq:XP_011520340.1|refseq:NP_079052.2|refseq:XP_005254727.1|refseq:XP_005254728.1|refseq:XP_005254730.1|refseq:XP_005254731.1|refseq:XP_005254732.1|ensembl:ENSG00000173517(gene)|ensembl:ENST00000312493(transcript)|ensembl:ENST00000560626(transcript)|ensembl:ENST00000682557(transcript)|go:"GO:0004672"(protein kinase activity)|go:"GO:0004715"(non-membrane spanning protein tyrosine kinase activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005925"(focal adhesion)|go:"GO:0006468"(protein phosphorylation)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016477"(cell migration)|go:"GO:0034446"(substrate adhesion-dependent cell spreading)|go:"GO:0042802"(identical protein binding)|go:"GO:0046777"(protein autophosphorylation)|go:"GO:0048041"(focal adhesion assembly)|go:"GO:0051893"(regulation of focal adhesion assembly)|interpro:IPR000719(Protein kinase, core)|interpro:IPR008266(Tyrosine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|rcsb pdb:6BHC|reactome:R-HSA-9013420|reactome:R-HSA-9013424|ensembl:ENSP00000309230|ensembl:ENSP00000452796|ensembl:ENSP00000507603|dip:DIP-56276N - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:z2Q9mOQSYpc1fQJHovBCFsctX749606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q13308-6 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067763|ensembl:ENSP00000418754 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q13308-6(display_long)|uniprotkb:Colon carcinoma kinase 4(gene name synonym)|uniprotkb:Protein-tyrosine kinase 7(gene name synonym)|uniprotkb:Pseudo tyrosine kinase receptor 7(gene name synonym)|uniprotkb:Tyrosine-protein kinase-like 7(gene name synonym)|uniprotkb:PTK7(gene name)|psi-mi:PTK7(display_short)|uniprotkb:CCK4(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000112655(gene)|ensembl:ENST00000481273(transcript)|intact:EBI-2803245(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:L1C6ln4Ll/pYjda/D7xsLaDUmx09606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q92796 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-80440|ensembl:ENSP00000363480|uniprotkb:Q9ULI8|uniprotkb:Q5JUW7|uniprotkb:D3DVU5|uniprotkb:B4E0H1|uniprotkb:Q5JUW6 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:dlg3_human(display_long)|uniprotkb:DLG3(gene name)|psi-mi:DLG3(display_short)|uniprotkb:KIAA1232(gene name synonym)|uniprotkb:Synapse-associated protein 102(gene name synonym)|uniprotkb:Neuroendocrine-DLG(gene name synonym)|uniprotkb:XLMR(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000082458(gene)|ensembl:ENST00000374360(transcript)|go:"GO:0001736"(establishment of planar polarity)|go:"GO:0005615"(extracellular space)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005923"(bicellular tight junction)|go:"GO:0008022"(protein C-terminus binding)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0019900"(kinase binding)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0019902"(phosphatase binding)|go:"GO:0019903"(protein phosphatase binding)|go:"GO:0030054"(cell junction)|go:"GO:0030165"(PDZ domain binding)|go:"GO:0030426"(growth cone)|go:"GO:0031625"(ubiquitin protein ligase binding)|go:"GO:0032281"(AMPA glutamate receptor complex)|go:"GO:0035255"(ionotropic glutamate receptor binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043113"(receptor clustering)|go:"GO:0043198"(dendritic shaft)|go:"GO:0045197"(establishment or maintenance of epithelial cell apical/basal polarity)|go:"GO:0061098"(positive regulation of protein tyrosine kinase activity)|go:"GO:0097120"(receptor localization to synapse)|go:"GO:0098609"(cell-cell adhesion)|go:"GO:0098919"(structural constituent of postsynaptic density)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099072"(regulation of postsynaptic membrane neurotransmitter receptor levels)|go:"GO:0099092"(postsynaptic density, intracellular component)|interpro:IPR001452(Src homology-3)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR008144(Guanylate kinase)|interpro:IPR008145(Guanylate kinase/L-type calcium channel region)|interpro:IPR016313("Membrane-associated guanylate kinase (MAGUK) scaffold protein")|interpro:IPR019583|interpro:IPR019590|interpro:IPR020590|interpro:IPR027417|interpro:IPR035763|interpro:IPR036028|interpro:IPR036034|rcsb pdb:1UM7|rcsb pdb:2FE5|rcsb pdb:2I1N|reactome:R-HSA-438066|reactome:R-HSA-442982|reactome:R-HSA-447038|reactome:R-HSA-451308|reactome:R-HSA-5673001|reactome:R-HSA-6794361|reactome:R-HSA-8849932|reactome:R-HSA-9609736|reactome:R-HSA-9617324|reactome:R-HSA-9620244|refseq:NP_001159750.1|refseq:NP_065781.1|refseq:NP_066943.2|refseq:XP_005262305.1|refseq:XP_016884815.1 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:mnuw5iq2NexP1BL90IuQ1i21xo89606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P17301 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-702960|ensembl:ENSP00000296585|uniprotkb:Q14595 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:ita2_human(display_long)|uniprotkb:Platelet membrane glycoprotein Ia(gene name synonym)|uniprotkb:Collagen receptor(gene name synonym)|uniprotkb:VLA-2 subunit alpha(gene name synonym)|uniprotkb:CD49 antigen-like family member B(gene name synonym)|uniprotkb:ITGA2(gene name)|psi-mi:ITGA2(display_short)|uniprotkb:CD49B(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000164171(gene)|ensembl:ENST00000296585(transcript)|go:"GO:0001540"(amyloid-beta binding)|go:"GO:0001618"(virus receptor activity)|go:"GO:0001666"(response to hypoxia)|go:"GO:0002687"(positive regulation of leukocyte migration)|go:"GO:0005178"(integrin binding)|go:"GO:0005518"(collagen binding)|go:"GO:0005634"(nucleus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006929"(substrate-dependent cell migration)|go:"GO:0006971"(hypotonic response)|go:"GO:0007155"(cell adhesion)|go:"GO:0007160"(cell-matrix adhesion)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0007565"(female pregnancy)|go:"GO:0007596"(blood coagulation)|go:"GO:0008283"(cell population proliferation)|go:"GO:0008305"(integrin complex)|go:"GO:0009887"(animal organ morphogenesis)|go:"GO:0009897"(external side of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0010634"(positive regulation of epithelial cell migration)|go:"GO:0010694"(positive regulation of alkaline phosphatase activity)|go:"GO:0014075"(response to amine)|go:"GO:0014850"(response to muscle activity)|go:"GO:0014911"(positive regulation of smooth muscle cell migration)|go:"GO:0030879"(mammary gland development)|go:"GO:0031346"(positive regulation of cell projection organization)|go:"GO:0031589"(cell-substrate adhesion)|go:"GO:0032967"(positive regulation of collagen biosynthetic process)|go:"GO:0033343"(positive regulation of collagen binding)|go:"GO:0033591"(response to L-ascorbic acid)|go:"GO:0033627"(cell adhesion mediated by integrin)|go:"GO:0034666"(integrin alpha2-beta1 complex)|go:"GO:0038064"(collagen receptor activity)|go:"GO:0038065"(collagen-activated signaling pathway)|go:"GO:0042493"|go:"GO:0043236"(laminin binding)|go:"GO:0043388"(positive regulation of DNA binding)|go:"GO:0043395"(heparan sulfate proteoglycan binding)|go:"GO:0043589"(skin morphogenesis)|go:"GO:0043679"(axon terminus)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045178"(basal part of cell)|go:"GO:0045184"(establishment of protein localization)|go:"GO:0045727"(positive regulation of translation)|go:"GO:0045785"(positive regulation of cell adhesion)|go:"GO:0045987"(positive regulation of smooth muscle contraction)|go:"GO:0046872"(metal ion binding)|go:"GO:0048041"(focal adhesion assembly)|go:"GO:0048333"(mesodermal cell differentiation)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0048661"(positive regulation of smooth muscle cell proliferation)|go:"GO:0050729"(positive regulation of inflammatory response)|go:"GO:0050927"(positive regulation of positive chemotaxis)|go:"GO:0050966"(detection of mechanical stimulus involved in sensory perception of pain)|go:"GO:0051971"(positive regulation of transmission of nerve impulse)|go:"GO:0060100"(positive regulation of phagocytosis, engulfment)|go:"GO:0070365"(hepatocyte differentiation)|go:"GO:0071107"(response to parathyroid hormone)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071392"(cellular response to estradiol stimulus)|go:"GO:0098639"(collagen binding involved in cell-matrix adhesion)|interpro:IPR000413(Integrins alpha chain)|interpro:IPR002035(von Willebrand factor, type A)|interpro:IPR013517(FG-GAP)|interpro:IPR013519(Integrin alpha beta-propellor)|interpro:IPR013649(Integrin alpha-2)|interpro:IPR018184|interpro:IPR028994|interpro:IPR032695|interpro:IPR036465|mint:P17301|rcsb pdb:1AOX|rcsb pdb:1DZI|rcsb pdb:1PQB|rcsb pdb:1V7P|rcsb pdb:4BJ3|rcsb pdb:5HJ2|rcsb pdb:5THP|rcsb pdb:6ND8|rcsb pdb:6ND9|rcsb pdb:6NDA|rcsb pdb:6NDB|rcsb pdb:6NDC|rcsb pdb:6NDD|rcsb pdb:6NDE|rcsb pdb:6NDF|rcsb pdb:6NDG|rcsb pdb:6NDH|reactome:R-HSA-216083|reactome:R-HSA-3000157|reactome:R-HSA-3000170|reactome:R-HSA-3000178|reactome:R-HSA-447041|reactome:R-HSA-75892|reactome:R-HSA-8874081|refseq:NP_002194.2|dip:DIP-67N - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:+18cfTauTEyc6MdRfGpHYfDNEpk9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P04626-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-26664896|ensembl:ENSP00000269571 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:p04626-1(display_long)|uniprotkb:Metastatic lymph node gene 19 protein(gene name synonym)|uniprotkb:Proto-oncogene Neu(gene name synonym)|uniprotkb:Proto-oncogene c-ErbB-2(gene name synonym)|uniprotkb:Tyrosine kinase-type cell surface receptor HER2(gene name synonym)|uniprotkb:p185erbB2(gene name synonym)|uniprotkb:ERBB2(isoform synonym)|uniprotkb:HER2(isoform synonym)|uniprotkb:ERBB2(gene name)|psi-mi:ERBB2(display_short)|uniprotkb:HER2(gene name synonym)|uniprotkb:MLN19(gene name synonym)|uniprotkb:NEU(gene name synonym)|uniprotkb:NGL(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000141736(gene)|ensembl:ENST00000269571(transcript)|intact:EBI-641062(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:6o8GoqTQ64og/aKbzFZZMQ8gRHI9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9Y2G0 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-11343356|uniprotkb:B7WPL8|uniprotkb:Q86XU6|ensembl:ENSP00000384081 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:efr3b_human(display_long)|uniprotkb:EFR3B(gene name)|psi-mi:EFR3B(display_short)|uniprotkb:KIAA0953(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_055786.1|ensembl:ENSG00000084710(gene)|ensembl:ENST00000403714(transcript)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0046854"(phosphatidylinositol phosphate biosynthetic process)|go:"GO:0072659"(protein localization to plasma membrane)|interpro:IPR011989(Armadillo-like helical)|interpro:IPR016024(Armadillo-type fold) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:Xr+QyHH8mJp0xsGb/6jGGdH4gok9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q8N4S9-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067863 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q8n4s9-1(display_long)|uniprotkb:MARVELD2(gene name)|psi-mi:MARVELD2(display_short)|uniprotkb:TRIC(gene name synonym)|uniprotkb:A(isoform synonym)|uniprotkb:TRIC(isoform synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:Q8N4S9-1(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:WBHGueJq4y54+epedLVPcMvhhOU9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q92738-2 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-21913142 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q927382(display_long)|uniprotkb:USP6NL(gene name)|psi-mi:USP6NL(display_short)|uniprotkb:KIAA0019(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:Q92738-2(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:GitOdoqY1PAio/tkRHpSD0rea3U9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O60245-2 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-21531148 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:o602452(display_long)|uniprotkb:PCDH7(gene name)|psi-mi:PCDH7(display_short)|uniprotkb:BHPCDH(gene name synonym)|uniprotkb:BH-Pcdh-b(isoform synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:O60245-2(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:8h/tZ4AeQM7xg36RB6ygiiPCMhI9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:B7U540 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-19949648|uniprotkb:A0A075B742|uniprotkb:A0A142CKZ1|uniprotkb:A0A142CKZ2|ensembl:ENSP00000457807 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:kcj18_human(display_long)|uniprotkb:KCNJ18(gene name)|psi-mi:KCNJ18(display_short)|uniprotkb:"Inward rectifier K(+) channel Kir2.6"(gene name synonym)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 18(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001181887.2|ensembl:ENSG00000260458(gene)|ensembl:ENST00000567955(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005886"(plasma membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003272(Potassium channel, inwardly rectifying, Kir2.2)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:LMqVdLOYrXN7JgtuFRZ5xSS0clM9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q5T2T1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-2514004|ensembl:ENSP00000337907|ensembl:ENSP00000364871|ensembl:ENSP00000364884|ensembl:ENSP00000507917|uniprotkb:B2RCC9|uniprotkb:Q5T2T0|uniprotkb:B5MDZ3|uniprotkb:Q8IY28|uniprotkb:B4DWL9|uniprotkb:D3DRW3 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:mpp7_human(display_long)|uniprotkb:MPP7(gene name)|psi-mi:MPP7(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000150054(gene)|ensembl:ENST00000337532(transcript)|ensembl:ENST00000375719(transcript)|ensembl:ENST00000375732(transcript)|ensembl:ENST00000683449(transcript)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005912"(adherens junction)|go:"GO:0005923"(bicellular tight junction)|go:"GO:0005938"(cell cortex)|go:"GO:0016328"(lateral plasma membrane)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030010"(establishment of cell polarity)|go:"GO:0030054"(cell junction)|go:"GO:0031334"(positive regulation of protein-containing complex assembly)|go:"GO:0035591"(signaling adaptor activity)|go:"GO:0045296"(cadherin binding)|go:"GO:0060090"(molecular adaptor activity)|go:"GO:0070830"(bicellular tight junction assembly)|go:"GO:0071896"(protein localization to adherens junction)|interpro:IPR001452(Src homology-3)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR004172(L27)|interpro:IPR008144(Guanylate kinase)|interpro:IPR008145(Guanylate kinase/L-type calcium channel region)|interpro:IPR014775(L27, C-terminal)|interpro:IPR020590|interpro:IPR027417|interpro:IPR035599|interpro:IPR036028|interpro:IPR036034|interpro:IPR036892|mint:Q5T2T1|rcsb pdb:3LRA|rcsb pdb:3O46|reactome:R-HSA-9013149|reactome:R-HSA-9013404|reactome:R-HSA-9013406|reactome:R-HSA-9013408|go:"GO:0097025"(MPP7-DLG1-LIN7 complex)|reactome:R-HSA-9013409|reactome:R-HSA-9013423|refseq:XP_011517639.1|refseq:NP_001305099.1|refseq:NP_775767.2 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:QYVCkD5zsnTsCd7YsYsbQY8L7fU9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q96TA1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-2514593|uniprotkb:Q4LE55|uniprotkb:Q5VVW7|intact:EBI-28984656|ensembl:ENSP00000362409|uniprotkb:Q9NT35|uniprotkb:Q9BUS2|uniprotkb:Q5VVW6 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:niba2_human(display_long)|uniprotkb:NIBAN2(gene name)|psi-mi:NIBAN2(display_short)|uniprotkb:C9orf88(gene name synonym)|uniprotkb:FAM129B(gene name synonym)|uniprotkb:Meg-3(gene name synonym)|uniprotkb:Melanoma invasion by ERK(gene name synonym)|uniprotkb:Niban-like protein 1(gene name synonym)|uniprotkb:Protein FAM129B(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 go:"GO:2000679"(positive regulation of transcription regulatory region DNA binding)|interpro:IPR001849(Pleckstrin-like)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR026088|mint:Q96TA1|rcsb pdb:7CTP|ensembl:ENSG00000136830(gene)|ensembl:ENST00000373312(transcript)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0007411"(axon guidance)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0016525"(negative regulation of angiogenesis)|go:"GO:0030154"(cell differentiation)|go:"GO:0030948"(negative regulation of vascular endothelial growth factor receptor signaling pathway)|go:"GO:0032274"(gonadotropin secretion)|go:"GO:0040019"(positive regulation of embryonic development)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0044029"(hypomethylation of CpG island)|go:"GO:0045296"(cadherin binding)|go:"GO:0045746"(negative regulation of Notch signaling pathway)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0048743"(positive regulation of skeletal muscle fiber development)|go:"GO:0070062"(extracellular exosome)|go:"GO:2000279"(negative regulation of DNA biosynthetic process)|refseq:NP_001030611.1|refseq:NP_073744.2|ensembl:ENSP00000362409|ensembl:ENST00000373314|ensembl:ENSP00000362411 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:xdcw2BLz6uu0zyGi/NzvzPLrKUk9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O94910 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-3389315|uniprotkb:Q9BU07|uniprotkb:Q9HAR3|uniprotkb:Q96IE7|ensembl:ENSP00000340688|ensembl:ENSP00000500240 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:agrl1_human(display_long)|uniprotkb:ADGRL1(gene name)|psi-mi:ADGRL1(display_short)|uniprotkb:Calcium-independent alpha-latrotoxin receptor 1(gene name synonym)|uniprotkb:KIAA0821(gene name synonym)|uniprotkb:LEC2(gene name synonym)|uniprotkb:LPHN1(gene name synonym)|uniprotkb:Latrophilin-1(gene name synonym)|uniprotkb:Lectomedin-2(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001008701.1|refseq:NP_055736.2|ensembl:ENSG00000072071(gene)|ensembl:ENSG00000288324(gene)|ensembl:ENST00000340736(transcript)|ensembl:ENST00000672190(transcript)|go:"GO:0004930"(G protein-coupled receptor activity)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0007157"(heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules)|go:"GO:0007166"(cell surface receptor signaling pathway)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0007189"(adenylate cyclase-activating G protein-coupled receptor signaling pathway)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016524"(latrotoxin receptor activity)|go:"GO:0030246"(carbohydrate binding)|go:"GO:0030424"(axon)|go:"GO:0030426"(growth cone)|go:"GO:0035584"(calcium-mediated signaling using intracellular calcium source)|go:"GO:0042734"(presynaptic membrane)|go:"GO:0043005"(neuron projection)|go:"GO:0045202"(synapse)|go:"GO:0050839"(cell adhesion molecule binding)|go:"GO:0090129"(positive regulation of synapse maturation)|interpro:IPR000203(GPS)|interpro:IPR000832(GPCR, family 2, secretin-like)|interpro:IPR000922(D-galactoside/L-rhamnose binding SUEL lectin)|interpro:IPR001879(GPCR, family 2, extracellular region)|interpro:IPR003112(Olfactomedin-like)|interpro:IPR003334(GPCR, family 2, latrophilin, C-terminal)|interpro:IPR003924(GPCR, family 2, latrophilin)|interpro:IPR017981|interpro:IPR017983|interpro:IPR031234|interpro:IPR032471|interpro:IPR036445|interpro:IPR043159|mint:O94910 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:kHETaGfz/t0XytDX2HWU7/xty589606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q5T0W9 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-2556565|uniprotkb:Q96DQ2|uniprotkb:Q2M1P3|ensembl:ENSP00000304078 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:fa83b_human(display_long)|uniprotkb:C6orf143(gene name synonym)|uniprotkb:FAM83B(gene name)|psi-mi:FAM83B(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001010872.1|refseq:XP_011512696.1|refseq:XP_011512697.1|ensembl:ENSG00000168143(gene)|ensembl:ENST00000306858(transcript)|go:"GO:0005154"(epidermal growth factor receptor binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0007165"(signal transduction)|go:"GO:0007173"(epidermal growth factor receptor signaling pathway)|go:"GO:0008283"(cell population proliferation)|go:"GO:0016020"(membrane)|go:"GO:0019901"(protein kinase binding)|go:"GO:0036312"(phosphatidylinositol 3-kinase regulatory subunit binding)|go:"GO:0036313"(phosphatidylinositol 3-kinase catalytic subunit binding)|interpro:IPR012461(Protein of unknown function DUF1669)|rcsb pdb:5LZK|rcsb pdb:5QHI|rcsb pdb:5QHJ|rcsb pdb:5QHK|rcsb pdb:5QHL|rcsb pdb:5QHM|rcsb pdb:5QHN|rcsb pdb:5QHO|rcsb pdb:5QHP|rcsb pdb:5QHQ|rcsb pdb:5QHR|rcsb pdb:5QHS|reactome:R-HSA-9696264|reactome:R-HSA-9696270|reactome:R-HSA-9696273|refseq:XP_006715085.1|refseq:XP_016865967.1 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:WzQTBg74ImTqkPDdKRM0YVcGXPY9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P23229-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067857 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:p23229-1(display_long)|uniprotkb:ITGA6(gene name)|psi-mi:ITGA6(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:P23229-1(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:YyoW/gnP6QH8w7M9UxzVxMTkpOg9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P29320 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-1641575|uniprotkb:Q9H2V3|uniprotkb:Q9H2V4|ensembl:ENSP00000337451 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:epha3_human(display_long)|uniprotkb:EPHA3(gene name)|psi-mi:EPHA3(display_short)|uniprotkb:ETK(gene name synonym)|uniprotkb:ETK1(gene name synonym)|uniprotkb:TYRO4(gene name synonym)|uniprotkb:Tyrosine-protein kinase receptor ETK1(gene name synonym)|uniprotkb:HEK(gene name synonym)|uniprotkb:Tyrosine-protein kinase TYRO4(gene name synonym)|uniprotkb:EPH-like kinase 4(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_005224.2|refseq:NP_872585.1|dip:DIP-40307N|ensembl:ENSG00000044524(gene)|ensembl:ENST00000336596(transcript)|go:"GO:0004714"(transmembrane receptor protein tyrosine kinase activity)|go:"GO:0005003"(ephrin receptor activity)|go:"GO:0005004"(GPI-linked ephrin receptor activity)|go:"GO:0005005"(transmembrane-ephrin receptor activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005769"(early endosome)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0007155"(cell adhesion)|go:"GO:0007169"(transmembrane receptor protein tyrosine kinase signaling pathway)|go:"GO:0007411"(axon guidance)|go:"GO:0010717"(regulation of epithelial to mesenchymal transition)|go:"GO:0010976"(positive regulation of neuron projection development)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016477"(cell migration)|go:"GO:0018108"(peptidyl-tyrosine phosphorylation)|go:"GO:0031965"(nuclear membrane)|go:"GO:0032956"(regulation of actin cytoskeleton organization)|go:"GO:0033674"(positive regulation of kinase activity)|go:"GO:0043005"(neuron projection)|go:"GO:0043087"(regulation of GTPase activity)|go:"GO:0043235"(receptor complex)|go:"GO:0045806"(negative regulation of endocytosis)|go:"GO:0048013"(ephrin receptor signaling pathway)|go:"GO:0051893"(regulation of focal adhesion assembly)|go:"GO:0070507"(regulation of microtubule cytoskeleton organization)|go:"GO:0071300"(cellular response to retinoic acid)|go:"GO:0097155"(fasciculation of sensory neuron axon)|go:"GO:0097156"(fasciculation of motor neuron axon)|go:"GO:1903078"(positive regulation of protein localization to plasma membrane)|interpro:IPR000719(Protein kinase, core)|interpro:IPR001090(Ephrin receptor, ligand binding)|interpro:IPR001245(Tyrosine protein kinase)|interpro:IPR001426(Receptor tyrosine kinase, class V, conserved site)|interpro:IPR001660(Sterile alpha motif SAM)|interpro:IPR003961(Fibronectin, type III)|interpro:IPR008266(Tyrosine protein kinase, active site)|interpro:IPR008979(Galactose-binding like)|interpro:IPR009030(Growth factor, receptor)|interpro:IPR011009(Protein kinase-like)|interpro:IPR011641(GCC2 and GCC3)|interpro:IPR013761(Sterile alpha motif-type)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR016257(Tyrosine-protein kinase, ephrin receptor)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR020635|interpro:IPR027936|interpro:IPR034266|interpro:IPR036116|mint:P29320|rcsb pdb:2GSF|rcsb pdb:2QO7|rcsb pdb:2QO9|rcsb pdb:2QOB|rcsb pdb:2QOC|rcsb pdb:2QOD|rcsb pdb:2QOF|rcsb pdb:2QOI|rcsb pdb:2QOK|rcsb pdb:2QOL|rcsb pdb:2QON|rcsb pdb:2QOO|rcsb pdb:2QOQ|rcsb pdb:3DZQ|rcsb pdb:3FXX|rcsb pdb:3FY2|rcsb pdb:4G2F|rcsb pdb:4GK2|rcsb pdb:4GK3|rcsb pdb:4GK4|rcsb pdb:4L0P|rcsb pdb:4P4C|rcsb pdb:4P5Q|rcsb pdb:4P5Z|rcsb pdb:4TWN|rcsb pdb:4TWO|rcsb pdb:6IN0|reactome:R-HSA-2682334|reactome:R-HSA-3928663|reactome:R-HSA-3928665|rcsb pdb:2QO2 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:YtQaP5rZsiJHmhpkXDelGBeL8e49606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9P0V3-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067849 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q9p0v3-1(display_long)|uniprotkb:SH3BP4(gene name)|psi-mi:SH3BP4(display_short)|uniprotkb:BOG25(gene name synonym)|uniprotkb:EHB10(gene name synonym)|uniprotkb:TTP(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:Q9P0V3-1(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:tCXIWMmxXloCTB14zNmKOqTjr8g9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9P0K7-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067842|ensembl:ENSP00000265109|ensembl:ENSP00000388725|ensembl:ENSP00000422942 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q9p0k7-1(display_long)|uniprotkb:Ankyrin repeat and coiled-coil structure-containing protein(gene name synonym)|uniprotkb:Novel retinal pigment epithelial cell protein(gene name synonym)|uniprotkb:Retinoic acid-induced protein 14(gene name synonym)|uniprotkb:RAI14(gene name)|psi-mi:RAI14(display_short)|uniprotkb:KIAA1334(gene name synonym)|uniprotkb:NORPEG(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-1023749(isoform-parent)|ensembl:ENSG00000039560(gene)|ensembl:ENST00000265109(transcript)|ensembl:ENST00000428746(transcript)|ensembl:ENST00000503673(transcript) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:m5hQYx6HEi9QEAey1UiNpeAp6tw9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P33527-9 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067834 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:p33527-9(display_long)|uniprotkb:ABCC1(gene name)|psi-mi:ABCC1(display_short)|uniprotkb:MRP(gene name synonym)|uniprotkb:MRP1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:P33527-9(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:C/j3vvhJ7N2fLBXCXcdrw/HMKCc9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q14156-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067828 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q14156-1(display_long)|uniprotkb:EFR3A(gene name)|psi-mi:EFR3A(display_short)|uniprotkb:KIAA0143(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:Q14156-1(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:WWG8LKAY6O+CbAZdUzEZeo4wUc09606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q13393-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067822|ensembl:ENSP00000342793 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q13393-1(display_long)|uniprotkb:Choline phosphatase 1(gene name synonym)|uniprotkb:Phosphatidylcholine-hydrolyzing phospholipase D1(gene name synonym)|uniprotkb:PLD1(gene name)|psi-mi:PLD1(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-2827556(isoform-parent)|ensembl:ENSG00000075651(gene)|ensembl:ENST00000351298(transcript) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:4TlTbVJTGGyEAcq/Gby1STgUH4Q9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9UPS8-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-28956137 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q9ups8-1(display_long)|uniprotkb:ANKRD26(gene name)|psi-mi:ANKRD26(display_short)|uniprotkb:KIAA1074(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-3946096(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:54QEd9o6qSv6cl/C8q8zWRnGZhw9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q6ZVF9 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067802|ensembl:ENSP00000328672|ensembl:ENSP00000476603|uniprotkb:Q8IVE4 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:grin3_human(display_long)|uniprotkb:GPRIN3(gene name)|psi-mi:GPRIN3(display_short)|uniprotkb:KIAA2027(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000185477(gene)|ensembl:ENST00000333209(transcript)|ensembl:ENST00000609438(transcript)|go:"GO:0005886"(plasma membrane)|go:"GO:0031175"(neuron projection development)|interpro:IPR026646|interpro:IPR032745|refseq:NP_938022.2|refseq:XP_005262993.1|refseq:XP_005262994.1|refseq:XP_016863532.1|refseq:XP_016863533.1 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:lzLjtd9eeIVNPyumRoCosMlYhKo9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9BTT6 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-713489|uniprotkb:Q9HAC0|uniprotkb:Q9NVF1|ensembl:ENSP00000359925|uniprotkb:Q5TGN3 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:lrrc1_human(display_long)|uniprotkb:LAP and no PDZ protein(gene name synonym)|uniprotkb:LANO adapter protein(gene name synonym)|uniprotkb:LRRC1(gene name)|psi-mi:LRRC1(display_short)|uniprotkb:LANO(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000137269(gene)|ensembl:ENST00000370888(transcript)|go:"GO:0005829"(cytosol)|go:"GO:0016020"(membrane)|interpro:IPR001611(Leucine-rich repeat)|interpro:IPR003591(Leucine-rich repeat, typical subtype)|interpro:IPR032675|reactome:R-HSA-9696270|refseq:NP_060684.4|refseq:XP_011513028.1 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:FJ/8+gehIT2j2bJ8gYpkDht+//I9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9ULC8-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067794 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q9ulc8-1(display_long)|uniprotkb:ZDHHC8(gene name)|psi-mi:ZDHHC8(display_short)|uniprotkb:KIAA1292(gene name synonym)|uniprotkb:ZDHHCL1(gene name synonym)|uniprotkb:ZNF378(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:Q9ULC8-1(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:+BFeA0PuLWyDv0DhRxfAE073g8I9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P06756 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-298282|ensembl:ENSP00000261023|uniprotkb:A0AV67|uniprotkb:Q53SK4|uniprotkb:Q59EB7|uniprotkb:Q6LD15|uniprotkb:D3DPG8|intact:EBI-10984285|uniprotkb:B0LPF4|uniprotkb:B7Z883|uniprotkb:E7EWZ6|uniprotkb:B7ZLX0 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:itav_human(display_long)|uniprotkb:ITGAV(gene name)|psi-mi:ITGAV(display_short)|uniprotkb:VNRA(gene name synonym)|uniprotkb:Vitronectin receptor subunit alpha(gene name synonym)|uniprotkb:MSK8(gene name synonym)|uniprotkb:Vitronectin receptor(gene name synonym)|uniprotkb:VTNR(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000138448(gene)|ensembl:ENST00000261023(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0001570"(vasculogenesis)|go:"GO:0001618"(virus receptor activity)|go:"GO:0001846"(opsonin binding)|go:"GO:0001968"(fibronectin binding)|go:"GO:0002020"(protease binding)|go:"GO:0005080"(protein kinase C binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0007155"(cell adhesion)|go:"GO:0007160"(cell-matrix adhesion)|go:"GO:0007204"(positive regulation of cytosolic calcium ion concentration)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0008305"(integrin complex)|go:"GO:0009897"(external side of plasma membrane)|go:"GO:0005245"(voltage-gated calcium channel activity)|go:"GO:0009986"(cell surface)|go:"GO:0010745"(negative regulation of macrophage derived foam cell differentiation)|go:"GO:0010888"(negative regulation of lipid storage)|go:"GO:0015026"(coreceptor activity)|go:"GO:0016020"(membrane)|go:"GO:0016477"(cell migration)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:1990430"(extracellular matrix protein binding)|go:"GO:2000536"(negative regulation of entry of bacterium into host cell)|go:"GO:2001237"(negative regulation of extrinsic apoptotic signaling pathway)|interpro:IPR000413(Integrins alpha chain)|interpro:IPR013517(FG-GAP)|interpro:IPR013519(Integrin alpha beta-propellor)|interpro:IPR013649(Integrin alpha-2)|interpro:IPR018184|interpro:IPR028994|interpro:IPR032695|mint:P06756|rcsb pdb:1JV2|rcsb pdb:1L5G|rcsb pdb:1M1X|rcsb pdb:1U8C|rcsb pdb:3IJE|rcsb pdb:4G1E|rcsb pdb:4G1M|rcsb pdb:4MMX|rcsb pdb:4MMY|rcsb pdb:4MMZ|go:"GO:1905598"(negative regulation of low-density lipoprotein receptor activity)|rcsb pdb:4O02|rcsb pdb:4UM8|reactome:R-HSA-210990|reactome:R-HSA-2129379|reactome:R-HSA-216083|reactome:R-HSA-3000157|reactome:R-HSA-3000170|reactome:R-HSA-3000178|reactome:R-HSA-4420097|reactome:R-HSA-445144|reactome:R-HSA-6798695|rcsb pdb:5FFG|rcsb pdb:5FFO|rcsb pdb:5NEM|rcsb pdb:5NER|rcsb pdb:5NET|rcsb pdb:5NEU|rcsb pdb:6AVQ|rcsb pdb:6AVR|rcsb pdb:6AVU|rcsb pdb:6DJP|rcsb pdb:6MK0|rcsb pdb:6MSL|rcsb pdb:6MSU|rcsb pdb:6NAJ|rcsb pdb:6OM1|rcsb pdb:6OM2|rcsb pdb:6UJA|rcsb pdb:6UJB|rcsb pdb:4UM9|rcsb pdb:6UJC|reactome:R-HSA-1236973|reactome:R-HSA-1566948|go:"GO:0031258"(lamellipodium membrane)|go:"GO:0031527"(filopodium membrane)|go:"GO:0031528"(microvillus membrane)|go:"GO:0031589"(cell-substrate adhesion)|go:"GO:0032369"(negative regulation of lipid transport)|go:"GO:0032587"(ruffle membrane)|go:"GO:0033627"(cell adhesion mediated by integrin)|go:"GO:0033690"(positive regulation of osteoblast proliferation)|go:"GO:0034113"(heterotypic cell-cell adhesion)|go:"GO:0034446"(substrate adhesion-dependent cell spreading)|go:"GO:0034683"(integrin alphav-beta3 complex)|go:"GO:0034684"(integrin alphav-beta5 complex)|go:"GO:0034685"(integrin alphav-beta6 complex)|go:"GO:0034686"(integrin alphav-beta8 complex)|go:"GO:0035579"(specific granule membrane)|go:"GO:0035866"(alphav-beta3 integrin-PKCalpha complex)|go:"GO:0035867"(alphav-beta3 integrin-IGF-1-IGF1R complex)|go:"GO:0035868"(alphav-beta3 integrin-HMGB1 complex)|go:"GO:0035987"(endodermal cell differentiation)|go:"GO:0038027"(apolipoprotein A-I-mediated signaling pathway)|go:"GO:0043277"(apoptotic cell clearance)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045785"(positive regulation of cell adhesion)|go:"GO:0046718"(viral entry into host cell)|go:"GO:0046872"(metal ion binding)|go:"GO:0050431"(transforming growth factor beta binding)|go:"GO:0050748"(negative regulation of lipoprotein metabolic process)|go:"GO:0050764"(regulation of phagocytosis)|go:"GO:0050840"(extracellular matrix binding)|go:"GO:0050919"(negative chemotaxis)|go:"GO:0051057"(positive regulation of small GTPase mediated signal transduction)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070371"(ERK1 and ERK2 cascade)|go:"GO:0070588"(calcium ion transmembrane transport)|go:"GO:0071604"(transforming growth factor beta production)|go:"GO:0085017"(entry into host cell by a symbiont-containing vacuole)|go:"GO:0097192"(extrinsic apoptotic signaling pathway in absence of ligand)|go:"GO:1901388"(regulation of transforming growth factor beta activation)|go:"GO:1902533"(positive regulation of intracellular signal transduction)|refseq:NP_001138472.1|refseq:NP_002201.1|refseq:NP_001138471.1|dip:DIP-31785N - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:3XbANVuHd/2LJX6zckEV6xx09mY9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P12931-2 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-16400094|ensembl:ENSP00000362659 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:p12931-2(display_long)|uniprotkb:SRC(gene name)|psi-mi:SRC(display_short)|uniprotkb:SRC1(gene name synonym)|uniprotkb:Proto-oncogene c-Src(gene name synonym)|uniprotkb:pp60c-src(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000197122(gene)|ensembl:ENST00000373558(transcript)|intact:EBI-621482(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:WFJsHrjw9e+pT0U7naGREuKgJVU9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O60941-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-784173|ensembl:ENSP00000384084 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:o60941-1(display_long)|uniprotkb:DTN-B1(isoform synonym)|uniprotkb:DTNB(gene name)|psi-mi:DTNB(display_short)|uniprotkb:Beta-dystrobrevin(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-740402(dtnb_human)|ensembl:ENSG00000138101(gene)|ensembl:ENST00000406818(transcript) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:/yB9vgxJOii2Uk4riTNLOhf9gUk9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P78368 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-748380|uniprotkb:O00704|uniprotkb:Q8WUB1|uniprotkb:B5BU42|ensembl:ENSP00000255641 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:kc1g2_human(display_long)|uniprotkb:CK1G2(gene name synonym)|uniprotkb:CSNK1G2(gene name)|psi-mi:CSNK1G2(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001310.3|ensembl:ENSG00000133275(gene)|ensembl:ENST00000255641(transcript)|go:"GO:0004674"(protein serine/threonine kinase activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005938"(cell cortex)|go:"GO:0006468"(protein phosphorylation)|go:"GO:0006897"(endocytosis)|go:"GO:0007165"(signal transduction)|go:"GO:0016020"(membrane)|go:"GO:0016055"(Wnt signaling pathway)|go:"GO:0018105"(peptidyl-serine phosphorylation)|go:"GO:0030148"(sphingolipid biosynthetic process)|go:"GO:0046777"(protein autophosphorylation)|go:"GO:0090263"(positive regulation of canonical Wnt signaling pathway)|go:"GO:0106310"(protein serine kinase activity)|go:"GO:0106311"|interpro:IPR000719(Protein kinase, core)|interpro:IPR008271(Serine/threonine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR022247|rcsb pdb:2C47|reactome:R-HSA-1660661|reactome:R-HSA-4641262 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:h+GOdcwwLTmwj0dQKT1JQGwoaC09606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9Y4F1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-5235630|uniprotkb:Q6IQ29|uniprotkb:Q5JVI9|ensembl:ENSP00000322926 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:farp1_human(display_long)|uniprotkb:FARP1(gene name)|psi-mi:FARP1(display_short)|uniprotkb:CDEP(gene name synonym)|uniprotkb:PLEKHC2(gene name synonym)|uniprotkb:Chondrocyte-derived ezrin-like protein(gene name synonym)|uniprotkb:Pleckstrin homology domain-containing family C member 2(gene name synonym)|uniprotkb:FERM, RhoGEF and pleckstrin domain-containing protein 1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_005757.1|refseq:NP_001273768.1|refseq:NP_001001715.2|refseq:XP_016875801.1|ensembl:ENSG00000152767(gene)|ensembl:ENST00000319562(transcript)|go:"GO:0005085"(guanyl-nucleotide exchange factor activity)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0007416"(synapse assembly)|go:"GO:0008092"(cytoskeletal protein binding)|go:"GO:0030175"(filopodium)|go:"GO:0030425"(dendrite)|go:"GO:0031234"(extrinsic component of cytoplasmic side of plasma membrane)|go:"GO:0031267"(small GTPase binding)|go:"GO:0043197"(dendritic spine)|go:"GO:0048813"(dendrite morphogenesis)|go:"GO:0098890"(extrinsic component of postsynaptic membrane)|go:"GO:0098942"(retrograde trans-synaptic signaling by trans-synaptic protein complex)|go:"GO:0098974"(postsynaptic actin cytoskeleton organization)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:1905606"(regulation of presynapse assembly)|interpro:IPR000219("Dbl homology (DH) domain")|interpro:IPR000299(Band 4.1, N-terminal)|interpro:IPR000798(Ezrin/radixin/moesin ERM)|interpro:IPR001849(Pleckstrin-like)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR014352(FERM/acyl-CoA-binding protein, 3-helical bundle)|interpro:IPR014847("FERM adjacent (FA)")|interpro:IPR018979|interpro:IPR018980|interpro:IPR019747|interpro:IPR019748|interpro:IPR019749|interpro:IPR029071|interpro:IPR035899|interpro:IPR035963|interpro:IPR041788|mint:Q9Y4F1|rcsb pdb:4H6Y|reactome:R-HSA-8980692|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-9035034 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:EFAIqKR/G9qOxNYCZqkJDSqU+TU9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q99835 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-766024|uniprotkb:A4D1K5|ensembl:ENSP00000249373 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:smo_human(display_long)|uniprotkb:Protein Gx(gene name synonym)|uniprotkb:SMO(gene name)|psi-mi:SMO(display_short)|uniprotkb:SMOH(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_005622.1|dip:DIP-34574N|go:"GO:0042307"(positive regulation of protein import into nucleus)|go:"GO:0042475"(odontogenesis of dentin-containing tooth)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0043392"(negative regulation of DNA binding)|go:"GO:0045880"(positive regulation of smoothened signaling pathway)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046622"(positive regulation of organ growth)|go:"GO:0048143"(astrocyte activation)|go:"GO:0048741"(skeletal muscle fiber development)|go:"GO:0048745"(smooth muscle tissue development)|go:"GO:0048853"(forebrain morphogenesis)|go:"GO:0048873"(homeostasis of number of cells within a tissue)|go:"GO:0040018"(positive regulation of multicellular organism growth)|ensembl:ENSG00000128602(gene)|ensembl:ENST00000249373(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0001570"(vasculogenesis)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0001708"(cell fate specification)|go:"GO:0001755"(neural crest cell migration)|go:"GO:0001947"(heart looping)|go:"GO:0002052"(positive regulation of neuroblast proliferation)|go:"GO:0002053"(positive regulation of mesenchymal cell proliferation)|go:"GO:0003140"(determination of left/right asymmetry in lateral mesoderm)|go:"GO:0003323"(type B pancreatic cell development)|go:"GO:0004930"(G protein-coupled receptor activity)|go:"GO:0005113"(patched binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0005929"(cilium)|go:"GO:0007224"(smoothened signaling pathway)|go:"GO:0007228"(positive regulation of hh target transcription factor activity)|go:"GO:0007371"(ventral midline determination)|go:"GO:0007494"(midgut development)|go:"GO:0009952"(anterior/posterior pattern specification)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0016021"(integral component of membrane)|go:"GO:0021542"(dentate gyrus development)|go:"GO:0021696"(cerebellar cortex morphogenesis)|go:"GO:0021794"(thalamus development)|go:"GO:0021904"(dorsal/ventral neural tube patterning)|go:"GO:0021910"(smoothened signaling pathway involved in ventral spinal cord patterning)|go:"GO:0021938"(smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation)|go:"GO:0021953"(central nervous system neuron differentiation)|go:"GO:0021987"(cerebral cortex development)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030425"(dendrite)|go:"GO:0030666"(endocytic vesicle membrane)|go:"GO:0030857"(negative regulation of epithelial cell differentiation)|go:"GO:0031069"(hair follicle morphogenesis)|go:"GO:0034504"(protein localization to nucleus)|go:"GO:0035264"(multicellular organism growth)|go:"GO:0007417"(central nervous system development)|rcsb pdb:6OT0|rcsb pdb:6XBJ|rcsb pdb:6XBK|rcsb pdb:6XBL|rcsb pdb:6XBM|reactome:R-HSA-373080|reactome:R-HSA-5610787|reactome:R-HSA-5620922|reactome:R-HSA-5632684|reactome:R-HSA-5635838|go:"GO:0050821"(protein stabilization)|go:"GO:0051451"(myoblast migration)|go:"GO:0051799"(negative regulation of hair follicle development)|go:"GO:0060170"(ciliary membrane)|go:"GO:0060242"(contact inhibition)|go:"GO:0060413"(atrial septum morphogenesis)|go:"GO:0060644"(mammary gland epithelial cell differentiation)|go:"GO:0060684"(epithelial-mesenchymal cell signaling)|go:"GO:0061053"(somite development)|go:"GO:0061113"(pancreas morphogenesis)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070986"(left/right axis specification)|go:"GO:0071397"(cellular response to cholesterol)|go:"GO:0071679"(commissural neuron axon guidance)|go:"GO:0072285"(mesenchymal to epithelial transition involved in metanephric renal vesicle formation)|go:"GO:0090190"(positive regulation of branching involved in ureteric bud morphogenesis)|go:"GO:0097542"(ciliary tip)|go:"GO:0097731"(9+0 non-motile cilium)|go:"GO:2000036"(regulation of stem cell population maintenance)|go:"GO:0050679"(positive regulation of epithelial cell proliferation)|go:"GO:2000826"(regulation of heart morphogenesis)|interpro:IPR000539(Frizzled protein)|interpro:IPR015526(Frizzled related)|interpro:IPR017981|interpro:IPR020067|interpro:IPR026544|interpro:IPR035683|interpro:IPR036790|interpro:IPR041771|mint:Q99835|rcsb pdb:4JKV|rcsb pdb:4N4W|rcsb pdb:4O9R|rcsb pdb:4QIM|rcsb pdb:4QIN|rcsb pdb:5L7D|rcsb pdb:5L7I|rcsb pdb:5V56|rcsb pdb:5V57 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:U/2EljQsTdy+9hVvzURz0CkburQ9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9Y6M4-4 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067789|ensembl:ENSP00000423838 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q9y6m4-4(display_long)|uniprotkb:CSNK1G3(gene name)|psi-mi:CSNK1G3(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-1383789(isoform-parent)|ensembl:ENSG00000151292(gene)|ensembl:ENST00000510842(transcript) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:mcxjcknMJM5fbBVaTkQ2LlFQWco9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q96Q45-3 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067783 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q96q45-3(display_long)|uniprotkb:Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein(gene name synonym)|uniprotkb:TMEM237(gene name)|psi-mi:TMEM237(display_short)|uniprotkb:ALS2CR4(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-2602465(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:sRHMyCiApROaw+X/TZlIU5bBggQ9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P48067-2 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-21504469|ensembl:ENSP00000361384|ensembl:ENSP00000501314 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:p48067-2(display_long)|uniprotkb:SLC6A9(gene name)|psi-mi:SLC6A9(display_short)|uniprotkb:Solute carrier family 6 member 9(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000196517(gene)|ensembl:ENST00000372310(transcript)|ensembl:ENST00000673836(transcript)|uniprotkb:P48067-2(isoform-parent)|intact:EBI-1222295(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:R4k0CL5lfmljsNivnzpNTSVXVHQ9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O14936 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-1215506|uniprotkb:Q5VT18|uniprotkb:Q5VT19|uniprotkb:Q66T42|uniprotkb:A6NES1|uniprotkb:O43215|uniprotkb:Q17RI4|uniprotkb:Q59HA0|uniprotkb:Q5VT16|uniprotkb:Q5VT17|uniprotkb:Q9BYH6|uniprotkb:Q9NYB2|uniprotkb:Q9NYB3|uniprotkb:B7ZKY0|ensembl:ENSP00000367405 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:cskp_human(display_long)|uniprotkb:CASK(gene name)|psi-mi:CASK(display_short)|uniprotkb:LIN2(gene name synonym)|uniprotkb:Calcium/calmodulin-dependent serine protein kinase(gene name synonym)|uniprotkb:Protein lin-2 homolog(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001119526.1|refseq:NP_001119527.1|refseq:NP_003679.2|dip:DIP-38727N|ensembl:ENSG00000147044(gene)|ensembl:ENST00000378163(transcript)|go:"GO:0001953"(negative regulation of cell-matrix adhesion)|go:"GO:0004385"(guanylate kinase activity)|go:"GO:0004674"(protein serine/threonine kinase activity)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005604"(basement membrane)|go:"GO:0005652"(nuclear lamina)|go:"GO:0005730"(nucleolus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0007155"(cell adhesion)|go:"GO:0010839"(negative regulation of keratinocyte proliferation)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016363"(nuclear matrix)|go:"GO:0031982"(vesicle)|go:"GO:0042043"(neurexin family protein binding)|go:"GO:0042734"(presynaptic membrane)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0060170"(ciliary membrane)|go:"GO:0061045"(negative regulation of wound healing)|go:"GO:0070509"(calcium ion import)|go:"GO:0090280"(positive regulation of calcium ion import)|go:"GO:0090288"(negative regulation of cellular response to growth factor stimulus)|rcsb pdb:3MFT|rcsb pdb:3MFU|rcsb pdb:3TAC|rcsb pdb:6KMH|rcsb pdb:7OAI|rcsb pdb:7OAJ|rcsb pdb:7OAK|rcsb pdb:7OAL|reactome:R-HSA-212676|reactome:R-HSA-3000170|reactome:R-HSA-373753|reactome:R-HSA-6794361|reactome:R-HSA-9609736|reactome:R-HSA-9662360|reactome:R-HSA-9662361|go:"GO:0106310"(protein serine kinase activity)|go:"GO:0106311"|go:"GO:2000300"(regulation of synaptic vesicle exocytosis)|go:"GO:0098685"(Schaffer collateral - CA1 synapse)|interpro:IPR000719(Protein kinase, core)|interpro:IPR001452(Src homology-3)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR004172(L27)|interpro:IPR008144(Guanylate kinase)|interpro:IPR008145(Guanylate kinase/L-type calcium channel region)|interpro:IPR011009(Protein kinase-like)|interpro:IPR014775(L27, C-terminal)|interpro:IPR020590|interpro:IPR027417|interpro:IPR035473|interpro:IPR036028|interpro:IPR036034|interpro:IPR036892|mint:O14936|rcsb pdb:1KGD|rcsb pdb:1KWA|rcsb pdb:1ZL8|rcsb pdb:3C0G|rcsb pdb:3C0H|rcsb pdb:3C0I|rcsb pdb:3MFR|rcsb pdb:3MFS - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:zTaBgQexJON3EVgJq9FHjf+aSCY9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q6WCQ1-2 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-10965272|ensembl:ENSP00000379156 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q6wcq1-2(display_long)|uniprotkb:MPRIP(gene name)|psi-mi:MPRIP(display_short)|uniprotkb:KIAA0864(gene name synonym)|uniprotkb:MRIP(gene name synonym)|uniprotkb:RHOIP3(gene name synonym)|uniprotkb:Rho-interacting protein 3(gene name synonym)|uniprotkb:p116Rip(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000133030(gene)|ensembl:ENST00000395811(transcript)|intact:EBI-1022605(isoform-parent)|uniprotkb:Q6WCQ1-2(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:lBw4zzWo+61X7AhdzomRUL4l4nA9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q13683-7 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067776 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q13683-7(display_long)|uniprotkb:ITGA7(gene name)|psi-mi:ITGA7(display_short)|uniprotkb:UNQ406/PRO768(orf name) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:Q13683-7(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:AwaSVQgMTRMNzL+mOiqUqrqKVLM9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P24588 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-703640|uniprotkb:A2RRB8|ensembl:ENSP00000315615|ensembl:ENSP00000378207 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:akap5_human(display_long)|uniprotkb:A-kinase anchor protein 79 kDa(gene name synonym)|uniprotkb:cAMP-dependent protein kinase regulatory subunit II high affinity-binding protein(gene name synonym)|uniprotkb:H21(gene name synonym)|uniprotkb:AKAP5(gene name)|psi-mi:AKAP5(display_short)|uniprotkb:AKAP79(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_004848.3|dip:DIP-186N|ensembl:ENSG00000179841(gene)|ensembl:ENST00000320636(transcript)|ensembl:ENST00000394718(transcript)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0007165"(signal transduction)|go:"GO:0007193"(adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway)|go:"GO:0007194"(negative regulation of adenylate cyclase activity)|go:"GO:0007268"(chemical synaptic transmission)|go:"GO:0008179"(adenylate cyclase binding)|go:"GO:0009898"(cytoplasmic side of plasma membrane)|go:"GO:0010738"(regulation of protein kinase A signaling)|go:"GO:0014069"(postsynaptic density)|go:"GO:0017124"(SH3 domain binding)|go:"GO:0030346"(protein phosphatase 2B binding)|go:"GO:0031698"(beta-2 adrenergic receptor binding)|go:"GO:0032590"(dendrite membrane)|go:"GO:0034237"(protein kinase A regulatory subunit binding)|go:"GO:0035254"(glutamate receptor binding)|go:"GO:0043197"(dendritic spine)|go:"GO:0045121"(membrane raft)|go:"GO:0045762"(positive regulation of adenylate cyclase activity)|go:"GO:0050811"(GABA receptor binding)|go:"GO:0051018"(protein kinase A binding)|go:"GO:0060076"(excitatory synapse)|go:"GO:0060090"(molecular adaptor activity)|go:"GO:0097110"(scaffold protein binding)|go:"GO:0098837"(postsynaptic recycling endosome)|go:"GO:1900273"(positive regulation of long-term synaptic potentiation)|go:"GO:1903078"(positive regulation of protein localization to plasma membrane)|go:"GO:1905751"(positive regulation of endosome to plasma membrane protein transport)|interpro:IPR001573(Protein kinase A anchoring region)|interpro:IPR042375|mint:P24588|rcsb pdb:2H9R|rcsb pdb:3LL8|rcsb pdb:5NIN|reactome:R-HSA-381676|reactome:R-HSA-399719|reactome:R-HSA-9010642 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:sprVt4+r5Bkdl+FVefWWqs783y09606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9Y624 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-742600|uniprotkb:B7Z941|ensembl:ENSP00000357005 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:jam1_human(display_long)|uniprotkb:Junctional adhesion molecule 1(gene name synonym)|uniprotkb:Platelet adhesion molecule 1(gene name synonym)|uniprotkb:Platelet F11 receptor(gene name synonym)|uniprotkb:F11R(gene name)|psi-mi:F11R(display_short)|uniprotkb:JAM1(gene name synonym)|uniprotkb:JCAM(gene name synonym)|uniprotkb:UNQ264/PRO301(orf name) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_058642.1|ensembl:ENSG00000158769(gene)|ensembl:ENST00000368026(transcript)|go:"GO:0001618"(virus receptor activity)|go:"GO:0001817"(regulation of cytokine production)|go:"GO:0005178"(integrin binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005923"(bicellular tight junction)|go:"GO:0006954"(inflammatory response)|go:"GO:0007159"(leukocyte cell-cell adhesion)|go:"GO:0008360"(regulation of cell shape)|go:"GO:0045296"(cadherin binding)|go:"GO:0045777"(positive regulation of blood pressure)|go:"GO:0050892"(intestinal absorption)|go:"GO:0051493"(regulation of cytoskeleton organization)|go:"GO:0051497"(negative regulation of stress fiber assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070160"(tight junction)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0090557"(establishment of endothelial intestinal barrier)|go:"GO:0090559"(regulation of membrane permeability)|go:"GO:0098609"(cell-cell adhesion)|go:"GO:1901731"(positive regulation of platelet aggregation)|go:"GO:1902396"(protein localization to bicellular tight junction)|go:"GO:1903142"(positive regulation of establishment of endothelial barrier)|go:"GO:2000249"(regulation of actin cytoskeleton reorganization)|go:"GO:2000810"(regulation of bicellular tight junction assembly)|interpro:IPR003598(Immunoglobulin subtype 2)|interpro:IPR003599(Immunoglobulin subtype)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR013106(Immunoglobulin V-set)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR036179|interpro:IPR042456|mint:Q9Y624|rcsb pdb:1NBQ|rcsb pdb:3EOY|rcsb pdb:3TSZ|rcsb pdb:4ODB|reactome:R-HSA-202733|reactome:R-HSA-216083|reactome:R-HSA-2173791|reactome:R-HSA-420029|go:"GO:0016021"(integral component of membrane)|go:"GO:0030054"(cell junction)|go:"GO:0030165"(PDZ domain binding)|go:"GO:0031032"(actomyosin structure organization)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0032956"(regulation of actin cytoskeleton organization)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034260"(negative regulation of GTPase activity)|go:"GO:0035025"(positive regulation of Rho protein signal transduction)|go:"GO:0035633"(maintenance of blood-brain barrier)|go:"GO:0035683"(memory T cell extravasation)|go:"GO:0036057"(slit diaphragm)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043547"(positive regulation of GTPase activity)|go:"GO:0009314"(response to radiation)|refseq:NP_001335020.1 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:9TaktSbIwjn9jMYlv86aB44hwes9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9UJF2-2 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-12171247|ensembl:ENSP00000356621 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q9ujf2-2(display_long)|uniprotkb:RASAL2(gene name)|psi-mi:RASAL2(display_short)|uniprotkb:NGAP(gene name synonym)|uniprotkb:RAS protein activator-like 2(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-359444(isoform-parent)|ensembl:ENSG00000075391(gene)|ensembl:ENST00000367649(transcript)|uniprotkb:Q9UJF2-2(isoform-parent) - - isoform-comment:No experimental confirmation available. figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:1LVDnqdhtKwyC95hzdDqCElcpk09606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P46531 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-636374|uniprotkb:Q59ED8|uniprotkb:Q5SXM3|intact:EBI-28989124|ensembl:ENSP00000498587 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:notc1_human(display_long)|uniprotkb:Translocation-associated notch protein TAN-1(gene name synonym)|uniprotkb:NOTCH1(gene name)|psi-mi:NOTCH1(display_short)|uniprotkb:TAN1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_060087.3|go:"GO:0006355"(regulation of transcription, DNA-templated)|go:"GO:0006955"(immune response)|go:"GO:0006959"(humoral immune response)|go:"GO:0007219"(Notch signaling pathway)|go:"GO:0007221"(positive regulation of transcription of Notch receptor target)|go:"GO:0005912"(adherens junction)|go:"GO:0007283"(spermatogenesis)|go:"GO:0007368"(determination of left/right symmetry)|go:"GO:0007386"(compartment pattern specification)|go:"GO:0007411"(axon guidance)|go:"GO:0007440"(foregut morphogenesis)|go:"GO:0007492"(endoderm development)|go:"GO:0007507"(heart development)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0009912"(auditory receptor cell fate commitment)|go:"GO:0009986"(cell surface)|go:"GO:0010614"(negative regulation of cardiac muscle hypertrophy)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0010812"(negative regulation of cell-substrate adhesion)|go:"GO:0010832"(negative regulation of myotube differentiation)|go:"GO:0014031"(mesenchymal cell development)|go:"GO:0014807"(regulation of somitogenesis)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0019899"(enzyme binding)|go:"GO:0021515"(cell differentiation in spinal cord)|go:"GO:0021915"(neural tube development)|go:"GO:0030216"(keratinocyte differentiation)|go:"GO:0030279"(negative regulation of ossification)|go:"GO:0030324"(lung development)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030513"(positive regulation of BMP signaling pathway)|go:"GO:0030514"(negative regulation of BMP signaling pathway)|go:"GO:0030900"(forebrain development)|go:"GO:0031069"(hair follicle morphogenesis)|go:"GO:0031100"(animal organ regeneration)|go:"GO:0031490"(chromatin DNA binding)|go:"GO:0031960"(response to corticosteroid)|go:"GO:0032495"(response to muramyl dipeptide)|go:"GO:0032496"(response to lipopolysaccharide)|go:"GO:0035116"(embryonic hindlimb morphogenesis)|go:"GO:0035148"(tube formation)|go:"GO:0035914"(skeletal muscle cell differentiation)|go:"GO:0035924"(cellular response to vascular endothelial growth factor stimulus)|go:"GO:0042246"(tissue regeneration)|go:"GO:0042802"(identical protein binding)|go:"GO:0043086"(negative regulation of catalytic activity)|go:"GO:0043235"(receptor complex)|go:"GO:0045070"(positive regulation of viral genome replication)|go:"GO:0045603"(positive regulation of endothelial cell differentiation)|go:"GO:0045608"(negative regulation of inner ear auditory receptor cell differentiation)|go:"GO:0045618"(positive regulation of keratinocyte differentiation)|go:"GO:0045662"(negative regulation of myoblast differentiation)|go:"GO:0045668"(negative regulation of osteoblast differentiation)|go:"GO:0045747"(positive regulation of Notch signaling pathway)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0045955"(negative regulation of calcium ion-dependent exocytosis)|go:"GO:0045967"(negative regulation of growth rate)|go:"GO:0046427"(positive regulation of receptor signaling pathway via JAK-STAT)|go:"GO:0046533"(negative regulation of photoreceptor cell differentiation)|go:"GO:0046579"(positive regulation of Ras protein signal transduction)|go:"GO:0048103"(somatic stem cell division)|go:"GO:0048708"(astrocyte differentiation)|go:"GO:0048709"(oligodendrocyte differentiation)|go:"GO:0048711"(positive regulation of astrocyte differentiation)|go:"GO:0048715"(negative regulation of oligodendrocyte differentiation)|go:"GO:0048754"(branching morphogenesis of an epithelial tube)|go:"GO:0048873"(homeostasis of number of cells within a tissue)|go:"GO:0050679"(positive regulation of epithelial cell proliferation)|go:"GO:0050768"(negative regulation of neurogenesis)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0055008"(cardiac muscle tissue morphogenesis)|go:"GO:0060045"(positive regulation of cardiac muscle cell proliferation)|go:"GO:0060253"(negative regulation of glial cell proliferation)|go:"GO:0060271"(cilium assembly)|go:"GO:0060317"(cardiac epithelial to mesenchymal transition)|go:"GO:0060354"(negative regulation of cell adhesion molecule production)|go:"GO:0060411"(cardiac septum morphogenesis)|go:"GO:0060412"(ventricular septum morphogenesis)|go:"GO:0060528"(secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development)|go:"GO:0060740"(prostate gland epithelium morphogenesis)|go:"GO:0060768"(regulation of epithelial cell proliferation involved in prostate gland development)|go:"GO:0060842"(arterial endothelial cell differentiation)|go:"GO:0060843"(venous endothelial cell differentiation)|go:"GO:0060948"(cardiac vascular smooth muscle cell development)|go:"GO:0060956"(endocardial cell differentiation)|go:"GO:0060979"(vasculogenesis involved in coronary vascular morphogenesis)|go:"GO:0060982"(coronary artery morphogenesis)|go:"GO:0061314"(Notch signaling involved in heart development)|go:"GO:0060038"(cardiac muscle cell proliferation)|go:"GO:0072144"(glomerular mesangial cell development)|go:"GO:0090051"(negative regulation of cell migration involved in sprouting angiogenesis)|go:"GO:0090090"(negative regulation of canonical Wnt signaling pathway)|go:"GO:0097150"(neuronal stem cell population maintenance)|go:"GO:0120163"(negative regulation of cold-induced thermogenesis)|go:"GO:0061384"(heart trabecula morphogenesis)|go:"GO:0061419"(positive regulation of transcription from RNA polymerase II promoter in response to hypoxia)|go:"GO:1901201"(regulation of extracellular matrix assembly)|go:"GO:0062043"(positive regulation of cardiac epithelial to mesenchymal transition)|go:"GO:0070168"(negative regulation of biomineral tissue development)|go:"GO:1902263"(apoptotic process involved in embryonic digit morphogenesis)|go:"GO:1902339"(positive regulation of apoptotic process involved in morphogenesis)|go:"GO:1903849"(positive regulation of aorta morphogenesis)|go:"GO:2000048"(negative regulation of cell-cell adhesion mediated by cadherin)|go:"GO:0070374"(positive regulation of ERK1 and ERK2 cascade)|go:"GO:2000737"(negative regulation of stem cell differentiation)|go:"GO:2000811"(negative regulation of anoikis)|go:"GO:2000974"(negative regulation of pro-B cell differentiation)|go:"GO:2001027"(negative regulation of endothelial cell chemotaxis)|interpro:IPR000152(Aspartic acid and asparagine hydroxylation site)|interpro:IPR000742(EGF-like, type 3)|interpro:IPR000800(Notch region)|go:"GO:0070986"(left/right axis specification)|interpro:IPR001881(EGF-like calcium-binding)|interpro:IPR002110(Ankyrin)|interpro:IPR008297(Notch)|interpro:IPR009030(Growth factor, receptor)|interpro:IPR010660(Notch, NOD region)|interpro:IPR011656(Notch, NODP region)|interpro:IPR013032(EGF-like region, conserved site)|interpro:IPR018097|interpro:IPR020683|interpro:IPR022362|interpro:IPR024600|go:"GO:0071372"(cellular response to follicle-stimulating hormone stimulus)|interpro:IPR035993|interpro:IPR036770|mint:P46531|rcsb pdb:1PB5|rcsb pdb:1TOZ|rcsb pdb:1YYH|rcsb pdb:2F8X|rcsb pdb:2F8Y|rcsb pdb:2HE0|go:"GO:0072017"(distal tubule development)|go:"GO:0072044"(collecting duct development)|rcsb pdb:2VJ3|rcsb pdb:3ETO|rcsb pdb:3I08|rcsb pdb:3L95|rcsb pdb:3NBN|rcsb pdb:3V79|rcsb pdb:4CUD|rcsb pdb:4CUE|rcsb pdb:4CUF|rcsb pdb:4D0E|rcsb pdb:4D0F|rcsb pdb:5FM9|rcsb pdb:5FMA|rcsb pdb:5KZO|rcsb pdb:5L0R|rcsb pdb:5UB5|rcsb pdb:6IDF|rcsb pdb:6PY8|reactome:R-HSA-1912399|reactome:R-HSA-1912408|reactome:R-HSA-1912420|reactome:R-HSA-210744|reactome:R-HSA-2122947|reactome:R-HSA-2122948|reactome:R-HSA-2644606|reactome:R-HSA-2644607|reactome:R-HSA-2660826|reactome:R-HSA-2691232|reactome:R-HSA-2894862|reactome:R-HSA-350054|reactome:R-HSA-5083630|reactome:R-HSA-8941856|reactome:R-HSA-9013508|reactome:R-HSA-9013695|ensembl:ENSG00000148400(gene)|ensembl:ENST00000651671(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000139"(Golgi membrane)|go:"GO:0001669"(acrosomal vesicle)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0001708"(cell fate specification)|go:"GO:0001837"(epithelial to mesenchymal transition)|go:"GO:0001889"(liver development)|go:"GO:0001947"(heart looping)|go:"GO:0002040"(sprouting angiogenesis)|go:"GO:0002052"(positive regulation of neuroblast proliferation)|go:"GO:0002193"(MAML1-RBP-Jkappa- ICN1 complex)|go:"GO:0002437"(inflammatory response to antigenic stimulus)|go:"GO:0003151"(outflow tract morphogenesis)|go:"GO:0003157"(endocardium development)|go:"GO:0003160"(endocardium morphogenesis)|go:"GO:0003162"(atrioventricular node development)|go:"GO:0003169"(coronary vein morphogenesis)|go:"GO:0003180"(aortic valve morphogenesis)|go:"GO:0003181"(atrioventricular valve morphogenesis)|go:"GO:0003182"(coronary sinus valve morphogenesis)|go:"GO:0003184"(pulmonary valve morphogenesis)|go:"GO:0003192"(mitral valve formation)|go:"GO:0003198"(epithelial to mesenchymal transition involved in endocardial cushion formation)|go:"GO:0003203"(endocardial cushion morphogenesis)|go:"GO:0003207"(cardiac chamber formation)|go:"GO:0003208"(cardiac ventricle morphogenesis)|go:"GO:0003209"(cardiac atrium morphogenesis)|go:"GO:0003213"(cardiac right atrium morphogenesis)|go:"GO:0003214"(cardiac left ventricle morphogenesis)|go:"GO:0003219"(cardiac right ventricle formation)|go:"GO:0003222"(ventricular trabecula myocardium morphogenesis)|go:"GO:0003241"(growth involved in heart morphogenesis)|go:"GO:0003252"(negative regulation of cell proliferation involved in heart valve morphogenesis)|go:"GO:0003256"(regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation)|go:"GO:0003270"(Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation)|go:"GO:0003273"(cell migration involved in endocardial cushion formation)|go:"GO:0003332"(negative regulation of extracellular matrix constituent secretion)|go:"GO:0003344"(pericardium morphogenesis)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0004857"(enzyme inhibitor activity)|go:"GO:0004888"(transmembrane signaling receptor activity)|go:"GO:0005112"(Notch binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|dip:DIP-29919N|ensembl:ENSP00000498587 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:yRAjMjynnyZ7ANlk2eulodpS4P09606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O14910 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-2513988|ensembl:ENSP00000447488|uniprotkb:Q147W1|uniprotkb:Q6LES3|uniprotkb:A4FTY3|uniprotkb:Q7LDS4 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:lin7a_human(display_long)|uniprotkb:LIN7A(gene name)|psi-mi:LIN7A(display_short)|uniprotkb:MALS1(gene name synonym)|uniprotkb:VELI1(gene name synonym)|uniprotkb:Mammalian lin-seven protein 1(gene name synonym)|uniprotkb:Vertebrate lin-7 homolog 1(gene name synonym)|uniprotkb:Tax interaction protein 33(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000111052(gene)|ensembl:ENST00000552864(transcript)|go:"GO:0005886"(plasma membrane)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005923"(bicellular tight junction)|go:"GO:0006887"(exocytosis)|go:"GO:0007269"(neurotransmitter secretion)|go:"GO:0015031"(protein transport)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0045199"(maintenance of epithelial cell apical/basal polarity)|go:"GO:0045202"(synapse)|go:"GO:0048489"(synaptic vesicle transport)|go:"GO:0048839"(inner ear development)|go:"GO:0065003"(protein-containing complex assembly)|go:"GO:0070062"(extracellular exosome)|go:"GO:0097016"(L27 domain binding)|go:"GO:0097025"(MPP7-DLG1-LIN7 complex)|go:"GO:0098793"(presynapse)|go:"GO:0098839"(postsynaptic density membrane)|go:"GO:1903361"(protein localization to basolateral plasma membrane)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR004172(L27)|interpro:IPR014775(L27, C-terminal)|interpro:IPR017365(Lin-7 homologue)|interpro:IPR036034|interpro:IPR036892|mint:O14910|reactome:R-HSA-212676|reactome:R-HSA-6794361|reactome:R-HSA-9609736|refseq:NP_004655.1 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:Gjtcmp87UCSpimmQfPflbYgJlQc9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9NUP9 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-1171517|ensembl:ENSP00000278193 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:lin7c_human(display_long)|uniprotkb:Mammalian lin-seven protein 3(gene name synonym)|uniprotkb:Vertebrate lin-7 homolog 3(gene name synonym)|uniprotkb:LIN7C(gene name)|psi-mi:LIN7C(display_short)|uniprotkb:MALS3(gene name synonym)|uniprotkb:VELI3(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_060832.1|ensembl:ENSG00000148943(gene)|ensembl:ENST00000278193(transcript)|go:"GO:0002011"(morphogenesis of an epithelial sheet)|go:"GO:0005737"(cytoplasm)|go:"GO:0005886"(plasma membrane)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005923"(bicellular tight junction)|go:"GO:0006887"(exocytosis)|go:"GO:0007269"(neurotransmitter secretion)|go:"GO:0008092"(cytoskeletal protein binding)|go:"GO:0015031"(protein transport)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0030165"(PDZ domain binding)|go:"GO:0045199"(maintenance of epithelial cell apical/basal polarity)|go:"GO:0045202"(synapse)|go:"GO:0097016"(L27 domain binding)|go:"GO:0097025"(MPP7-DLG1-LIN7 complex)|go:"GO:0098793"(presynapse)|go:"GO:0098839"(postsynaptic density membrane)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:1903361"(protein localization to basolateral plasma membrane)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR004172(L27)|interpro:IPR014775(L27, C-terminal)|interpro:IPR017365(Lin-7 homologue)|interpro:IPR036034|interpro:IPR036892|mint:Q9NUP9|rcsb pdb:3LRA|reactome:R-HSA-212676|reactome:R-HSA-6794361|reactome:R-HSA-9609736 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:F2rasaJ64Olc9qScN79LJRqsUEE9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9Y4J8-14 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-25646586|ensembl:ENSP00000382072 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q9y4j8-14(display_long)|uniprotkb:DTNA(gene name)|psi-mi:DTNA(display_short)|uniprotkb:DRP3(gene name synonym)|uniprotkb:Alpha-dystrobrevin(gene name synonym)|uniprotkb:Dystrophin-related protein 3(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000134769(gene)|ensembl:ENST00000399121(transcript)|intact:EBI-949471(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:laITRffSOB2VDNxBE2Mb+LQ1m2E9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O94887-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-25408805 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:o948871(display_long)|uniprotkb:FARP2(gene name)|psi-mi:FARP2(display_short)|uniprotkb:KIAA0793(gene name synonym)|uniprotkb:PLEKHC3(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:O94887-1(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:n/4XGmfZHwKJ3HjkCCAejaF4yfg9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O75054-2 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-16813207 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:o750542(display_long)|uniprotkb:IGSF3(gene name)|psi-mi:IGSF3(display_short)|uniprotkb:EWI3(gene name synonym)|uniprotkb:KIAA0466(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:O75054-2(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:dVwIb3OwEjWs9hn56o5SObWpqy09606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:C9JH25-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27067771 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:c9jh25-1(display_long)|uniprotkb:PRRT4(gene name)|psi-mi:PRRT4(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:C9JH25-1(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:+1VMHJaCkrPkP7IUMDEJdcPMAPY9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9P0K1-2 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-28956188 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q9p0k1-2(display_long)|uniprotkb:ADAM22(gene name)|psi-mi:ADAM22(display_short)|uniprotkb:MDC2(gene name synonym)|uniprotkb:Delta(isoform synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-1567236(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:8W5YAZSIgEf7MpsU1rczPju8O0w9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9ULI4 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-1642152|uniprotkb:Q8TAZ7|uniprotkb:Q9UFL3|uniprotkb:Q96GK3|ensembl:ENSP00000388241 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:ki26a_human(display_long)|uniprotkb:KIF26A(gene name)|psi-mi:KIF26A(display_short)|uniprotkb:KIAA1236(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_056471.1|ensembl:ENSP00000388241|ensembl:ENSG00000066735(gene)|ensembl:ENST00000423312(transcript)|go:"GO:0001560"(regulation of cell growth by extracellular stimulus)|go:"GO:0003777"(microtubule motor activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005829"(cytosol)|go:"GO:0005871"(kinesin complex)|go:"GO:0005874"(microtubule)|go:"GO:0008017"(microtubule binding)|go:"GO:0009968"(negative regulation of signal transduction)|go:"GO:0048484"(enteric nervous system development)|interpro:IPR001752(Kinesin, motor region)|interpro:IPR027417|interpro:IPR027640|interpro:IPR036961|reactome:R-HSA-2132295|reactome:R-HSA-6811434|reactome:R-HSA-983189 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:rGOWX3QnXCCRJ0EUsGxRUTsQoe09606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9BYG5 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-295391|uniprotkb:Q9Y510|uniprotkb:A2A2A7|ensembl:ENSP00000360672 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:par6b_human(display_long)|uniprotkb:PARD6B(gene name)|psi-mi:PARD6B(display_short)|uniprotkb:PAR6B(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_115910.1|ensembl:ENSG00000124171(gene)|ensembl:ENST00000371610(transcript)|go:"GO:0005080"(protein kinase C binding)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005923"(bicellular tight junction)|go:"GO:0005938"(cell cortex)|go:"GO:0007043"(cell-cell junction assembly)|go:"GO:0007098"(centrosome cycle)|go:"GO:0007163"(establishment or maintenance of cell polarity)|go:"GO:0007409"(axonogenesis)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0030334"(regulation of cell migration)|go:"GO:0032991"(protein-containing complex)|go:"GO:0051301"(cell division)|go:"GO:0060341"(regulation of cellular localization)|go:"GO:0065003"(protein-containing complex assembly)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000270(Octicosapeptide/Phox/Bem1p)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR034868|interpro:IPR034873|interpro:IPR036034|reactome:R-HSA-420029 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:g0xlQJsc0iRnYSBnMa3g7nxUZAg9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q15768 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-3908475|uniprotkb:Q92875|uniprotkb:Q8TBH7|uniprotkb:D3DTQ6|uniprotkb:B2RBW2|uniprotkb:O00680|ensembl:ENSP00000226091 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:efnb3_human(display_long)|uniprotkb:EFNB3(gene name)|psi-mi:EFNB3(display_short)|uniprotkb:EPLG8(gene name synonym)|uniprotkb:LERK8(gene name synonym)|uniprotkb:EPH-related receptor transmembrane ligand ELK-L3(gene name synonym)|uniprotkb:EPH-related receptor tyrosine kinase ligand 8(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001397.1|ensembl:ENSG00000108947(gene)|ensembl:ENST00000226091(transcript)|go:"GO:0001618"(virus receptor activity)|go:"GO:0005005"(transmembrane-ephrin receptor activity)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0007267"(cell-cell signaling)|go:"GO:0007399"(nervous system development)|go:"GO:0007411"(axon guidance)|go:"GO:0007628"(adult walking behavior)|go:"GO:0016198"(axon choice point recognition)|go:"GO:0031295"(T cell costimulation)|go:"GO:0046875"(ephrin receptor binding)|go:"GO:0048013"(ephrin receptor signaling pathway)|go:"GO:0050771"(negative regulation of axonogenesis)|go:"GO:0098686"(hippocampal mossy fiber to CA3 synapse)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099056"(integral component of presynaptic membrane)|go:"GO:0099061"(integral component of postsynaptic density membrane)|go:"GO:0099557"(trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmission)|interpro:IPR001799(Ephrin)|interpro:IPR008972(Cupredoxin)|interpro:IPR019765|interpro:IPR031328|mint:Q15768|rcsb pdb:4BKF|reactome:R-HSA-2682334|reactome:R-HSA-3928662|reactome:R-HSA-3928664|reactome:R-HSA-3928665|dip:DIP-59196N - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:SCKHF/6JfjSaED+FsgWMp2o4aDI9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q96DR7 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-4402573|uniprotkb:Q68CL1|uniprotkb:Q6AZ96|uniprotkb:Q9H9R2|uniprotkb:Q6Q8Q8|uniprotkb:Q96AW8|uniprotkb:Q96DR6|uniprotkb:Q9H9D7|uniprotkb:Q9UFW5|uniprotkb:B3KVP8|uniprotkb:E9PBD0|ensembl:ENSP00000348828|ensembl:ENSP00000423418|ensembl:ENSP00000481927|ensembl:ENSP00000484367 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:arhgq_human(display_long)|uniprotkb:ARHGEF26(gene name)|psi-mi:ARHGEF26(display_short)|uniprotkb:SGEF(gene name synonym)|uniprotkb:SH3 domain-containing guanine exchange factor(gene name synonym)|uniprotkb:HMFN1864(orf name) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_056410.3|refseq:NP_001238891.1|refseq:NP_001238892.1|ensembl:ENSG00000114790(gene)|ensembl:ENSG00000277101(gene)|go:"GO:0097178"(ruffle assembly)|ensembl:ENST00000356448(transcript)|ensembl:ENST00000465093(transcript)|ensembl:ENST00000614308(transcript)|ensembl:ENST00000618535(transcript)|interpro:IPR000219("Dbl homology (DH) domain")|go:"GO:0001726"(ruffle)|go:"GO:0001886"(endothelial cell morphogenesis)|interpro:IPR001452(Src homology-3)|interpro:IPR001849(Pleckstrin-like)|interpro:IPR011993(Pleckstrin homology-type)|go:"GO:0005085"(guanyl-nucleotide exchange factor activity)|go:"GO:0005829"(cytosol)|go:"GO:0090630"(activation of GTPase activity)|interpro:IPR035797|interpro:IPR035899|interpro:IPR036028|rcsb pdb:6MYE|reactome:R-HSA-193648|reactome:R-HSA-416482|reactome:R-HSA-9013148|reactome:R-HSA-9013408 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:ZyCd3KE3VzR/ZBbIdT17YnldfyY9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9NZW5 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-2683764|uniprotkb:A4D157|uniprotkb:Q9H0E1|ensembl:ENSP00000222644|ensembl:ENSP00000379737 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:pals2_human(display_long)|uniprotkb:PALS2(gene name)|psi-mi:PALS2(display_short)|uniprotkb:MAGUK p55 subfamily member 6(gene name synonym)|uniprotkb:MPP6(gene name synonym)|uniprotkb:Membrane protein, palmitoylated 6(gene name synonym)|uniprotkb:VAM1(gene name synonym)|uniprotkb:Veli-associated MAGUK 1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:XP_011513727.1|refseq:NP_057531.2|ensembl:ENSG00000105926(gene)|ensembl:ENST00000222644(transcript)|ensembl:ENST00000396475(transcript)|go:"GO:0005886"(plasma membrane)|go:"GO:0016020"(membrane)|go:"GO:0065003"(protein-containing complex assembly)|go:"GO:0070062"(extracellular exosome)|interpro:IPR001452(Src homology-3)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR004172(L27)|interpro:IPR008144(Guanylate kinase)|interpro:IPR008145(Guanylate kinase/L-type calcium channel region)|interpro:IPR014775(L27, C-terminal)|interpro:IPR020590|interpro:IPR027417|interpro:IPR035603|interpro:IPR036028|interpro:IPR036034|interpro:IPR036892|refseq:NP_001289966.1|refseq:XP_006715801.1|refseq:XP_006715802.1|refseq:XP_006715803.1|refseq:XP_016867804.1|refseq:XP_016867805.1|refseq:XP_016867806.1 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:ItBNF/o8Gi2pOxQiLJckjcK6qFQ9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9Y6N7-2 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-21566757 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q9y6n7-2(display_long)|uniprotkb:ROBO1(gene name)|psi-mi:ROBO1(display_short)|uniprotkb:DUTT1(gene name synonym)|uniprotkb:Deleted in U twenty twenty(gene name synonym)|uniprotkb:H-Robo-1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:Q9Y6N7-2(isoform-parent)|intact:EBI-399762(isoform-parent) - - isoform-comment:Incomplete. figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:hoZOYBTGu0JAMfrd4zFVQxS6eok9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q8TBZ3-7 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-28956183 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q8tbz3-7(display_long)|uniprotkb:WDR20(gene name)|psi-mi:WDR20(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-2511486(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:jcj2gQ/RcqwSUPiSVASxPG75xzU9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q2KJY2-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-28956176 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q2kjy2-1(display_long)|uniprotkb:KIF26B(gene name)|psi-mi:KIF26B(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:Q2KJY2-1(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:jlj2xlhNia7+2czslsU3K7P3NLU9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O43301 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-296980|ensembl:ENSP00000358211 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:hs12a_human(display_long)|uniprotkb:HSPA12A(gene name)|psi-mi:HSPA12A(display_short)|uniprotkb:KIAA0417(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000165868(gene)|ensembl:ENST00000369209(transcript)|go:"GO:0005524"(ATP binding)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0070062"(extracellular exosome)|interpro:IPR026685|interpro:IPR043129|reactome:R-HSA-3371453|refseq:NP_079291.2 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:6Jk4+yFCBrWVMIp9/XxvdKnCkGg9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q5VT25-6 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-28956169 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q5vt25-6(display_long)|uniprotkb:CDC42BPA(gene name)|psi-mi:CDC42BPA(display_short)|uniprotkb:KIAA0451(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-689171(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:FzFYt/nlwNyr0UAab8u/kJNopSM9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9NZU0 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-1057092|uniprotkb:Q96K39|uniprotkb:Q96K42|uniprotkb:Q96KB1|uniprotkb:Q9P259|uniprotkb:Q542Z9|uniprotkb:D3DW20|ensembl:ENSP00000339912|ensembl:ENSP00000367292 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:flrt3_human(display_long)|uniprotkb:FLRT3(gene name)|psi-mi:FLRT3(display_short)|uniprotkb:KIAA1469(gene name synonym)|uniprotkb:UNQ856/PRO1865(orf name)|uniprotkb:Fibronectin-like domain-containing leucine-rich transmembrane protein 3(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:XP_011527506.1|refseq:XP_011527507.1|refseq:NP_037413.1|refseq:NP_938205.1|refseq:XP_005260739.1|ensembl:ENSG00000125848(gene)|ensembl:ENST00000341420(transcript)|ensembl:ENST00000378053(transcript)|go:"GO:0003345"(proepicardium cell migration involved in pericardium morphogenesis)|go:"GO:0005104"(fibroblast growth factor receptor binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0007411"(axon guidance)|go:"GO:0007416"(synapse assembly)|go:"GO:0007507"(heart development)|go:"GO:0008543"(fibroblast growth factor receptor signaling pathway)|go:"GO:0030054"(cell junction)|go:"GO:0030674"(protein-macromolecule adaptor activity)|go:"GO:0031012"(extracellular matrix)|go:"GO:0031175"(neuron projection development)|go:"GO:0032584"(growth cone membrane)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043679"(axon terminus)|go:"GO:0044295"(axonal growth cone)|go:"GO:0045499"(chemorepellent activity)|go:"GO:0048598"(embryonic morphogenesis)|go:"GO:0048678"(response to axon injury)|go:"GO:0051965"(positive regulation of synapse assembly)|go:"GO:0060322"(head development)|go:"GO:0097060"(synaptic membrane)|go:"GO:0098742"(cell-cell adhesion via plasma-membrane adhesion molecules)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099055"(integral component of postsynaptic membrane)|go:"GO:0099560"(synaptic membrane adhesion)|go:"GO:1990138"(neuron projection extension)|interpro:IPR000372(Leucine-rich repeat, cysteine-rich flanking region, N-terminal)|interpro:IPR000483(Cysteine-rich flanking region, C-terminal)|interpro:IPR001611(Leucine-rich repeat)|interpro:IPR003591(Leucine-rich repeat, typical subtype)|interpro:IPR003961(Fibronectin, type III)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR032675|interpro:IPR036116|rcsb pdb:5CMN|rcsb pdb:5CMP|rcsb pdb:6JBU|reactome:R-HSA-376176|reactome:R-HSA-5654687|dip:DIP-50407N - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:9lRMRN7fMySPLxHExhs6xSXE8E49606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q6R327-3 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-10966844|ensembl:ENSP00000296782 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q6r327-3(display_long)|uniprotkb:RICTOR(gene name)|psi-mi:RICTOR(display_short)|uniprotkb:AVO3 homolog(gene name synonym)|uniprotkb:KIAA1999(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-1387196(isoform-parent)|uniprotkb:Q6R327-3(isoform-parent)|ensembl:ENSG00000164327(gene)|ensembl:ENST00000296782(transcript) - - isoform-comment:No experimental confirmation available. figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:555a/vbFaP+D7EbIgD87Q2jtMxM9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9Y2H0 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-722139|uniprotkb:Q5QPG4|uniprotkb:Q5T2Y4|uniprotkb:Q5T2Y5|uniprotkb:Q9H137|uniprotkb:Q9H138|uniprotkb:Q9H1L7|uniprotkb:E1P5T5|ensembl:ENSP00000341633|ensembl:ENSP00000363014 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:dlgp4_human(display_long)|uniprotkb:SAPAP4(gene name synonym)|uniprotkb:SAP90/PSD-95-associated protein 4(gene name synonym)|uniprotkb:PSD-95/SAP90-binding protein 4(gene name synonym)|uniprotkb:DLGAP4(gene name)|psi-mi:DLGAP4(display_short)|uniprotkb:DAP4(gene name synonym)|uniprotkb:KIAA0964(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001035951.1|refseq:NP_055717.2|refseq:NP_892118.1|refseq:XP_011526990.1|ensembl:ENSG00000080845(gene)|ensembl:ENST00000339266(transcript)|ensembl:ENST00000373907(transcript)|go:"GO:0005886"(plasma membrane)|go:"GO:0023052"(signaling)|go:"GO:0031594"(neuromuscular junction)|go:"GO:0060090"(molecular adaptor activity)|go:"GO:0098962"(regulation of postsynaptic neurotransmitter receptor activity)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098981"(cholinergic synapse)|go:"GO:0099572"(postsynaptic specialization)|interpro:IPR005026(Guanylate-kinase-associated protein)|interpro:IPR030527|mint:Q9Y2H0|reactome:R-HSA-6794361 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:i9/U52HQi00xnRUtJN0VZ0oXXwY9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q6IQ23-2 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-12069346 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q6iq23-2(display_long)|uniprotkb:PLEKHA7(gene name)|psi-mi:PLEKHA7(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-2125301(isoform-parent)|uniprotkb:Q6IQ23-2(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:nHdphjWga4X0iFvUZ/Tn0sIkFdI9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9HCK4-3 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-28956162 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q9hck4-3(display_long)|uniprotkb:ROBO2(gene name)|psi-mi:ROBO2(display_short)|uniprotkb:KIAA1568(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:Q9HCK4-3(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:xIAB5l/cxTlWmMbnbPPHUrKc3V49606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q13425-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-289693|ensembl:ENSP00000338191 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q13425-1(display_long)|uniprotkb:SNTB2(gene name)|psi-mi:SNTB2(display_short)|uniprotkb:D16S2531E(gene name synonym)|uniprotkb:SNT2B2(gene name synonym)|uniprotkb:SNTL(gene name synonym)|uniprotkb:59 kDa dystrophin-associated protein A1 basic component 2(gene name synonym)|uniprotkb:Syntrophin-3(gene name synonym)|uniprotkb:Syntrophin-like(gene name synonym)|uniprotkb:Beta2-syntrophin58(isoform synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000168807(gene)|ensembl:ENST00000336278(transcript)|intact:EBI-80411(sntb2_human) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:SABgmvArdLH93OpFobs/L3BleVY9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9H0X4 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-1389842|uniprotkb:Q7L416|uniprotkb:Q96FR1|uniprotkb:Q96MC7|uniprotkb:Q96S30|uniprotkb:D3DU45|ensembl:ENSP00000301678|ensembl:ENSP00000382814 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:f234a_human(display_long)|uniprotkb:FAM234A(gene name)|psi-mi:FAM234A(display_short)|uniprotkb:C16orf9(gene name synonym)|uniprotkb:ITFG3(gene name synonym)|uniprotkb:Protein ITFG3(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001271426.1|refseq:NP_114428.1|refseq:XP_016879249.1|refseq:XP_016879250.1|refseq:XP_016879251.1|refseq:XP_011520993.1|refseq:XP_011520994.1|refseq:XP_005255679.1|ensembl:ENSG00000167930(gene)|ensembl:ENST00000301678(transcript)|ensembl:ENST00000399932(transcript)|go:"GO:0009986"(cell surface)|go:"GO:0016021"(integral component of membrane)|go:"GO:0070062"(extracellular exosome)|interpro:IPR011047(Quinonprotein alcohol dehydrogenase-like)|mint:Q9H0X4 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:nmh0mT6DweQQVTH0zgscPL5NXRk9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P13612 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-703044|ensembl:ENSP00000380227|uniprotkb:D3DPG4|uniprotkb:Q7Z4L6 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:ita4_human(display_long)|uniprotkb:Integrin alpha-IV(gene name synonym)|uniprotkb:VLA-4 subunit alpha(gene name synonym)|uniprotkb:CD49 antigen-like family member D(gene name synonym)|uniprotkb:ITGA4(gene name)|psi-mi:ITGA4(display_short)|uniprotkb:CD49D(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 go:"GO:0033631"(cell-cell adhesion mediated by integrin)|ensembl:ENSG00000115232(gene)|ensembl:ENST00000397033(transcript)|go:"GO:0001968"(fibronectin binding)|go:"GO:0003366"(cell-matrix adhesion involved in ameboidal cell migration)|go:"GO:0005178"(integrin binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0007159"(leukocyte cell-cell adhesion)|go:"GO:0007160"(cell-matrix adhesion)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0009986"(cell surface)|go:"GO:0015026"(coreceptor activity)|go:"GO:0016020"(membrane)|go:"GO:0030183"(B cell differentiation)|go:"GO:0030426"(growth cone)|go:"GO:0034113"(heterotypic cell-cell adhesion)|go:"GO:0034446"(substrate adhesion-dependent cell spreading)|go:"GO:0034668"(integrin alpha4-beta1 complex)|go:"GO:0034669"(integrin alpha4-beta7 complex)|go:"GO:0035987"(endodermal cell differentiation)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043113"(receptor clustering)|go:"GO:0046872"(metal ion binding)|go:"GO:0050839"(cell adhesion molecule binding)|go:"GO:0050901"(leukocyte tethering or rolling)|go:"GO:0050904"(diapedesis)|go:"GO:0060385"(axonogenesis involved in innervation)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071345"(cellular response to cytokine stimulus)|interpro:IPR032695|go:"GO:0090074"(negative regulation of protein homodimerization activity)|go:"GO:0098657"(import into cell)|go:"GO:0140039"(cell-cell adhesion in response to extracellular stimulus)|go:"GO:1903238"(positive regulation of leukocyte tethering or rolling)|rcsb pdb:3V4P|go:"GO:1904646"(cellular response to amyloid-beta)|go:"GO:1905564"(positive regulation of vascular endothelial cell proliferation)|go:"GO:1990138"(neuron projection extension)|go:"GO:1990405"(protein antigen binding)|go:"GO:1990771"(clathrin-dependent extracellular exosome endocytosis)|go:"GO:2000353"(positive regulation of endothelial cell apoptotic process)|go:"GO:2000406"(positive regulation of T cell migration)|interpro:IPR000413(Integrins alpha chain)|interpro:IPR013517(FG-GAP)|interpro:IPR013519(Integrin alpha beta-propellor)|interpro:IPR013649(Integrin alpha-2)|interpro:IPR018184|interpro:IPR028994|rcsb pdb:3V4V|rcsb pdb:4HKC|rcsb pdb:5C7Z|rcsb pdb:5FPI|reactome:R-HSA-198933|reactome:R-HSA-202733|reactome:R-HSA-216083|reactome:R-HSA-8949275|reactome:R-HSA-9679191|refseq:NP_000876.3|refseq:NP_001303241.1|dip:DIP-34971N - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:+eJ+J7eQCKRUc/uMuaI56AmygAQ9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q86W92-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-28956155 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q86w92-1(display_long)|uniprotkb:PPFIBP1(gene name)|psi-mi:PPFIBP1(display_short)|uniprotkb:KIAA1230(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-1045582(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:PIoFJHaX4lvBJ0EYcascPgJP8bI9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9NYI0-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-28956145 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q9nyi0-1(display_long)|uniprotkb:PSD3(gene name)|psi-mi:PSD3(display_short)|uniprotkb:EFA6D(gene name synonym)|uniprotkb:EFA6R(gene name synonym)|uniprotkb:HCA67(gene name synonym)|uniprotkb:KIAA0942(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:Q9NYI0-1(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:wu9g5GmiJva6VGDtz8duECqvI3w9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9P273 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-2690164|uniprotkb:Q96SY2|uniprotkb:Q9NZJ2|uniprotkb:Q9NVW1|uniprotkb:Q9NV77|uniprotkb:Q5XUL9|ensembl:ENSP00000424226 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:ten3_human(display_long)|uniprotkb:TENM3(gene name)|psi-mi:TENM3(display_short)|uniprotkb:KIAA1455(gene name synonym)|uniprotkb:ODZ3(gene name synonym)|uniprotkb:Protein Odd Oz/ten-m homolog 3(gene name synonym)|uniprotkb:TNM3(gene name synonym)|uniprotkb:Tenascin-M3(gene name synonym)|uniprotkb:Teneurin transmembrane protein 3(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001073946.1|ensembl:ENSG00000218336(gene)|ensembl:ENST00000511685(transcript)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0007156"(homophilic cell adhesion via plasma membrane adhesion molecules)|go:"GO:0007157"(heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules)|go:"GO:0007165"(signal transduction)|go:"GO:0010976"(positive regulation of neuron projection development)|go:"GO:0016020"(membrane)|go:"GO:0030424"(axon)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043005"(neuron projection)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0048593"(camera-type eye morphogenesis)|go:"GO:0048666"(neuron development)|go:"GO:0050839"(cell adhesion molecule binding)|go:"GO:1903385"(regulation of homophilic cell adhesion)|interpro:IPR000742(EGF-like, type 3)|interpro:IPR006530(YD repeat)|interpro:IPR008969(Carboxypeptidase-like, regulatory region)|interpro:IPR009471(Teneurin intracellular, N-terminal)|interpro:IPR011042(Six-bladed beta-propeller, TolB-like)|interpro:IPR022385|interpro:IPR027691|interpro:IPR028916|interpro:IPR036322|refseq:XP_016863882.1 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:T4Ex0H/OmcOImLwf8xZD205okUo9606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P46939 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-295856|intact:EBI-784141|uniprotkb:Q5SZ57|uniprotkb:Q5SYY1|uniprotkb:Q9UJ40|ensembl:ENSP00000356515 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:utrn_human(display_long)|uniprotkb:UTRN(gene name)|psi-mi:UTRN(display_short)|uniprotkb:DMDL(gene name synonym)|uniprotkb:Dystrophin-related protein 1(gene name synonym)|uniprotkb:DRP1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956128|imex:IM-29166-4 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSP00000356515|refseq:XP_011534408.1|refseq:NP_009055.2|refseq:XP_005267187.1|dip:DIP-711N|ensembl:ENSG00000152818(gene)|ensembl:ENST00000367545(transcript)|go:"GO:0001954"(positive regulation of cell-matrix adhesion)|go:"GO:0003779"(actin binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0006936"(muscle contraction)|go:"GO:0007517"(muscle organ development)|go:"GO:0008270"(zinc ion binding)|go:"GO:0016010"(dystrophin-associated glycoprotein complex)|go:"GO:0016020"(membrane)|go:"GO:0017166"(vinculin binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030175"(filopodium)|go:"GO:0031527"(filopodium membrane)|go:"GO:0031594"(neuromuscular junction)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042383"(sarcolemma)|go:"GO:0045211"(postsynaptic membrane)|go:"GO:0070062"(extracellular exosome)|go:"GO:2000649"(regulation of sodium ion transmembrane transporter activity)|interpro:IPR000433(Zinc finger, ZZ-type)|interpro:IPR001202(WW/Rsp5/WWP)|interpro:IPR001589(Actinin-type, actin-binding, conserved site)|interpro:IPR001715(Calponin-like actin-binding)|interpro:IPR002017(Spectrin repeat)|interpro:IPR011992(EF-Hand type)|interpro:IPR015153(EF-hand, region 1)|interpro:IPR015154(EF-hand, region 2)|interpro:IPR018159|interpro:IPR035436|interpro:IPR036020|interpro:IPR036872|interpro:IPR043145|mint:P46939|rcsb pdb:1BHD|rcsb pdb:1QAG|rcsb pdb:6M5G|reactome:R-HSA-9619665 - - - figure legend:Supplementary Table 3|comment:Wild-type KCNJ2 - preferred interactors|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:metWqbqGtzonNZ1mgNjlFrenuI89606 rigid:YPQmrCGcPoxMqyKVjxbfCswTfB4 false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q92692-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-7581065|intact:MINT-90970|ensembl:ENSP00000252483 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q92692-1(display_long)|uniprotkb:NECTIN2(gene name)|psi-mi:NECTIN2(display_short)|uniprotkb:HVEB(gene name synonym)|uniprotkb:Herpes virus entry mediator B(gene name synonym)|uniprotkb:Nectin cell adhesion molecule 2(gene name synonym)|uniprotkb:PRR2(gene name synonym)|uniprotkb:PVRL2(gene name synonym)|uniprotkb:Poliovirus receptor-related protein 2(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-718419(isoform-parent)|ensembl:ENSG00000130202(gene)|ensembl:ENST00000252483(transcript) - - comment:mint figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:xGLJch8JXc+urj11GXKFPgBLYuc9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P52799 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-7532268|intact:MINT-3019741|uniprotkb:Q5JV56|ensembl:ENSP00000493716 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:efnb2_human(display_long)|uniprotkb:EFNB2(gene name)|psi-mi:EFNB2(display_short)|uniprotkb:EPLG5(gene name synonym)|uniprotkb:HTKL(gene name synonym)|uniprotkb:LERK5(gene name synonym)|uniprotkb:EPH-related receptor tyrosine kinase ligand 5(gene name synonym)|uniprotkb:HTK ligand(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_004084.1|ensembl:ENSG00000125266(gene)|ensembl:ENST00000646441(transcript)|go:"GO:0001618"(virus receptor activity)|go:"GO:0002042"(cell migration involved in sprouting angiogenesis)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0007155"(cell adhesion)|go:"GO:0007267"(cell-cell signaling)|go:"GO:0007411"(axon guidance)|go:"GO:0008284"(positive regulation of cell population proliferation)|go:"GO:0009653"(anatomical structure morphogenesis)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0046875"(ephrin receptor binding)|go:"GO:0048013"(ephrin receptor signaling pathway)|go:"GO:0048514"(blood vessel morphogenesis)|go:"GO:0050920"(regulation of chemotaxis)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099054"(presynapse assembly)|go:"GO:0099056"(integral component of presynaptic membrane)|go:"GO:1901216"(positive regulation of neuron death)|go:"GO:2000727"(positive regulation of cardiac muscle cell differentiation)|interpro:IPR001799(Ephrin)|interpro:IPR008972(Cupredoxin)|interpro:IPR019765|interpro:IPR031328|interpro:IPR034255|mint:P52799|rcsb pdb:2HLE|rcsb pdb:2I85|rcsb pdb:2VSK|rcsb pdb:2VSM|rcsb pdb:2WO2|rcsb pdb:3GXU|rcsb pdb:4UF7|rcsb pdb:6P7Y|rcsb pdb:6PDL|reactome:R-HSA-2682334|reactome:R-HSA-3928662|reactome:R-HSA-3928664|reactome:R-HSA-3928665|dip:DIP-46378N - - comment:mint|function:Binds to the receptor tyrosine kinases EPHB4 and EPHA3. May play a role in constraining the orientation of longitudinally projecting axons figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:Ie9xTJNgMD4VdbCiT9rJf1XCgqE9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q01974 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-6422642|ensembl:ENSP00000364860|uniprotkb:Q59GF5|uniprotkb:Q9HB61|uniprotkb:Q9HAY7|uniprotkb:Q5SPI5 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:ror2_human(display_long)|uniprotkb:NTRKR2(gene name synonym)|uniprotkb:Neurotrophic tyrosine kinase, receptor-related 2(gene name synonym)|uniprotkb:ROR2(gene name)|psi-mi:ROR2(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000169071(gene)|ensembl:ENST00000375708(transcript)|go:"GO:0001502"(cartilage condensation)|go:"GO:0001756"(somitogenesis)|go:"GO:0004714"(transmembrane receptor protein tyrosine kinase activity)|go:"GO:0005109"(frizzled binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005874"(microtubule)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0007165"(signal transduction)|go:"GO:0007169"(transmembrane receptor protein tyrosine kinase signaling pathway)|go:"GO:0007223"(Wnt signaling pathway, calcium modulating pathway)|go:"GO:0007224"(smoothened signaling pathway)|go:"GO:0007254"(JNK cascade)|go:"GO:0007275"(multicellular organism development)|go:"GO:0008285"(negative regulation of cell population proliferation)|go:"GO:0009986"(cell surface)|go:"GO:0010976"(positive regulation of neuron projection development)|go:"GO:0014002"(astrocyte development)|go:"GO:0014068"(positive regulation of phosphatidylinositol 3-kinase signaling)|go:"GO:0017147"(Wnt-protein binding)|go:"GO:0030282"(bone mineralization)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0030425"(dendrite)|go:"GO:0030509"(BMP signaling pathway)|go:"GO:0030538"(embryonic genitalia morphogenesis)|go:"GO:0030539"(male genitalia development)|go:"GO:0030669"(clathrin-coated endocytic vesicle membrane)|go:"GO:0031435"(mitogen-activated protein kinase kinase kinase binding)|go:"GO:0033674"(positive regulation of kinase activity)|go:"GO:0042472"(inner ear morphogenesis)|go:"GO:0042733"(embryonic digit morphogenesis)|go:"GO:0043025"(neuronal cell body)|go:"GO:1905517"(macrophage migration)|interpro:IPR000001(Kringle)|go:"GO:0043235"(receptor complex)|go:"GO:0043410"(positive regulation of MAPK cascade)|interpro:IPR000719(Protein kinase, core)|interpro:IPR001245(Tyrosine protein kinase)|interpro:IPR003598(Immunoglobulin subtype 2)|interpro:IPR003599(Immunoglobulin subtype)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR008266(Tyrosine protein kinase, active site)|interpro:IPR011009(Protein kinase-like)|interpro:IPR013098(Immunoglobulin I-set)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR013806(Kringle-like fold)|go:"GO:0043507"(positive regulation of JUN kinase activity)|interpro:IPR016247(Tyrosine-protein kinase transmembrane receptor ROR)|go:"GO:0045165"(cell fate commitment)|interpro:IPR018056|interpro:IPR020067|interpro:IPR036179|go:"GO:0045651"(positive regulation of macrophage differentiation)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|go:"GO:0046872"(metal ion binding)|go:"GO:0051968"(positive regulation of synaptic transmission, glutamatergic)|go:"GO:0060395"(SMAD protein signal transduction)|interpro:IPR036790|interpro:IPR038178|mint:Q01974|rcsb pdb:3ZZW|rcsb pdb:4GT4|rcsb pdb:6OSH|rcsb pdb:6OSN|go:"GO:0090090"(negative regulation of canonical Wnt signaling pathway)|go:"GO:0090263"(positive regulation of canonical Wnt signaling pathway)|rcsb pdb:6OSV|reactome:R-HSA-4086400|reactome:R-HSA-5140745|go:"GO:1900020"(positive regulation of protein kinase C activity)|go:"GO:1904929"(coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway)|refseq:NP_001305133.1|refseq:NP_004551.2 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:gEEAvjiYUC5dWEtyCE0eb0K+MTU9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q03001-8 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-9640610|ensembl:ENSP00000244364 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q03001-8(display_long)|uniprotkb:230 kDa bullous pemphigoid antigen(gene name synonym)|uniprotkb:230/240 kDa bullous pemphigoid antigen(gene name synonym)|uniprotkb:BP230(gene name synonym)|uniprotkb:BP240(gene name synonym)|uniprotkb:BPAG1(gene name synonym)|uniprotkb:Bullous pemphigoid antigen 1(gene name synonym)|uniprotkb:DMH(gene name synonym)|uniprotkb:DT(gene name synonym)|uniprotkb:Dystonia musculorum protein(gene name synonym)|uniprotkb:Hemidesmosomal plaque protein(gene name synonym)|uniprotkb:KIAA0728(gene name synonym)|uniprotkb:BPAG1eA(isoform synonym)|uniprotkb:Dystonin-1(isoform synonym)|uniprotkb:eA(isoform synonym)|uniprotkb:DST(gene name)|psi-mi:DST(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000151914(gene)|ensembl:ENST00000244364(transcript)|intact:EBI-310758(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:xlbIe8Z+KkUFNqSFe14Lp0EsJQQ9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q71H61 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-7544858|intact:MINT-3975840|ensembl:ENSP00000271417 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:ildr2_human(display_long)|uniprotkb:ILDR2(gene name)|psi-mi:ILDR2(display_short)|uniprotkb:C1orf32(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSP00000271417|refseq:NP_955383.1|ensembl:ENSG00000143195(gene)|ensembl:ENST00000271417(transcript)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0009749"(response to glucose)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030073"(insulin secretion)|go:"GO:0030154"(cell differentiation)|go:"GO:0031016"(pancreas development)|go:"GO:0048873"(homeostasis of number of cells within a tissue)|interpro:IPR003599(Immunoglobulin subtype)|interpro:IPR008664(LISCH7)|interpro:IPR036179|mint:Q71H61 - - comment:mint figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:0Fc6ExUudV+k8R68IL7tbL7Csvw9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q15464 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-4402156|uniprotkb:B9EGM0|uniprotkb:D3DRQ5|uniprotkb:Q504U5|uniprotkb:Q5VUM8|ensembl:ENSP00000366936 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:shb_human(display_long)|uniprotkb:SHB(gene name)|psi-mi:SHB(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_003019.2|ensembl:ENSG00000107338(gene)|ensembl:ENST00000377707(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0001784"(phosphotyrosine residue binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0006915"(apoptotic process)|go:"GO:0007165"(signal transduction)|go:"GO:0030154"(cell differentiation)|go:"GO:0036464"(cytoplasmic ribonucleoprotein granule)|interpro:IPR000980(SH2 motif)|interpro:IPR035040|interpro:IPR035045|interpro:IPR036860|mint:Q15464|reactome:R-HSA-4420097 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:DD+KZlDzdHYok9if0pI0b4yKcf49606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q02487 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-3048545|ensembl:ENSP00000280904 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:dsc2_human(display_long)|uniprotkb:DSC2(gene name)|psi-mi:DSC2(display_short)|uniprotkb:CDHF2(gene name synonym)|uniprotkb:DSC3(gene name synonym)|uniprotkb:Cadherin family member 2(gene name synonym)|uniprotkb:Desmocollin-3(gene name synonym)|uniprotkb:Desmosomal glycoprotein II(gene name synonym)|uniprotkb:Desmosomal glycoprotein III(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000134755(gene)|ensembl:ENST00000280904(transcript)|go:"GO:0001533"(cornified envelope)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0005911"(cell-cell junction)|go:"GO:0007155"(cell adhesion)|go:"GO:0007156"(homophilic cell adhesion via plasma membrane adhesion molecules)|go:"GO:0014704"(intercalated disc)|go:"GO:0030057"(desmosome)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0070062"(extracellular exosome)|go:"GO:0086042"(cardiac muscle cell-cardiac muscle cell adhesion)|go:"GO:0086073"(bundle of His cell-Purkinje myocyte adhesion involved in cell communication)|go:"GO:0086083"(cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0098609"(cell-cell adhesion)|go:"GO:0098911"(regulation of ventricular cardiac muscle cell action potential)|interpro:IPR000233(Cadherin cytoplasmic region)|interpro:IPR002126(Cadherin)|interpro:IPR009122(Desmosomal cadherin)|interpro:IPR014868(Cadherin prodomain like)|interpro:IPR015919(Cadherin-like)|interpro:IPR020894|go:"GO:0016021"(integral component of membrane)|rcsb pdb:5ERP|interpro:IPR027397|rcsb pdb:5J5J|rcsb pdb:7A7D|reactome:R-HSA-6805567|reactome:R-HSA-6809371|refseq:NP_004940.1|refseq:NP_077740.1 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:EUXe5KbkWaO5wRalhRX+pf7jkOQ9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P08195-4 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-12832276|ensembl:ENSP00000440001 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:p08195-4(display_long)|uniprotkb:SLC3A2(gene name)|psi-mi:SLC3A2(display_short)|uniprotkb:4F2 heavy chain antigen(gene name synonym)|uniprotkb:Lymphocyte activation antigen 4F2 large subunit(gene name synonym)|uniprotkb:MDU1(gene name synonym)|uniprotkb:Solute carrier family 3 member 2(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:P08195-4(isoform-parent)|intact:EBI-702356(isoform-parent)|ensembl:ENSG00000168003(gene)|ensembl:ENST00000538084(transcript) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:R1Y+DBkglsO3YR5F/rjA0LX1Vd09606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P14923 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-702484|uniprotkb:Q15093|intact:EBI-988999|intact:EBI-744449|uniprotkb:Q9HCX9|uniprotkb:Q15151|uniprotkb:Q7L3S5|uniprotkb:Q86W21|uniprotkb:Q9BWC4|ensembl:ENSP00000311113|ensembl:ENSP00000377507|ensembl:ENSP00000377508 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:plak_human(display_long)|uniprotkb:JUP(gene name)|psi-mi:JUP(display_short)|uniprotkb:DP3(gene name synonym)|uniprotkb:CTNNG(gene name synonym)|uniprotkb:Desmoplakin-3(gene name synonym)|uniprotkb:Desmoplakin III(gene name synonym)|uniprotkb:Catenin gamma(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_002221.1|refseq:NP_068831.1|refseq:XP_011523055.1|refseq:XP_011523057.1|refseq:XP_011523058.1|refseq:XP_011523059.1|refseq:XP_011523060.1|refseq:XP_006721936.1|refseq:XP_006721937.1|refseq:XP_006721938.1|refseq:XP_006721941.1|refseq:XP_016880079.1|dip:DIP-36235N|ensembl:ENSG00000173801(gene)|ensembl:ENST00000310706(transcript)|ensembl:ENST00000393930(transcript)|ensembl:ENST00000393931(transcript)|go:"GO:0001533"(cornified envelope)|go:"GO:0001954"(positive regulation of cell-matrix adhesion)|go:"GO:0002159"(desmosome assembly)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005882"(intermediate filament)|go:"GO:0005886"(plasma membrane)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005912"(adherens junction)|go:"GO:0005915"(zonula adherens)|go:"GO:0005916"(fascia adherens)|go:"GO:0005925"(focal adhesion)|go:"GO:0009898"(cytoplasmic side of plasma membrane)|go:"GO:0014704"(intercalated disc)|go:"GO:0015629"(actin cytoskeleton)|go:"GO:0016327"(apicolateral plasma membrane)|go:"GO:0016328"(lateral plasma membrane)|go:"GO:0016342"(catenin complex)|go:"GO:0016477"(cell migration)|go:"GO:0016922"(nuclear receptor binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0019903"(protein phosphatase binding)|go:"GO:0030018"(Z disc)|go:"GO:0030057"(desmosome)|go:"GO:0032993"(protein-DNA complex)|go:"GO:0035580"(specific granule lumen)|go:"GO:0042127"(regulation of cell population proliferation)|go:"GO:0042307"(positive regulation of protein import into nucleus)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043537"(negative regulation of blood vessel endothelial cell migration)|go:"GO:0043588"(skin development)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045294"(alpha-catenin binding)|go:"GO:0045296"(cadherin binding)|go:"GO:0045766"(positive regulation of angiogenesis)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0050839"(cell adhesion molecule binding)|go:"GO:0050982"(detection of mechanical stimulus)|go:"GO:0051091"(positive regulation of DNA-binding transcription factor activity)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071603"(endothelial cell-cell adhesion)|go:"GO:0071665"(gamma-catenin-TCF7L2 complex)|go:"GO:0071681"(cellular response to indole-3-methanol)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0086073"(bundle of His cell-Purkinje myocyte adhesion involved in cell communication)|go:"GO:0086083"(cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090263"(positive regulation of canonical Wnt signaling pathway)|go:"GO:0098609"(cell-cell adhesion)|go:"GO:0098911"(regulation of ventricular cardiac muscle cell action potential)|go:"GO:0106006"(cytoskeletal protein-membrane anchor activity)|go:"GO:1904813"(ficolin-1-rich granule lumen)|interpro:IPR000225(Armadillo)|interpro:IPR011989(Armadillo-like helical)|interpro:IPR013284(Beta-catenin)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR030461|mint:P14923|rcsb pdb:3IFQ|reactome:R-HSA-418990|reactome:R-HSA-5218920|reactome:R-HSA-6798695|reactome:R-HSA-6805567|reactome:R-HSA-6809371|reactome:R-HSA-8980692|reactome:R-HSA-9013026|reactome:R-HSA-9013106|reactome:R-HSA-9013148|reactome:R-HSA-9013406|reactome:R-HSA-9013407|reactome:R-HSA-9013409 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:qOBUlbifyKUk1xF0Zr9jZPkZozc9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q6P995-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27069385|ensembl:ENSP00000304108 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q6p995-1(display_long)|uniprotkb:FAM171B(gene name)|psi-mi:FAM171B(display_short)|uniprotkb:KIAA1946(gene name synonym)|uniprotkb:NPD019(orf name) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000144369(gene)|ensembl:ENST00000304698(transcript)|intact:EBI-3916634(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:khdWGder6phnnssGskXHCoWX4e09606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9Y6M5 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-10982148|ensembl:ENSP00000355968|uniprotkb:Q0VAK9|uniprotkb:Q9BZF6 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:znt1_human(display_long)|uniprotkb:SLC30A1(gene name)|psi-mi:SLC30A1(display_short)|uniprotkb:Solute carrier family 30 member 1(gene name synonym)|uniprotkb:ZNT1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_067017.2|ensembl:ENSG00000170385(gene)|ensembl:ENST00000367001(transcript)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0005385"(zinc ion transmembrane transporter activity)|go:"GO:0005737"(cytoplasm)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0006829"(zinc ion transport)|go:"GO:0006874"(cellular calcium ion homeostasis)|go:"GO:0006882"(cellular zinc ion homeostasis)|go:"GO:0010312"(detoxification of zinc ion)|go:"GO:0016021"(integral component of membrane)|go:"GO:0019855"(calcium channel inhibitor activity)|go:"GO:0030315"(T-tubule)|go:"GO:0031965"(nuclear membrane)|go:"GO:0046929"(negative regulation of neurotransmitter secretion)|go:"GO:0070509"(calcium ion import)|go:"GO:0070574"(cadmium ion transmembrane transport)|go:"GO:0071577"(zinc ion transmembrane transport)|go:"GO:0071584"(negative regulation of zinc ion transmembrane import)|go:"GO:0071585"(detoxification of cadmium ion)|go:"GO:0090281"(negative regulation of calcium ion import)|go:"GO:0098685"(Schaffer collateral - CA1 synapse)|go:"GO:0099061"(integral component of postsynaptic density membrane)|interpro:IPR002524(Cation efflux protein)|interpro:IPR027469|interpro:IPR036837|mint:Q9Y6M5|reactome:R-HSA-435368 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:XL8LmzhYwIWnN1yPFHnDkoJg2TE9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q96QD8 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-723083|uniprotkb:Q6ZMG2|uniprotkb:Q9HAV3|uniprotkb:Q9NVA8|uniprotkb:Q9P2G5|uniprotkb:Q6IA88|ensembl:ENSP00000256689 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:s38a2_human(display_long)|uniprotkb:ATA2(gene name synonym)|uniprotkb:KIAA1382(gene name synonym)|uniprotkb:SAT2(gene name synonym)|uniprotkb:SNAT2(gene name synonym)|uniprotkb:Amino acid transporter A2(gene name synonym)|uniprotkb:System A amino acid transporter 2(gene name synonym)|uniprotkb:System N amino acid transporter 2(gene name synonym)|uniprotkb:System A transporter 1(gene name synonym)|uniprotkb:Solute carrier family 38 member 2(gene name synonym)|uniprotkb:Protein 40-9-1(gene name synonym)|uniprotkb:SLC38A2(gene name)|psi-mi:SLC38A2(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_061849.2|go:"GO:0030425"(dendrite)|go:"GO:0031460"(glycine betaine transport)|go:"GO:0032328"(alanine transport)|go:"GO:0033120"(positive regulation of RNA splicing)|go:"GO:0034198"(cellular response to amino acid starvation)|go:"GO:0042383"(sarcolemma)|go:"GO:0043025"(neuronal cell body)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0080135"(regulation of cellular response to stress)|go:"GO:0150104"(transport across blood-brain barrier)|go:"GO:1903841"("cellular response to arsenite(3-)")|interpro:IPR013057(Amino acid transporter, transmembrane)|reactome:R-HSA-210500|reactome:R-HSA-352230|go:"GO:0030424"(axon)|ensembl:ENSG00000134294(gene)|ensembl:ENST00000256689(transcript)|go:"GO:0003333"(amino acid transmembrane transport)|go:"GO:0005295"("neutral amino acid:sodium symporter activity")|go:"GO:0005737"(cytoplasm)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005903"(brush border)|go:"GO:0006836"(neurotransmitter transport)|go:"GO:0006865"(amino acid transport)|go:"GO:0006868"(glutamine transport)|go:"GO:0007565"(female pregnancy)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0015171"(amino acid transmembrane transporter activity)|go:"GO:0015186"(L-glutamine transmembrane transporter activity)|go:"GO:0015194"(L-serine transmembrane transporter activity)|go:"GO:0015804"(neutral amino acid transport)|go:"GO:0015825"(L-serine transport)|go:"GO:0021987"(cerebral cortex development)|refseq:NP_001294865.1 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:2L7TtYR3hQkSrpC/Ig4ODtgCad09606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q13443 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-77903|uniprotkb:B7ZLN7|ensembl:ENSP00000419446|uniprotkb:Q10718|uniprotkb:Q8NFM6 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:adam9_human(display_long)|uniprotkb:ADAM9(gene name)|psi-mi:ADAM9(display_short)|uniprotkb:KIAA0021(gene name synonym)|uniprotkb:MCMP(gene name synonym)|uniprotkb:MDC9(gene name synonym)|uniprotkb:Myeloma cell metalloproteinase(gene name synonym)|uniprotkb:Meltrin-gamma(gene name synonym)|uniprotkb:Cellular disintegrin-related protein(gene name synonym)|uniprotkb:Metalloprotease/disintegrin/cysteine-rich protein 9(gene name synonym)|uniprotkb:MLTNG(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 go:"GO:0007160"(cell-matrix adhesion)|ensembl:ENSG00000168615(gene)|ensembl:ENST00000487273(transcript)|go:"GO:0004222"(metalloendopeptidase activity)|go:"GO:0005080"(protein kinase C binding)|go:"GO:0005178"(integrin binding)|go:"GO:0005518"(collagen binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005925"(focal adhesion)|go:"GO:0006509"(membrane protein ectodomain proteolysis)|go:"GO:0007155"(cell adhesion)|go:"GO:0007179"(transforming growth factor beta receptor signaling pathway)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0008237"(metallopeptidase activity)|go:"GO:0009986"(cell surface)|go:"GO:0010042"(response to manganese ion)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016477"(cell migration)|go:"GO:0016485"(protein processing)|go:"GO:0017124"(SH3 domain binding)|go:"GO:0030216"(keratinocyte differentiation)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0031233"(intrinsic component of external side of plasma membrane)|go:"GO:0031293"(membrane protein intracellular domain proteolysis)|go:"GO:0033627"(cell adhesion mediated by integrin)|go:"GO:0033630"(positive regulation of cell adhesion mediated by integrin)|go:"GO:0033631"(cell-cell adhesion mediated by integrin)|go:"GO:0034241"(positive regulation of macrophage fusion)|go:"GO:0034612"(response to tumor necrosis factor)|go:"GO:0034616"(response to laminar fluid shear stress)|go:"GO:0042117"(monocyte activation)|go:"GO:0042542"(response to hydrogen peroxide)|go:"GO:0042987"(amyloid precursor protein catabolic process)|go:"GO:0043236"(laminin binding)|go:"GO:0043406"(positive regulation of MAP kinase activity)|go:"GO:0046872"(metal ion binding)|go:"GO:0050714"(positive regulation of protein secretion)|go:"GO:0051044"(positive regulation of membrane protein ectodomain proteolysis)|go:"GO:0051384"(response to glucocorticoid)|go:"GO:0051549"(positive regulation of keratinocyte migration)|go:"GO:0051592"(response to calcium ion)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:0097327"(response to antineoplastic agent)|go:"GO:1902945"(metalloendopeptidase activity involved in amyloid precursor protein catabolic process)|interpro:IPR000742(EGF-like, type 3)|interpro:IPR001590(Peptidase M12B, ADAM/reprolysin)|interpro:IPR001762(Blood coagulation inhibitor, Disintegrin)|interpro:IPR002870(Peptidase M12B, propeptide)|interpro:IPR006586(ADAM, cysteine-rich)|interpro:IPR018358|interpro:IPR024079|interpro:IPR034027|interpro:IPR036436|rcsb pdb:1M1V|reactome:R-HSA-1442490|refseq:NP_003807.1 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:cgdFZLtfiaqZ+oJvDARR1AbFA+I9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q8WUY9 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-3924857|uniprotkb:Q9NW57|uniprotkb:Q9NUN3|uniprotkb:A8K3R9|uniprotkb:Q8IZY6|uniprotkb:Q86WJ3|ensembl:ENSP00000265036|uniprotkb:B4DUT4 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:dep1b_human(display_long)|uniprotkb:DEPDC1B(gene name)|psi-mi:DEPDC1B(display_short)|uniprotkb:XTP8(gene name synonym)|uniprotkb:HBV X-transactivated gene 8 protein(gene name synonym)|uniprotkb:HBV XAg-transactivated protein 8(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001138680.1|refseq:NP_060839.2|ensembl:ENSG00000035499(gene)|ensembl:ENST00000265036(transcript)|go:"GO:0005096"(GTPase activator activity)|go:"GO:0016477"(cell migration)|go:"GO:0030177"(positive regulation of Wnt signaling pathway)|go:"GO:0035556"(intracellular signal transduction)|interpro:IPR000198(RhoGAP)|interpro:IPR000591(Pleckstrin/ G-protein, interacting region)|interpro:IPR008936(Rho GTPase activation protein)|interpro:IPR036388|interpro:IPR036390|reactome:R-HSA-8980692|reactome:R-HSA-9013026|reactome:R-HSA-9013106|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-9013404|reactome:R-HSA-9013405|reactome:R-HSA-9013406|reactome:R-HSA-9013408|reactome:R-HSA-9013409|reactome:R-HSA-9013420|reactome:R-HSA-9013423|reactome:R-HSA-9013424|reactome:R-HSA-9035034|reactome:R-HSA-9696264|reactome:R-HSA-9696270|reactome:R-HSA-9696273 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:hB4cpkhzz9Fhn3JGJr9/KNfHtwE9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P52569-3 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-21504474 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:p525693(display_long)|uniprotkb:SLC7A2(gene name)|psi-mi:SLC7A2(display_short)|uniprotkb:ATRC2(gene name synonym)|uniprotkb:CAT2(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:P52569-3(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:T9XnR9QvsVW0vAwzrc6w5Sf3rKQ9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q14126 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-2556545|uniprotkb:Q4KKU6|ensembl:ENSP00000261590 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:dsg2_human(display_long)|uniprotkb:CDHF5(gene name synonym)|uniprotkb:HDGC(gene name synonym)|uniprotkb:Cadherin family member 5(gene name synonym)|uniprotkb:DSG2(gene name)|psi-mi:DSG2(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001934.2|reactome:R-HSA-9013423|ensembl:ENSG00000046604(gene)|ensembl:ENST00000261590(transcript)|go:"GO:0001533"(cornified envelope)|go:"GO:0002934"(desmosome organization)|go:"GO:0003165"(Purkinje myocyte development)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0005911"(cell-cell junction)|go:"GO:0007155"(cell adhesion)|go:"GO:0007156"(homophilic cell adhesion via plasma membrane adhesion molecules)|go:"GO:0009986"(cell surface)|go:"GO:0014704"(intercalated disc)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030054"(cell junction)|go:"GO:0030057"(desmosome)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0050839"(cell adhesion molecule binding)|go:"GO:0070062"(extracellular exosome)|go:"GO:0086083"(cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0098609"(cell-cell adhesion)|go:"GO:0098911"(regulation of ventricular cardiac muscle cell action potential)|interpro:IPR002126(Cadherin)|interpro:IPR009122(Desmosomal cadherin)|interpro:IPR009123(Desmoglein)|interpro:IPR015919(Cadherin-like)|interpro:IPR020894|interpro:IPR027397|rcsb pdb:2YQG|rcsb pdb:5ERD|rcsb pdb:5J5J|rcsb pdb:6QNT|rcsb pdb:6QNU|rcsb pdb:6SIT|rcsb pdb:7A7D|rcsb pdb:7AGF|rcsb pdb:7AGG|reactome:R-HSA-351906|reactome:R-HSA-6805567|reactome:R-HSA-6809371|reactome:R-HSA-9013404|go:"GO:0086073"(bundle of His cell-Purkinje myocyte adhesion involved in cell communication)|reactome:R-HSA-9013408|dip:DIP-46250N - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:LCSf84WRgh5lTrze5IEzFaBeuEc9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q16625-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-16115673|ensembl:ENSP00000347379|ensembl:ENSP00000379719|ensembl:ENSP00000505426|ensembl:ENSP00000505541|ensembl:ENSP00000506162 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q16625-1(display_long)|uniprotkb:OCLN(gene name)|psi-mi:OCLN(display_short)|uniprotkb:WT-OCLN(isoform synonym)|uniprotkb:"TM4(+)"(isoform synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000197822(gene)|ensembl:ENST00000355237(transcript)|ensembl:ENST00000396442(transcript)|ensembl:ENST00000680027(transcript)|ensembl:ENST00000681041(transcript)|ensembl:ENST00000681586(transcript)|intact:EBI-2903088(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:RyZ9uIVH0TdDwlIFaGJJYbuHvmY9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9Y6M7-13 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27069552 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q9y6m7-13(display_long)|uniprotkb:"Electroneutral Na/HCO(3) cotransporter"(gene name synonym)|uniprotkb:Sodium bicarbonate cotransporter 2(gene name synonym)|uniprotkb:Sodium bicarbonate cotransporter 2b(gene name synonym)|uniprotkb:Solute carrier family 4 member 7(gene name synonym)|uniprotkb:SLC4A7(gene name)|psi-mi:SLC4A7(display_short)|uniprotkb:BT(gene name synonym)|uniprotkb:NBC2(gene name synonym)|uniprotkb:NBC2B(gene name synonym)|uniprotkb:NBC3(gene name synonym)|uniprotkb:NBCn1(gene name synonym)|uniprotkb:SBC2(gene name synonym)|uniprotkb:SLC4A6(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-1044546(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:YZaNwQ4VY48gejyYelmeWrLaTsU9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9Y666 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-11343390|uniprotkb:Q9H7I7|uniprotkb:Q9UFW2|uniprotkb:Q4G0F3|uniprotkb:A6NDS8|uniprotkb:Q9H7I3|uniprotkb:Q96I81|intact:EBI-28983151|ensembl:ENSP00000264930 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:s12a7_human(display_long)|uniprotkb:SLC12A7(gene name)|psi-mi:SLC12A7(display_short)|uniprotkb:Electroneutral potassium-chloride cotransporter 4(gene name synonym)|uniprotkb:K-Cl cotransporter 4(gene name synonym)|uniprotkb:KCC4(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_006589.2|ensembl:ENSP00000264930|ensembl:ENSG00000113504(gene)|ensembl:ENST00000264930(transcript)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006811"(ion transport)|go:"GO:0006884"(cell volume homeostasis)|go:"GO:0007268"(chemical synaptic transmission)|go:"GO:0008519"(ammonium transmembrane transporter activity)|go:"GO:0015379"("potassium:chloride symporter activity")|go:"GO:0019901"(protein kinase binding)|go:"GO:0032991"(protein-containing complex)|go:"GO:0045202"(synapse)|go:"GO:0055064"(chloride ion homeostasis)|go:"GO:0055075"(potassium ion homeostasis)|go:"GO:0140157"(ammonium import across plasma membrane)|go:"GO:1902476"(chloride transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR000076(K-Cl co-transporter)|interpro:IPR004841(Amino acid permease-associated region)|interpro:IPR004842(Na-K-Cl cotransporter superfamily)|interpro:IPR018491|interpro:IPR030354|rcsb pdb:7D99|reactome:R-HSA-426117 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:4z0oCNNSMkV224b87jltdRGr3eg9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9UHN6-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27069544 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q9uhn6-1(display_long)|uniprotkb:CEMIP2(gene name)|psi-mi:CEMIP2(display_short)|uniprotkb:KIAA1412(gene name synonym)|uniprotkb:TMEM2(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:Q9UHN6-1(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:LVdpEH7Df1biSXHseli56Y9l9XQ9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P00533-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27069534|ensembl:ENSP00000275493 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:p00533-1(display_long)|uniprotkb:Receptor tyrosine-protein kinase erbB-1(gene name synonym)|uniprotkb:Proto-oncogene c-ErbB-1(gene name synonym)|uniprotkb:p170(isoform synonym)|uniprotkb:EGFR(gene name)|psi-mi:EGFR(display_short)|uniprotkb:ERBB(gene name synonym)|uniprotkb:ERBB1(gene name synonym)|uniprotkb:HER1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000146648(gene)|ensembl:ENST00000275493(transcript)|intact:EBI-297353(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:gXB5slVTC+z8DdqqXIzXG7lDwk09606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P29317 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-702104|uniprotkb:Q8N3Z2|uniprotkb:B5A968|intact:EBI-28989000|ensembl:ENSP00000351209 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:epha2_human(display_long)|uniprotkb:Tyrosine-protein kinase receptor ECK(gene name synonym)|uniprotkb:Epithelial cell kinase(gene name synonym)|uniprotkb:EPHA2(gene name)|psi-mi:EPHA2(display_short)|uniprotkb:ECK(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_004422.2|ensembl:ENSP00000351209|dip:DIP-96N|ensembl:ENSG00000142627(gene)|ensembl:ENST00000358432(transcript)|go:"GO:0001501"(skeletal system development)|go:"GO:0001570"(vasculogenesis)|go:"GO:0001618"(virus receptor activity)|go:"GO:0001649"(osteoblast differentiation)|go:"GO:0002043"(blood vessel endothelial cell proliferation involved in sprouting angiogenesis)|go:"GO:0004714"(transmembrane receptor protein tyrosine kinase activity)|go:"GO:0005005"(transmembrane-ephrin receptor activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0006954"(inflammatory response)|go:"GO:0007155"(cell adhesion)|go:"GO:0007169"(transmembrane receptor protein tyrosine kinase signaling pathway)|go:"GO:0007275"(multicellular organism development)|go:"GO:0007411"(axon guidance)|go:"GO:0008630"(intrinsic apoptotic signaling pathway in response to DNA damage)|go:"GO:0009986"(cell surface)|go:"GO:0010591"(regulation of lamellipodium assembly)|go:"GO:0014028"(notochord formation)|go:"GO:0016477"(cell migration)|go:"GO:0016525"(negative regulation of angiogenesis)|go:"GO:0019838"(growth factor binding)|go:"GO:0021915"(neural tube development)|go:"GO:0030027"(lamellipodium)|go:"GO:0030216"(keratinocyte differentiation)|go:"GO:0030316"(osteoclast differentiation)|go:"GO:0031256"(leading edge membrane)|go:"GO:0031258"(lamellipodium membrane)|go:"GO:0032587"(ruffle membrane)|go:"GO:0032682"(negative regulation of chemokine production)|go:"GO:0033598"(mammary gland epithelial cell proliferation)|go:"GO:0033628"(regulation of cell adhesion mediated by integrin)|go:"GO:0033674"(positive regulation of kinase activity)|go:"GO:0036342"(post-anal tail morphogenesis)|go:"GO:0043005"(neuron projection)|go:"GO:0043235"(receptor complex)|go:"GO:0043491"(protein kinase B signaling)|go:"GO:0043535"(regulation of blood vessel endothelial cell migration)|go:"GO:0045296"(cadherin binding)|go:"GO:0045765"(regulation of angiogenesis)|go:"GO:0046058"(cAMP metabolic process)|go:"GO:0046849"(bone remodeling)|go:"GO:0048013"(ephrin receptor signaling pathway)|go:"GO:0048320"(axial mesoderm formation)|go:"GO:0048870"(cell motility)|go:"GO:0050830"(defense response to Gram-positive bacterium)|go:"GO:0051898"(negative regulation of protein kinase B signaling)|go:"GO:0060035"(notochord cell development)|go:"GO:0060326"(cell chemotaxis)|go:"GO:0060444"(branching involved in mammary gland duct morphogenesis)|go:"GO:0070160"(tight junction)|go:"GO:0070309"(lens fiber cell morphogenesis)|go:"GO:0070372"(regulation of ERK1 and ERK2 cascade)|go:"GO:0070848"(response to growth factor)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0090630"(activation of GTPase activity)|go:"GO:1901491"(negative regulation of lymphangiogenesis)|go:"GO:1903078"(positive regulation of protein localization to plasma membrane)|go:"GO:1903348"(positive regulation of bicellular tight junction assembly)|go:"GO:1904238"(pericyte cell differentiation)|interpro:IPR000719(Protein kinase, core)|interpro:IPR001090(Ephrin receptor, ligand binding)|interpro:IPR001245(Tyrosine protein kinase)|interpro:IPR001426(Receptor tyrosine kinase, class V, conserved site)|interpro:IPR001660(Sterile alpha motif SAM)|interpro:IPR003961(Fibronectin, type III)|interpro:IPR008266(Tyrosine protein kinase, active site)|interpro:IPR008979(Galactose-binding like)|interpro:IPR009030(Growth factor, receptor)|interpro:IPR011009(Protein kinase-like)|interpro:IPR013761(Sterile alpha motif-type)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR016257(Tyrosine-protein kinase, ephrin receptor)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR020635|interpro:IPR027936|interpro:IPR034263|interpro:IPR036116|mint:P29317|rcsb pdb:1MQB|rcsb pdb:2E8N|rcsb pdb:2K9Y|rcsb pdb:2KSO|rcsb pdb:2X10|rcsb pdb:2X11|rcsb pdb:3C8X|rcsb pdb:3CZU|rcsb pdb:3FL7|rcsb pdb:3HEI|rcsb pdb:3HPN|rcsb pdb:3KKA|rcsb pdb:3MBW|rcsb pdb:3MX0|rcsb pdb:3SKJ|rcsb pdb:4P2K|rcsb pdb:4PDO|rcsb pdb:4TRL|rcsb pdb:5EK7|rcsb pdb:5I9U|rcsb pdb:5I9V|rcsb pdb:5I9W|rcsb pdb:5I9X|rcsb pdb:5I9Y|rcsb pdb:5I9Z|rcsb pdb:5IA0|rcsb pdb:5IA1|rcsb pdb:5IA2|rcsb pdb:5IA3|rcsb pdb:5IA4|rcsb pdb:5IA5|rcsb pdb:5NJZ|rcsb pdb:5NK0|rcsb pdb:5NK1|rcsb pdb:5NK2|rcsb pdb:5NK3|rcsb pdb:5NK4|rcsb pdb:5NK5|rcsb pdb:5NK6|rcsb pdb:5NK7|rcsb pdb:5NK8|rcsb pdb:5NK9|rcsb pdb:5NKA|rcsb pdb:5NKB|rcsb pdb:5NKC|rcsb pdb:5NKD|rcsb pdb:5NKE|rcsb pdb:5NKF|rcsb pdb:5NKG|rcsb pdb:5NKH|rcsb pdb:5NKI|rcsb pdb:5NZ9|rcsb pdb:6B9L|rcsb pdb:6F7M|rcsb pdb:6F7N|rcsb pdb:6FNF|rcsb pdb:6FNG|rcsb pdb:6FNH|rcsb pdb:6HES|rcsb pdb:6HET|rcsb pdb:6HEU|rcsb pdb:6HEV|rcsb pdb:6HEW|rcsb pdb:6HEX|rcsb pdb:6HEY|rcsb pdb:6NJZ|rcsb pdb:6NK0|rcsb pdb:6NK1|rcsb pdb:6NK2|rcsb pdb:6NKP|rcsb pdb:6Q7B|rcsb pdb:6Q7C|rcsb pdb:6Q7D|rcsb pdb:6Q7E|rcsb pdb:6Q7F|rcsb pdb:6Q7G|rcsb pdb:6RW2|rcsb pdb:7B7N|rcsb pdb:7CZE|rcsb pdb:7CZF|rcsb pdb:7KJA|rcsb pdb:7KJB|rcsb pdb:7KJC|reactome:R-HSA-2682334|reactome:R-HSA-3928663|reactome:R-HSA-3928665|reactome:R-HSA-9013149|reactome:R-HSA-9013404|reactome:R-HSA-9013408|reactome:R-HSA-9013420|reactome:R-HSA-9013423|reactome:R-HSA-9013424|reactome:R-HSA-9696264|reactome:R-HSA-9696270|reactome:R-HSA-9696273 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:9VFikLd4ftRmEyBpY0JHdpHINT09606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q15043 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-6116466|uniprotkb:A6NH98|uniprotkb:B4DIW3|uniprotkb:B6EU88|uniprotkb:D3DSR4|uniprotkb:Q6ZME8|uniprotkb:Q96BB3|ensembl:ENSP00000289952|ensembl:ENSP00000370635 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:s39ae_human(display_long)|uniprotkb:SLC39A14(gene name)|psi-mi:SLC39A14(display_short)|uniprotkb:KIAA0062(gene name synonym)|uniprotkb:ZIP14(gene name synonym)|uniprotkb:LIV-1 subfamily of ZIP zinc transporter 4(gene name synonym)|uniprotkb:Solute carrier family 39 member 14(gene name synonym)|uniprotkb:Zrt- and Irt-like protein 14(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:XP_011542780.1|refseq:NP_001121903.1|refseq:NP_001128625.1|refseq:NP_056174.2|refseq:XP_005273522.1|refseq:XP_005273523.1|refseq:XP_006716387.1|refseq:XP_016868783.1|refseq:XP_016868784.1|ensembl:ENSG00000104635(gene)|ensembl:ENST00000289952(transcript)|ensembl:ENST00000381237(transcript)|go:"GO:0002062"(chondrocyte differentiation)|go:"GO:0005381"(iron ion transmembrane transporter activity)|go:"GO:0005384"(manganese ion transmembrane transporter activity)|go:"GO:0005385"(zinc ion transmembrane transporter activity)|go:"GO:0005765"(lysosomal membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006094"(gluconeogenesis)|go:"GO:0006882"(cellular zinc ion homeostasis)|go:"GO:0008286"(insulin receptor signaling pathway)|go:"GO:0010817"(regulation of hormone levels)|go:"GO:0015086"(cadmium ion transmembrane transporter activity)|go:"GO:0015093"(ferrous iron transmembrane transporter activity)|go:"GO:0015296"("anion:cation symporter activity")|go:"GO:0016021"(integral component of membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0031902"(late endosome membrane)|go:"GO:0032869"(cellular response to insulin stimulus)|go:"GO:0033212"(iron import into cell)|go:"GO:0034755"(iron ion transmembrane transport)|go:"GO:0045745"(positive regulation of G protein-coupled receptor signaling pathway)|go:"GO:0051344"(negative regulation of cyclic-nucleotide phosphodiesterase activity)|go:"GO:0055071"(manganese ion homeostasis)|go:"GO:0070574"(cadmium ion transmembrane transport)|go:"GO:0071333"(cellular response to glucose stimulus)|go:"GO:0071421"(manganese ion transmembrane transport)|go:"GO:0071577"(zinc ion transmembrane transport)|go:"GO:0071578"(zinc ion import across plasma membrane)|go:"GO:0098739"(import across plasma membrane)|interpro:IPR003689(Zinc/iron permease)|mint:Q15043|reactome:R-HSA-442380 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:tpJl2FORU2if7SOPN8ZDwPvF+HM9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P09543-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27069528|ensembl:ENSP00000377470 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:p09543-1(display_long)|uniprotkb:CNP(gene name)|psi-mi:CNP(display_short)|uniprotkb:DNAII(isoform synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-1059219(isoform-parent)|ensembl:ENSG00000173786(gene)|ensembl:ENST00000393892(transcript) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:TpzVM789s3qQKK7B00Vo92s31bY9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O75110 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-2878108|ensembl:ENSP00000342481|uniprotkb:Q9NQK7|uniprotkb:Q6ZMF3|uniprotkb:Q5TFW9|uniprotkb:Q9NQK6|uniprotkb:Q5TFW5|uniprotkb:Q5TFW6|uniprotkb:E1P5Y3|uniprotkb:E1P5Y4 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:atp9a_human(display_long)|uniprotkb:ATP9A(gene name)|psi-mi:ATP9A(display_short)|uniprotkb:ATPIIA(gene name synonym)|uniprotkb:KIAA0611(gene name synonym)|uniprotkb:ATPase class II type 9A(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000054793(gene)|ensembl:ENST00000338821(transcript)|go:"GO:0000287"(magnesium ion binding)|go:"GO:0002020"(protease binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005768"(endosome)|go:"GO:0005769"(early endosome)|go:"GO:0005802"(trans-Golgi network)|go:"GO:0005886"(plasma membrane)|go:"GO:0006890"(retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum)|go:"GO:0006897"(endocytosis)|go:"GO:0016021"(integral component of membrane)|go:"GO:0031901"(early endosome membrane)|go:"GO:0032588"(trans-Golgi network membrane)|go:"GO:0045332"(phospholipid translocation)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0055037"(recycling endosome)|go:"GO:0055038"(recycling endosome membrane)|go:"GO:0140326"(ATPase-coupled intramembrane lipid transporter activity)|go:"GO:1903542"(negative regulation of exosomal secretion)|go:"GO:1905279"(regulation of retrograde transport, endosome to Golgi)|go:"GO:2001135"(regulation of endocytic recycling)|interpro:IPR001757(ATPase, P-type, K/Mg/Cd/Cu/Zn/Na/Ca/Na/H-transporter)|interpro:IPR006539(Phospholipid-translocating P-type ATPase, flippase)|interpro:IPR018303|interpro:IPR023214|interpro:IPR023298|interpro:IPR023299|interpro:IPR008250(E1-E2 ATPase-associated region)|interpro:IPR030356|interpro:IPR032630|interpro:IPR032631|interpro:IPR036412|interpro:IPR044492|reactome:R-HSA-936837|refseq:NP_006036.1 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:35fL6GyDDz0msmF8ZzmIbFNFY0w9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9BXF6 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-1387068|uniprotkb:O94939|uniprotkb:Q9P0M1|ensembl:ENSP00000258098 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:rfip5_human(display_long)|uniprotkb:RAB11FIP5(gene name)|psi-mi:RAB11FIP5(display_short)|uniprotkb:GAF1(gene name synonym)|uniprotkb:KIAA0857(gene name synonym)|uniprotkb:RIP11(gene name synonym)|uniprotkb:Rab11-interacting protein Rip11(gene name synonym)|uniprotkb:Gamma-SNAP-associated factor 1(gene name synonym)|uniprotkb:Phosphoprotein pp75(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_056285.1|ensembl:ENSG00000135631(gene)|ensembl:ENST00000258098(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0005739"(mitochondrion)|go:"GO:0005741"(mitochondrial outer membrane)|go:"GO:0005769"(early endosome)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0030141"(secretory granule)|go:"GO:0030658"(transport vesicle membrane)|go:"GO:0031267"(small GTPase binding)|go:"GO:0031901"(early endosome membrane)|go:"GO:0035773"(insulin secretion involved in cellular response to glucose stimulus)|go:"GO:0043015"(gamma-tubulin binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0045055"(regulated exocytosis)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0055037"(recycling endosome)|go:"GO:0055038"(recycling endosome membrane)|go:"GO:0070164"(negative regulation of adiponectin secretion)|go:"GO:0071468"(cellular response to acidic pH)|go:"GO:2000008"(regulation of protein localization to cell surface)|interpro:IPR000008(C2 calcium-dependent membrane targeting)|interpro:IPR019018|interpro:IPR035892|interpro:IPR037245|interpro:IPR037789|mint:Q9BXF6|go:"GO:0034451"(centriolar satellite) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:X3eYUlRpL+nSmU4gfUEA5RntseY9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q8NE01 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-741032|ensembl:ENSP00000305449|uniprotkb:Q8TBV4|uniprotkb:Q96IW4|uniprotkb:Q9NRK4|uniprotkb:Q9NXW6|uniprotkb:B3KX67 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:cnnm3_human(display_long)|uniprotkb:Cyclin-M3(gene name synonym)|uniprotkb:Ancient conserved domain-containing protein 3(gene name synonym)|uniprotkb:CNNM3(gene name)|psi-mi:CNNM3(display_short)|uniprotkb:ACDP3(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_060093.3|refseq:NP_951060.1|ensembl:ENSG00000168763(gene)|ensembl:ENST00000305510(transcript)|go:"GO:0006811"(ion transport)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0022857"(transmembrane transporter activity)|go:"GO:0043231"(intracellular membrane-bounded organelle)|interpro:IPR000644(Cystathionine beta-synthase, core)|interpro:IPR002550(Protein of unknown function DUF21)|interpro:IPR044751|mint:Q8NE01|rcsb pdb:5K22|rcsb pdb:5K23|rcsb pdb:5K25|rcsb pdb:5TSR|rcsb pdb:6DFD|rcsb pdb:6MN6|rcsb pdb:6WUR|go:"GO:0005886"(plasma membrane) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:AHuatMC/j3lteiKZli8vu5ZM6vk9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q3SXY8 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-11343438|uniprotkb:Q8TCL5|uniprotkb:Q504W8|uniprotkb:G3V1S8|uniprotkb:D3DN29|ensembl:ENSP00000377769|ensembl:ENSP00000420780 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:ar13b_human(display_long)|uniprotkb:ARL13B(gene name)|psi-mi:ARL13B(display_short)|uniprotkb:ADP-ribosylation factor-like protein 2-like 1(gene name synonym)|uniprotkb:ARL2L1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001167621.1|refseq:NP_001167622.1|refseq:NP_659433.2|refseq:NP_878899.1|reactome:R-HSA-9646399|ensembl:ENSG00000169379(gene)|ensembl:ENST00000394222(transcript)|ensembl:ENST00000471138(transcript)|go:"GO:0001947"(heart looping)|go:"GO:0003924"(GTPase activity)|go:"GO:0005525"(GTP binding)|go:"GO:0005829"(cytosol)|go:"GO:0005929"(cilium)|go:"GO:0005930"(axoneme)|go:"GO:0007224"(smoothened signaling pathway)|go:"GO:0009953"(dorsal/ventral pattern formation)|go:"GO:0010226"(response to lithium ion)|go:"GO:0021532"(neural tube patterning)|go:"GO:0021943"(formation of radial glial scaffolds)|go:"GO:0031514"(motile cilium)|go:"GO:0060170"(ciliary membrane)|go:"GO:0060271"(cilium assembly)|go:"GO:0070986"(left/right axis specification)|go:"GO:0097500"(receptor localization to non-motile cilium)|go:"GO:0097730"(non-motile cilium)|go:"GO:1905515"(non-motile cilium assembly)|interpro:IPR005225(Small GTP-binding protein)|interpro:IPR006689(ARF/SAR superfamily)|interpro:IPR027417|go:"GO:0021830"(interneuron migration from the subpallium to the cortex)|reactome:R-HSA-5624958|reactome:R-HSA-9013406|reactome:R-HSA-9013409|reactome:R-HSA-9613829|reactome:R-HSA-9615710|refseq:XP_016861342.1 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:4+UUoBstGIB4bfg75vAxWj0ppd89606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O14495 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-766232|uniprotkb:Q96GW0|uniprotkb:Q99782|uniprotkb:Q5U0F7|uniprotkb:B2R651|uniprotkb:D3DQ52|ensembl:ENSP00000360296 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:plpp3_human(display_long)|uniprotkb:PLPP3(gene name)|psi-mi:PLPP3(display_short)|uniprotkb:LPP3(gene name synonym)|uniprotkb:Lipid phosphate phosphohydrolase 3(gene name synonym)|uniprotkb:PAP2-beta(gene name synonym)|uniprotkb:PPAP2B(gene name synonym)|uniprotkb:Phosphatidate phosphohydrolase type 2b(gene name synonym)|uniprotkb:Phosphatidic acid phosphatase 2b(gene name synonym)|uniprotkb:Vascular endothelial growth factor and type I collagen-inducible protein(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_003704.3|ensembl:ENSG00000162407(gene)|ensembl:ENST00000371250(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0001933"(negative regulation of protein phosphorylation)|go:"GO:0005178"(integrin binding)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005802"(trans-Golgi network)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0006644"(phospholipid metabolic process)|go:"GO:0006670"(sphingosine metabolic process)|go:"GO:0006672"(ceramide metabolic process)|go:"GO:0006890"(retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum)|go:"GO:0007165"(signal transduction)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0008195"(phosphatidate phosphatase activity)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0030111"(regulation of Wnt signaling pathway)|go:"GO:0030148"(sphingolipid biosynthetic process)|go:"GO:0033116"(endoplasmic reticulum-Golgi intermediate compartment membrane)|go:"GO:0034109"(homotypic cell-cell adhesion)|go:"GO:0042392"(sphingosine-1-phosphate phosphatase activity)|go:"GO:0042577"(lipid phosphatase activity)|go:"GO:0044328"(canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration)|go:"GO:0044329"(canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion)|go:"GO:0044330"(canonical Wnt signaling pathway involved in positive regulation of wound healing)|go:"GO:0045121"(membrane raft)|go:"GO:0046839"(phospholipid dephosphorylation)|go:"GO:0050821"(protein stabilization)|go:"GO:0051091"(positive regulation of DNA-binding transcription factor activity)|go:"GO:0060070"(canonical Wnt signaling pathway)|go:"GO:0070971"(endoplasmic reticulum exit site)|go:"GO:0106235"(ceramide-1-phosphate phosphatase activity)|interpro:IPR000326(Phosphatidic acid phosphatase type 2/haloperoxidase)|interpro:IPR028675|interpro:IPR036938|interpro:IPR043216|reactome:R-HSA-1660661|go:"GO:0033631"(cell-cell adhesion mediated by integrin) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:R56fQqxou0UEOYkDskdYC4yHB1E9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P48050 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-706117|ensembl:ENSP00000306497|uniprotkb:Q14D44 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:kcnj4_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 4(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.3"(gene name synonym)|uniprotkb:Hippocampal inward rectifier(gene name synonym)|uniprotkb:HIRK2(gene name synonym)|uniprotkb:HRK1(gene name synonym)|uniprotkb:IRK3(gene name synonym)|uniprotkb:KCNJ4(gene name)|psi-mi:KCNJ4(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000168135(gene)|ensembl:ENST00000303592(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005886"(plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0030165"(PDZ domain binding)|go:"GO:0030659"(cytoplasmic vesicle membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0045211"(postsynaptic membrane)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003273(Potassium channel, inwardly rectifying, Kir2.3)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:3GJ9|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272|refseq:NP_004972.1|refseq:NP_690607.1 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:uHnUjkbaX0skIbR8UuCQgRgzGI89606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9NS62 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-2852613|uniprotkb:B2RCF5|uniprotkb:A2A3J3|uniprotkb:Q6UXZ2|uniprotkb:Q6P3U1|ensembl:ENSP00000258613 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:thsd1_human(display_long)|uniprotkb:THSD1(gene name)|psi-mi:THSD1(display_short)|uniprotkb:TMTSP(gene name synonym)|uniprotkb:Transmembrane molecule with thrombospondin module(gene name synonym)|uniprotkb:UNQ3010/PRO9769(orf name) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_061146.1|refseq:NP_954872.1|ensembl:ENSG00000136114(gene)|ensembl:ENST00000258613(transcript)|go:"GO:0005829"(cytosol)|go:"GO:0005925"(focal adhesion)|go:"GO:0010008"(endosome membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0048041"(focal adhesion assembly)|go:"GO:0050840"(extracellular matrix binding)|go:"GO:0071944"(cell periphery)|interpro:IPR000884(Thrombospondin, type I)|interpro:IPR036383|interpro:IPR038877|reactome:R-HSA-5083635|reactome:R-HSA-5173214|go:"GO:0005768"(endosome)|go:"GO:0005576"(extracellular region) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:g7tfrqrc5wkaPv0zj9GrZAITrCs9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O95185-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27069522 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:o95185-1(display_long)|uniprotkb:UNC5C(gene name)|psi-mi:UNC5C(display_short)|uniprotkb:UNC5H3(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:O95185-1(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:017DIujoFNwrZZnVrEGkOsUSVLU9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q86X29 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-1056946|uniprotkb:O00112|uniprotkb:O00426|uniprotkb:Q6ZT80|uniprotkb:Q9UQL3|uniprotkb:E9PHD4|uniprotkb:Q8NBM0|uniprotkb:Q9BT33|uniprotkb:B4DKL4|uniprotkb:A6NDW3|ensembl:ENSP00000354575|ensembl:ENSP00000480821|intact:EBI-10982122 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:lsr_human(display_long)|uniprotkb:LSR(gene name)|psi-mi:LSR(display_short)|uniprotkb:LISCH(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_991403.1|refseq:NP_001247418.1|refseq:NP_001247419.1|refseq:NP_057009.3|refseq:NP_991404.1|ensembl:ENSG00000105699(gene)|ensembl:ENST00000361790(transcript)|ensembl:ENST00000621372(transcript)|go:"GO:0001889"(liver development)|go:"GO:0005886"(plasma membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0034361"(very-low-density lipoprotein particle)|go:"GO:0034362"(low-density lipoprotein particle)|go:"GO:0035633"(maintenance of blood-brain barrier)|go:"GO:0042627"(chylomicron)|go:"GO:0060856"(establishment of blood-brain barrier)|go:"GO:0061436"(establishment of skin barrier)|go:"GO:0061689"(tricellular tight junction)|go:"GO:0061833"(protein localization to tricellular tight junction)|go:"GO:0070062"(extracellular exosome)|go:"GO:1904274"(tricellular tight junction assembly)|interpro:IPR003599(Immunoglobulin subtype)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR008664(LISCH7)|interpro:IPR036179|reactome:R-HSA-8964038|reactome:R-HSA-8964046 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:jCmNdVxzNBHEpWjKNqyq5e6yEjs9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P30825 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-4289564|uniprotkb:Q5JR50|ensembl:ENSP00000370128 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:sl7a1_human(display_long)|uniprotkb:SLC7A1(gene name)|psi-mi:SLC7A1(display_short)|uniprotkb:ATRC1(gene name synonym)|uniprotkb:ERR(gene name synonym)|uniprotkb:REC1L(gene name synonym)|uniprotkb:Ecotropic retroviral leukemia receptor homolog(gene name synonym)|uniprotkb:Ecotropic retrovirus receptor homolog(gene name synonym)|uniprotkb:Solute carrier family 7 member 1(gene name synonym)|uniprotkb:System Y+ basic amino acid transporter(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_003036.1|ensembl:ENSG00000139514(gene)|ensembl:ENST00000380752(transcript)|go:"GO:0000064"(L-ornithine transmembrane transporter activity)|go:"GO:0005290"(L-histidine transmembrane transporter activity)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006865"(amino acid transport)|go:"GO:0009925"(basal plasma membrane)|go:"GO:0015171"(amino acid transmembrane transporter activity)|go:"GO:0015174"(basic amino acid transmembrane transporter activity)|go:"GO:0015181"|go:"GO:0015189"(L-lysine transmembrane transporter activity)|go:"GO:0015807"(L-amino acid transport)|go:"GO:0015819"(lysine transport)|go:"GO:0015822"(ornithine transport)|go:"GO:0016020"(membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042102"(positive regulation of T cell proliferation)|go:"GO:0061459"(L-arginine transmembrane transporter activity)|go:"GO:0089718"(amino acid import across plasma membrane)|go:"GO:0097638"(L-arginine import across plasma membrane)|go:"GO:0150104"(transport across blood-brain barrier)|go:"GO:1903352"(L-ornithine transmembrane transport)|go:"GO:1903810"(L-histidine import across plasma membrane)|go:"GO:1903826"(L-arginine transmembrane transport)|go:"GO:1990822"(basic amino acid transmembrane transport)|interpro:IPR002293(Amino acid/polyamine transporter I)|interpro:IPR004755(Cationic amino acid transport permease)|interpro:IPR029485|reactome:R-HSA-352230|refseq:XP_005266564.1|refseq:XP_016876205.1 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:0Y2qLKGZJkRCQmCro2MEGj6tEr49606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q8IZJ1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-4409075|uniprotkb:Q5T3R9|uniprotkb:Q5T3S0|uniprotkb:Q86SN3|uniprotkb:Q8N1Y2|uniprotkb:Q9H9F3|ensembl:ENSP00000334329 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:unc5b_human(display_long)|uniprotkb:UNC5B(gene name)|psi-mi:UNC5B(display_short)|uniprotkb:P53RDL1(gene name synonym)|uniprotkb:UNC5H2(gene name synonym)|uniprotkb:Protein unc-5 homolog 2(gene name synonym)|uniprotkb:Protein unc-5 homolog B(gene name synonym)|uniprotkb:p53-regulated receptor for death and life protein 1(gene name synonym)|uniprotkb:UNQ1883/PRO4326(orf name) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_734465.2|refseq:NP_001231818.1|dip:DIP-46275N|ensembl:ENSG00000107731(gene)|ensembl:ENST00000335350(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0005042"(netrin receptor activity)|go:"GO:0005886"(plasma membrane)|go:"GO:0006915"(apoptotic process)|go:"GO:0007411"(axon guidance)|go:"GO:0014068"(positive regulation of phosphatidylinositol 3-kinase signaling)|go:"GO:0016021"(integral component of membrane)|go:"GO:0033564"(anterior/posterior axon guidance)|go:"GO:0043524"(negative regulation of neuron apoptotic process)|go:"GO:0045121"(membrane raft)|go:"GO:2001240"(negative regulation of extrinsic apoptotic signaling pathway in absence of ligand)|interpro:IPR000488(Death)|interpro:IPR000884(Thrombospondin, type I)|interpro:IPR000906(ZU5)|interpro:IPR003598(Immunoglobulin subtype 2)|interpro:IPR003599(Immunoglobulin subtype)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR011029(DEATH-like)|interpro:IPR013098(Immunoglobulin I-set)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR033772|interpro:IPR036179|interpro:IPR036383|interpro:IPR037936|interpro:IPR042156|reactome:R-HSA-373752|reactome:R-HSA-418886|reactome:R-HSA-418889 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:qgsg0FKcvNzdgB6RcnV9LKwPMbY9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9Y5Y0 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-9681535|uniprotkb:Q1HE16|uniprotkb:Q86XY9|uniprotkb:Q9NVR9|ensembl:ENSP00000355938 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:flvc1_human(display_long)|uniprotkb:FLVCR1(gene name)|psi-mi:FLVCR1(display_short)|uniprotkb:FLVCR(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_054772.1|ensembl:ENSG00000162769(gene)|ensembl:ENST00000366971(transcript)|go:"GO:0001568"(blood vessel development)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0005739"(mitochondrion)|go:"GO:0005743"(mitochondrial inner membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0006783"(heme biosynthetic process)|go:"GO:0006839"(mitochondrial transport)|go:"GO:0006879"(cellular iron ion homeostasis)|go:"GO:0015232"(heme transmembrane transporter activity)|go:"GO:0015886"(heme transport)|go:"GO:0016021"(integral component of membrane)|go:"GO:0020037"(heme binding)|go:"GO:0030218"(erythrocyte differentiation)|go:"GO:0035264"(multicellular organism growth)|go:"GO:0042733"(embryonic digit morphogenesis)|go:"GO:0043249"(erythrocyte maturation)|go:"GO:0046620"(regulation of organ growth)|go:"GO:0048536"(spleen development)|go:"GO:0048704"(embryonic skeletal system morphogenesis)|go:"GO:0060323"(head morphogenesis)|go:"GO:0097037"(heme export)|interpro:IPR011701(Major facilitator superfamily MFS-1)|interpro:IPR020846|interpro:IPR036259|mint:Q9Y5Y0|reactome:R-HSA-189451|reactome:R-HSA-917937 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:bb6L2akAjb64NgdW94M2I3uMhxQ9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q7KZI7-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-5456235|ensembl:ENSP00000385751 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q7kzi7-1(display_long)|uniprotkb:Alpha(isoform synonym)|uniprotkb:MARK2(gene name)|psi-mi:MARK2(display_short)|uniprotkb:EMK1(gene name synonym)|uniprotkb:ELKL motif kinase 1(gene name synonym)|uniprotkb:MAP/microtubule affinity-regulating kinase 2(gene name synonym)|uniprotkb:PAR1 homolog(gene name synonym)|uniprotkb:PAR1 homolog b(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-516560(isoform-parent)|ensembl:ENSG00000072518(gene)|ensembl:ENST00000402010(transcript) - - isoform-comment:Produced by alternative promoter usage. No experimental confirmation available. figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:yfUqSCu4bgkncBd6hRRg5pKkArc9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q14254 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-348613|ensembl:ENSP00000378368 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:flot2_human(display_long)|uniprotkb:FLOT2(gene name)|psi-mi:FLOT2(display_short)|uniprotkb:ESA1(gene name synonym)|uniprotkb:M17S1(gene name synonym)|uniprotkb:Epidermal surface antigen(gene name synonym)|uniprotkb:Membrane component chromosome 17 surface marker 1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_004466.2|ensembl:ENSG00000132589(gene)|go:"GO:0008544"(epidermis development)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0016020"(membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016600"(flotillin complex)|go:"GO:0030027"(lamellipodium)|go:"GO:0030139"(endocytic vesicle)|go:"GO:0031410"(cytoplasmic vesicle)|go:"GO:0031982"(vesicle)|go:"GO:0032839"(dendrite cytoplasm)|go:"GO:0035255"(ionotropic glutamate receptor binding)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0044291"(cell-cell contact zone)|go:"GO:0044860"(protein localization to plasma membrane raft)|go:"GO:0045661"(regulation of myoblast differentiation)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0050821"(protein stabilization)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0070062"(extracellular exosome)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0098937"(anterograde dendritic transport)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099029"(anchored component of presynaptic active zone membrane)|ensembl:ENST00000394908(transcript)|go:"GO:0001765"(membrane raft assembly)|go:"GO:0001931"(uropod)|go:"GO:0002020"(protease binding)|go:"GO:0002080"(acrosomal membrane)|go:"GO:0005768"(endosome)|go:"GO:0005886"(plasma membrane)|go:"GO:0005901"(caveola)|go:"GO:0005912"(adherens junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0007155"(cell adhesion)|go:"GO:0099072"(regulation of postsynaptic membrane neurotransmitter receptor levels)|go:"GO:1902992"(negative regulation of amyloid precursor protein catabolic process)|go:"GO:1903905"(positive regulation of establishment of T cell polarity)|interpro:IPR001107(Band 7 protein)|interpro:IPR027705|interpro:IPR031905|interpro:IPR036013|mint:Q14254|reactome:R-HSA-5213460|reactome:R-HSA-5675482|reactome:R-HSA-8849932|reactome:R-HSA-8980692|reactome:R-HSA-9013026|reactome:R-HSA-9013106|reactome:R-HSA-9696264|reactome:R-HSA-9696273|refseq:XP_016879883.1|refseq:XP_016879884.1 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:P9htlLzTYk+eDKKesqCEPe/1BJA9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P27448-5 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27069515|ensembl:ENSP00000411397 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:p27448-5(display_long)|uniprotkb:C-TAK1(gene name synonym)|uniprotkb:Cdc25C-associated protein kinase 1(gene name synonym)|uniprotkb:ELKL motif kinase 2(gene name synonym)|uniprotkb:Protein kinase STK10(gene name synonym)|uniprotkb:Ser/Thr protein kinase PAR-1(gene name synonym)|uniprotkb:Serine/threonine-protein kinase p78(gene name synonym)|uniprotkb:MARK3(gene name)|psi-mi:MARK3(display_short)|uniprotkb:CTAK1(gene name synonym)|uniprotkb:EMK2(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-707595(isoform-parent)|ensembl:ENSG00000075413(gene)|ensembl:ENST00000429436(transcript) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:YoMdp32OqT0OCgUUBwxSEHmA+vs9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9NW97 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-726044|uniprotkb:A8K819|intact:EBI-28982784|ensembl:ENSP00000365176|ensembl:ENSP00000365182|ensembl:ENSP00000383600|ensembl:ENSP00000394899 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:tmm51_human(display_long)|uniprotkb:TMEM51(gene name)|psi-mi:TMEM51(display_short)|uniprotkb:C1orf72(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001129688.1|refseq:NP_001129689.1|refseq:NP_001129690.1|refseq:NP_060492.1|ensembl:ENSP00000365176|ensembl:ENSP00000365182|ensembl:ENSP00000383600|ensembl:ENSP00000394899|refseq:XP_011539978.1|refseq:NP_001306594.1|refseq:XP_005245976.1|ensembl:ENSG00000171729(gene)|ensembl:ENST00000376008(transcript)|ensembl:ENST00000376014(transcript)|ensembl:ENST00000400796(transcript)|ensembl:ENST00000428417(transcript)|go:"GO:0016021"(integral component of membrane)|interpro:IPR029265|refseq:XP_016857079.1 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:D+zPUZqRR9fLJ2nvkP/jFdArrR89606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O00459 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-346930|uniprotkb:Q5EAT5|uniprotkb:Q9UPH9|intact:EBI-28974273|ensembl:ENSP00000222254 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:p85b_human(display_long)|uniprotkb:PIK3R2(gene name)|psi-mi:PIK3R2(display_short)|uniprotkb:Phosphatidylinositol 3-kinase 85 kDa regulatory subunit beta(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSP00000222254|refseq:NP_005018.1|dip:DIP-31811N|ensembl:ENSG00000105647(gene)|ensembl:ENST00000222254(transcript)|go:"GO:0001678"(cellular glucose homeostasis)|go:"GO:0001784"(phosphotyrosine residue binding)|go:"GO:0005634"(nucleus)|go:"GO:0005829"(cytosol)|go:"GO:0005942"(phosphatidylinositol 3-kinase complex)|go:"GO:0008286"(insulin receptor signaling pathway)|go:"GO:0010506"(regulation of autophagy)|go:"GO:0014065"(phosphatidylinositol 3-kinase signaling)|go:"GO:0015031"(protein transport)|go:"GO:0019903"(protein phosphatase binding)|go:"GO:0030971"(receptor tyrosine kinase binding)|go:"GO:0032869"(cellular response to insulin stimulus)|go:"GO:0034976"(response to endoplasmic reticulum stress)|go:"GO:0042307"(positive regulation of protein import into nucleus)|go:"GO:0043409"(negative regulation of MAPK cascade)|go:"GO:0043551"(regulation of phosphatidylinositol 3-kinase activity)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046854"(phosphatidylinositol phosphate biosynthetic process)|go:"GO:0046935"(1-phosphatidylinositol-3-kinase regulator activity)|go:"GO:0046982"(protein heterodimerization activity)|interpro:IPR000198(RhoGAP)|interpro:IPR000980(SH2 motif)|interpro:IPR001452(Src homology-3)|interpro:IPR008936(Rho GTPase activation protein)|rcsb pdb:6OX7|rcsb pdb:6U28|reactome:R-HSA-109704|reactome:R-HSA-112399|reactome:R-HSA-114604|reactome:R-HSA-1257604|reactome:R-HSA-1266695|reactome:R-HSA-1433557|reactome:R-HSA-1660499|reactome:R-HSA-186763|reactome:R-HSA-198203|interpro:IPR032498|interpro:IPR035020|interpro:IPR035022|interpro:IPR035586|interpro:IPR036028|interpro:IPR036860|mint:O00459|rcsb pdb:2KT1|rcsb pdb:2XS6|rcsb pdb:3MTT|rcsb pdb:3O5Z|reactome:R-HSA-202424|reactome:R-HSA-2029485|reactome:R-HSA-2219530|reactome:R-HSA-2424491|reactome:R-HSA-2730905|reactome:R-HSA-373753|reactome:R-HSA-388841|reactome:R-HSA-389357|reactome:R-HSA-416476|reactome:R-HSA-4420097|reactome:R-HSA-512988|reactome:R-HSA-5673001|reactome:R-HSA-6811558|reactome:R-HSA-8853659|reactome:R-HSA-8980692|reactome:R-HSA-9009391|reactome:R-HSA-9013026|reactome:R-HSA-9013148|reactome:R-HSA-9013149|reactome:R-HSA-210993|reactome:R-HSA-9013404|reactome:R-HSA-9013405|reactome:R-HSA-9013420|reactome:R-HSA-9013423|reactome:R-HSA-9035034|reactome:R-HSA-912526|reactome:R-HSA-912631|reactome:R-HSA-9670439|reactome:R-HSA-9673767|reactome:R-HSA-9673770|reactome:R-HSA-9696264|reactome:R-HSA-9696270|reactome:R-HSA-9696273|reactome:R-HSA-9013409 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:Ij0WS0eKPwShgFWQc7OEss7AcAU9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q6WKZ4-4 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27069507 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q6wkz4-4(display_long)|uniprotkb:RAB11FIP1(gene name)|psi-mi:RAB11FIP1(display_short)|uniprotkb:RCP(gene name synonym)|uniprotkb:Rab11-FIP 1B(isoform synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:Q6WKZ4-4(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:5q5W3XNBpdXFd6Ikjaj86SZ/5Zw9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P20020 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-5279998|uniprotkb:Q12992|uniprotkb:Q12993|uniprotkb:Q13819|uniprotkb:Q13820|uniprotkb:Q13821|uniprotkb:Q16504|uniprotkb:Q93082|ensembl:ENSP00000261173|ensembl:ENSP00000392043 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:at2b1_human(display_long)|uniprotkb:ATP2B1(gene name)|psi-mi:ATP2B1(display_short)|uniprotkb:PMCA1(gene name synonym)|uniprotkb:Plasma membrane calcium ATPase isoform 1(gene name synonym)|uniprotkb:Plasma membrane calcium pump isoform 1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:XP_011536709.1|refseq:NP_001001323.1|refseq:NP_001673.2|refseq:XP_016874847.1|reactome:R-HSA-9662360|ensembl:ENSG00000070961(gene)|ensembl:ENST00000261173(transcript)|ensembl:ENST00000428670(transcript)|go:"GO:0001772"(immunological synapse)|go:"GO:0001818"(negative regulation of cytokine production)|go:"GO:0003056"(regulation of vascular associated smooth muscle contraction)|go:"GO:0003407"(neural retina development)|go:"GO:0005388"(P-type calcium transporter activity)|go:"GO:0005516"(calmodulin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006874"(cellular calcium ion homeostasis)|go:"GO:0007420"(brain development)|go:"GO:0007568"(aging)|go:"GO:0008217"(regulation of blood pressure)|go:"GO:0009409"(response to cold)|go:"GO:0009898"(cytoplasmic side of plasma membrane)|go:"GO:0015085"(calcium ion transmembrane transporter activity)|go:"GO:0016020"(membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016324"(apical plasma membrane)|go:"GO:0019829"(ATPase-coupled cation transmembrane transporter activity)|go:"GO:0030165"(PDZ domain binding)|go:"GO:0030285"(integral component of synaptic vesicle membrane)|go:"GO:0030501"(positive regulation of bone mineralization)|go:"GO:0032591"(dendritic spine membrane)|go:"GO:0032809"(neuronal cell body membrane)|go:"GO:0034220"(ion transmembrane transport)|interpro:IPR022141|interpro:IPR023214|interpro:IPR023298|interpro:IPR023299|interpro:IPR030320|interpro:IPR036412|interpro:IPR044492|mint:P20020|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0045121"(membrane raft)|go:"GO:0046872"(metal ion binding)|rcsb pdb:6A69|reactome:R-HSA-418359|reactome:R-HSA-5578775|reactome:R-HSA-936837|go:"GO:0051480"(regulation of cytosolic calcium ion concentration)|go:"GO:0051481"(negative regulation of cytosolic calcium ion concentration)|go:"GO:0051928"(positive regulation of calcium ion transport)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071305"(cellular response to vitamin D)|go:"GO:0071386"(cellular response to corticosterone stimulus)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0099056"(integral component of presynaptic membrane)|go:"GO:0099059"(integral component of presynaptic active zone membrane)|go:"GO:0140603"(obsolete ATP hydrolysis activity)|go:"GO:1900076"(regulation of cellular response to insulin stimulus)|go:"GO:1903779"(regulation of cardiac conduction)|go:"GO:1905056"(P-type calcium transporter activity involved in regulation of presynaptic cytosolic calcium ion concentration)|go:"GO:1990034"(calcium ion export across plasma membrane)|interpro:IPR001757(ATPase, P-type, K/Mg/Cd/Cu/Zn/Na/Ca/Na/H-transporter)|interpro:IPR004014(ATPase, P-type cation-transporter, N-terminal)|interpro:IPR006068(ATPase, P-type cation-transporter, C-terminal)|interpro:IPR006408(Calcium-translocating P-type ATPase, PMCA-type)|interpro:IPR008250(E1-E2 ATPase-associated region)|interpro:IPR018303 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:kCpUNLYDF38hciXj32D8rXbXULg9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O14639-6 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27069499|ensembl:ENSP00000358260 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:o14639-6(display_long)|uniprotkb:Actin-binding LIM protein family member 1(gene name synonym)|uniprotkb:Actin-binding double zinc finger protein(gene name synonym)|uniprotkb:Limatin(gene name synonym)|uniprotkb:ABLIM1(gene name)|psi-mi:ABLIM1(display_short)|uniprotkb:ABLIM(gene name synonym)|uniprotkb:KIAA0059(gene name synonym)|uniprotkb:LIMAB1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000099204(gene)|ensembl:ENST00000369256(transcript)|intact:EBI-487024(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:WGg+TOfkKjlEHX4VhqV5o2pxpXw9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P08648 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-1382311|uniprotkb:Q96HA5|ensembl:ENSP00000293379 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:ita5_human(display_long)|uniprotkb:ITGA5(gene name)|psi-mi:ITGA5(display_short)|uniprotkb:FNRA(gene name synonym)|uniprotkb:Fibronectin receptor subunit alpha(gene name synonym)|uniprotkb:Integrin alpha-F(gene name synonym)|uniprotkb:VLA-5(gene name synonym)|uniprotkb:CD49 antigen-like family member E(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_002196.4|dip:DIP-40037N|ensembl:ENSG00000161638(gene)|ensembl:ENST00000293379(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0001618"(virus receptor activity)|go:"GO:0001726"(ruffle)|go:"GO:0005161"(platelet-derived growth factor receptor binding)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0007155"(cell adhesion)|go:"GO:0007229"(integrin-mediated signaling pathway)|go:"GO:0008305"(integrin complex)|go:"GO:0009986"(cell surface)|go:"GO:0023035"(CD40 signaling pathway)|go:"GO:0030949"(positive regulation of vascular endothelial growth factor receptor signaling pathway)|go:"GO:0031589"(cell-substrate adhesion)|go:"GO:0033627"(cell adhesion mediated by integrin)|go:"GO:0034113"(heterotypic cell-cell adhesion)|go:"GO:0034674"(integrin alpha5-beta1 complex)|go:"GO:0035313"(wound healing, spreading of epidermal cells)|go:"GO:0035987"(endodermal cell differentiation)|go:"GO:0043184"(vascular endothelial growth factor receptor 2 binding)|go:"GO:0046872"(metal ion binding)|go:"GO:0050731"(positive regulation of peptidyl-tyrosine phosphorylation)|go:"GO:0071062"(alphav-beta3 integrin-vitronectin complex)|go:"GO:1903672"(positive regulation of sprouting angiogenesis)|go:"GO:2000811"(negative regulation of anoikis)|interpro:IPR000413(Integrins alpha chain)|interpro:IPR013517(FG-GAP)|interpro:IPR013519(Integrin alpha beta-propellor)|interpro:IPR013649(Integrin alpha-2)|interpro:IPR018184|interpro:IPR028994|interpro:IPR032695|mint:P08648|rcsb pdb:3VI3|rcsb pdb:3VI4|rcsb pdb:4WJK|rcsb pdb:4WK0|rcsb pdb:4WK2|rcsb pdb:4WK4|rcsb pdb:7NWL|reactome:R-HSA-1566948|reactome:R-HSA-1566977|reactome:R-HSA-202733|reactome:R-HSA-216083|reactome:R-HSA-445144|reactome:R-HSA-8941332 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:Wv2ronpU6TmRP0kwlWisA2ObEbI9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P35613 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-750709|uniprotkb:Q7Z796|uniprotkb:Q8IZL7|intact:EBI-2553051|uniprotkb:A6NJW1|uniprotkb:D3YLG5|ensembl:ENSP00000333769 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:basi_human(display_long)|uniprotkb:Leukocyte activation antigen M6(gene name synonym)|uniprotkb:Collagenase stimulatory factor(gene name synonym)|uniprotkb:Extracellular matrix metalloproteinase inducer(gene name synonym)|uniprotkb:5F7(gene name synonym)|uniprotkb:Tumor cell-derived collagenase stimulatory factor(gene name synonym)|uniprotkb:OK blood group antigen(gene name synonym)|uniprotkb:BSG(gene name)|psi-mi:BSG(display_short)|uniprotkb:UNQ6505/PRO21383(orf name)|uniprotkb:Hepatoma-associated antigen(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001719.2|refseq:NP_940991.1|refseq:NP_940993.1|refseq:NP_001309172.1|refseq:NP_940992.1|refseq:XP_016882662.1|dip:DIP-50310N|ensembl:ENSG00000172270(gene)|ensembl:ENST00000333511(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0001525"(angiogenesis)|go:"GO:0001618"(virus receptor activity)|go:"GO:0001750"(photoreceptor outer segment)|go:"GO:0001917"(photoreceptor inner segment)|go:"GO:0002080"(acrosomal membrane)|go:"GO:0003407"(neural retina development)|go:"GO:0005537"(mannose binding)|go:"GO:0005739"(mitochondrion)|go:"GO:0005768"(endosome)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0007156"(homophilic cell adhesion via plasma membrane adhesion molecules)|go:"GO:0007166"(cell surface receptor signaling pathway)|go:"GO:0007411"(axon guidance)|go:"GO:0007566"(embryo implantation)|go:"GO:0010575"(positive regulation of vascular endothelial growth factor production)|go:"GO:0010595"(positive regulation of endothelial cell migration)|go:"GO:0016020"(membrane)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0030424"(axon)|go:"GO:0030593"(neutrophil chemotaxis)|go:"GO:0032755"(positive regulation of interleukin-6 production)|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042383"(sarcolemma)|go:"GO:0042470"(melanosome)|go:"GO:0042475"(odontogenesis of dentin-containing tooth)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0043434"(response to peptide hormone)|go:"GO:0045121"(membrane raft)|go:"GO:0045296"(cadherin binding)|go:"GO:0045494"(photoreceptor cell maintenance)|go:"GO:0046598"(positive regulation of viral entry into host cell)|go:"GO:0046689"(response to mercury ion)|go:"GO:0046697"(decidualization)|go:"GO:0051591"(response to cAMP)|go:"GO:0061154"(endothelial tube morphogenesis)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070593"(dendrite self-avoidance)|go:"GO:0072659"(protein localization to plasma membrane)|go:"GO:0098632"(cell-cell adhesion mediator activity)|go:"GO:1904466"(positive regulation of matrix metallopeptidase secretion)|interpro:IPR003598(Immunoglobulin subtype 2)|interpro:IPR003599(Immunoglobulin subtype)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR036179|interpro:IPR043204|interpro:IPR044157|mint:P35613|rcsb pdb:3B5H|rcsb pdb:3I84|rcsb pdb:3I85|rcsb pdb:3QQN|rcsb pdb:4U0Q|rcsb pdb:5X0T|rcsb pdb:5XF0|rcsb pdb:6LYY|rcsb pdb:6LZ0|rcsb pdb:7CKO|rcsb pdb:7CKR|rcsb pdb:7DA5|reactome:R-HSA-1474228|reactome:R-HSA-210991|reactome:R-HSA-216083|reactome:R-HSA-433692|reactome:R-HSA-5619070|reactome:R-HSA-70268|rcsb pdb:3QR2 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:jVbDR+TKBzTjXoxR4At6XQg59ZA9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q99808-2 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27069493 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q99808-2(display_long)|uniprotkb:SLC29A1(gene name)|psi-mi:SLC29A1(display_short)|uniprotkb:ENT1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:Q99808-2(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:VkAYIXkqrbRyKBoHi+8RKQj851s9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q96J84-2 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-3959494 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q96j84-2(display_long)|uniprotkb:KIRREL1(gene name)|psi-mi:KIRREL1(display_short)|uniprotkb:KIRREL(gene name synonym)|uniprotkb:Kin of irregular chiasm-like protein 1(gene name synonym)|uniprotkb:NEPH1(gene name synonym)|uniprotkb:Nephrin-like protein 1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-3988456(isoform-parent)|uniprotkb:Q96J84-2(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:XbIbn677GojlOYsdWxE9jDkRGYc9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P43121 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-2339969|uniprotkb:Q6ZTR2|uniprotkb:Q6PHR3|uniprotkb:O95812|uniprotkb:Q59E86|ensembl:ENSP00000264036 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:muc18_human(display_long)|uniprotkb:MCAM(gene name)|psi-mi:MCAM(display_short)|uniprotkb:MUC18(gene name synonym)|uniprotkb:Melanoma-associated antigen MUC18(gene name synonym)|uniprotkb:Melanoma cell adhesion molecule(gene name synonym)|uniprotkb:Melanoma-associated antigen A32(gene name synonym)|uniprotkb:S-endo 1 endothelial-associated antigen(gene name synonym)|uniprotkb:Cell surface glycoprotein P1H12(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_006491.2|dip:DIP-52791N|ensembl:ENSG00000076706(gene)|ensembl:ENST00000264036(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0003094"(glomerular filtration)|go:"GO:0005576"(extracellular region)|go:"GO:0005615"(extracellular space)|go:"GO:0005634"(nucleus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0007155"(cell adhesion)|go:"GO:0009653"(anatomical structure morphogenesis)|go:"GO:0009897"(external side of plasma membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030335"(positive regulation of cell migration)|go:"GO:0061042"(vascular wound healing)|interpro:IPR003598(Immunoglobulin subtype 2)|interpro:IPR003599(Immunoglobulin subtype)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR013106(Immunoglobulin V-set)|interpro:IPR013151(Immunoglobulin)|interpro:IPR013162(CD80-like, immunoglobulin C2-set)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR036179|rcsb pdb:6LYN|reactome:R-HSA-8980692|reactome:R-HSA-9013026|reactome:R-HSA-9013106|reactome:R-HSA-9013149|reactome:R-HSA-9013404|reactome:R-HSA-9013405|reactome:R-HSA-9013408|reactome:R-HSA-9013423|reactome:R-HSA-9035034 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:f2hDslNdU/yJ8Ni66Wnsr1YE7Uw9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P35240-2 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-1014505 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:p35240-2(display_long)|uniprotkb:NF2(gene name)|psi-mi:NF2(display_short)|uniprotkb:SCH(gene name synonym)|uniprotkb:Moesin-ezrin-radixin-like protein(gene name synonym)|uniprotkb:Neurofibromin-2(gene name synonym)|uniprotkb:Schwannomerlin(gene name synonym)|uniprotkb:Schwannomin(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-1014472(merl_human)|uniprotkb:P35240-2(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:Kbr6nUKfYdR92+LtMrYQs6mDp+A9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q8IUW5 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-11343385|uniprotkb:Q8NBK1|ensembl:ENSP00000313385|ensembl:ENSP00000398778 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:rell1_human(display_long)|uniprotkb:RELL1(gene name)|psi-mi:RELL1(display_short)|uniprotkb:PSEC0162(orf name) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001078868.1|refseq:NP_001078869.1|ensembl:ENSG00000181826(gene)|ensembl:ENST00000454158(transcript)|go:"GO:0005886"(plasma membrane)|go:"GO:0015630"(microtubule cytoskeleton)|go:"GO:0016021"(integral component of membrane)|go:"GO:1900745"(positive regulation of p38MAPK cascade)|interpro:IPR022248|interpro:IPR042315|ensembl:ENST00000314117(transcript) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:in0yR+RiPdt1RmVWn5x9ad0kcws9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q13433-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27069486|ensembl:ENSP00000269187|ensembl:ENSP00000465915 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q13433-1(display_long)|uniprotkb:Estrogen-regulated protein LIV-1(gene name synonym)|uniprotkb:Solute carrier family 39 member 6(gene name synonym)|uniprotkb:Zrt- and Irt-like protein 6(gene name synonym)|uniprotkb:SLC39A6(gene name)|psi-mi:SLC39A6(display_short)|uniprotkb:LIV1(gene name synonym)|uniprotkb:ZIP6(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000141424(gene)|ensembl:ENST00000269187(transcript)|ensembl:ENST00000590986(transcript)|intact:EBI-11343415(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:Ab1Ra9K7xoOlr7A7j9hd5gjAw9w9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P54760 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-702121|uniprotkb:Q9BTA5|uniprotkb:Q9BXP0|uniprotkb:B5A970|uniprotkb:B5A971|uniprotkb:B5A972|uniprotkb:Q7Z635|ensembl:ENSP00000350896 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:ephb4_human(display_long)|uniprotkb:Tyrosine-protein kinase TYRO11(gene name synonym)|uniprotkb:EPHB4(gene name)|psi-mi:EPHB4(display_short)|uniprotkb:HTK(gene name synonym)|uniprotkb:TYRO11(gene name synonym)|uniprotkb:Hepatoma transmembrane kinase(gene name synonym)|uniprotkb:MYK1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_004435.3|rcsb pdb:2VWW|rcsb pdb:2VWX|rcsb pdb:2VWY|rcsb pdb:2VWZ|rcsb pdb:2VX0|rcsb pdb:2VX1|rcsb pdb:2X9F|rcsb pdb:2XVD|rcsb pdb:2YN8|rcsb pdb:3ZEW|rcsb pdb:4AW5|rcsb pdb:4BB4|rcsb pdb:6FNI|rcsb pdb:6FNJ|rcsb pdb:6FNK|rcsb pdb:6FNL|rcsb pdb:6FNM|reactome:R-HSA-2682334|reactome:R-HSA-3928662|reactome:R-HSA-3928664|reactome:R-HSA-3928665|go:"GO:0003007"(heart morphogenesis)|go:"GO:0004714"(transmembrane receptor protein tyrosine kinase activity)|go:"GO:0005003"(ephrin receptor activity)|go:"GO:0005005"(transmembrane-ephrin receptor activity)|go:"GO:0005524"(ATP binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0007155"(cell adhesion)|go:"GO:0007169"(transmembrane receptor protein tyrosine kinase signaling pathway)|go:"GO:0007411"(axon guidance)|go:"GO:0033674"(positive regulation of kinase activity)|go:"GO:0043005"(neuron projection)|go:"GO:0043235"(receptor complex)|go:"GO:0046777"(protein autophosphorylation)|go:"GO:0048013"(ephrin receptor signaling pathway)|go:"GO:0070062"(extracellular exosome)|interpro:IPR000719(Protein kinase, core)|interpro:IPR001090(Ephrin receptor, ligand binding)|interpro:IPR001245(Tyrosine protein kinase)|interpro:IPR001426(Receptor tyrosine kinase, class V, conserved site)|interpro:IPR001660(Sterile alpha motif SAM)|interpro:IPR003961(Fibronectin, type III)|interpro:IPR008266(Tyrosine protein kinase, active site)|interpro:IPR008979(Galactose-binding like)|interpro:IPR009030(Growth factor, receptor)|interpro:IPR011009(Protein kinase-like)|interpro:IPR011641(GCC2 and GCC3)|interpro:IPR013761(Sterile alpha motif-type)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR016257(Tyrosine-protein kinase, ephrin receptor)|interpro:IPR017441(Protein kinase ATP binding, conserved site)|interpro:IPR020635|interpro:IPR027936|interpro:IPR034290|interpro:IPR036116|interpro:IPR037636|mint:P54760|rcsb pdb:2BBA|rcsb pdb:2E7H|rcsb pdb:2HLE|rcsb pdb:2QKQ|ensembl:ENSG00000196411(gene)|ensembl:ENST00000358173(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0002042"(cell migration involved in sprouting angiogenesis)|rcsb pdb:2VWU|rcsb pdb:2VWV - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:tpDaNm/4fKYTvUt4gneu97+0Cxw9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P78348-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-21514700 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:p783481(display_long)|uniprotkb:ASIC1(gene name)|psi-mi:ASIC1(display_short)|uniprotkb:ACCN2(gene name synonym)|uniprotkb:BNAC2(gene name synonym)|uniprotkb:Asic1b(isoform synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:P78348-1(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:y69CuYhZr5/jdIWOl67GEHYDWuo9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P23634-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27069477 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:p23634-1(display_long)|uniprotkb:Matrix-remodeling-associated protein 1(gene name synonym)|uniprotkb:Plasma membrane calcium ATPase isoform 4(gene name synonym)|uniprotkb:Plasma membrane calcium pump isoform 4(gene name synonym)|uniprotkb:AIICIV(isoform synonym)|uniprotkb:ATP2B4(gene name)|psi-mi:ATP2B4(display_short)|uniprotkb:ATP2B2(gene name synonym)|uniprotkb:MXRA1(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-1174388(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:XAjzRea7vq4vsbCVKdZRYIWvfBM9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O95490-5 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27069467|ensembl:ENSP00000359765|ensembl:ENSP00000501462 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:o95490-5(display_long)|uniprotkb:Calcium-independent alpha-latrotoxin receptor 2(gene name synonym)|uniprotkb:Latrophilin homolog 1(gene name synonym)|uniprotkb:Latrophilin-2(gene name synonym)|uniprotkb:Lectomedin-1(gene name synonym)|uniprotkb:ADGRL2(gene name)|psi-mi:ADGRL2(display_short)|uniprotkb:KIAA0786(gene name synonym)|uniprotkb:LEC1(gene name synonym)|uniprotkb:LPHH1(gene name synonym)|uniprotkb:LPHN2(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000117114(gene)|ensembl:ENST00000370730(transcript)|ensembl:ENST00000674419(transcript)|intact:EBI-2865302(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:IwZQ2OrsktJe/rjfz8gqspv6nwg9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q04721 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-2652733|uniprotkb:Q5T3X7|uniprotkb:Q99734|uniprotkb:Q9H240|ensembl:ENSP00000256646 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:notc2_human(display_long)|uniprotkb:NOTCH2(gene name)|psi-mi:NOTCH2(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001186930.1|refseq:NP_077719.2|go:"GO:0038023"(signaling receptor activity)|go:"GO:0042060"(wound healing)|go:"GO:0042742"(defense response to bacterium)|go:"GO:0043011"(myeloid dendritic cell differentiation)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0043235"(receptor complex)|go:"GO:0045672"(positive regulation of osteoclast differentiation)|go:"GO:0045967"(negative regulation of growth rate)|go:"GO:0046579"(positive regulation of Ras protein signal transduction)|go:"GO:0046849"(bone remodeling)|go:"GO:0051059"(NF-kappaB binding)|go:"GO:0051726"(regulation of cell cycle)|go:"GO:0060413"(atrial septum morphogenesis)|go:"GO:0060674"(placenta blood vessel development)|go:"GO:0061073"(ciliary body morphogenesis)|go:"GO:0061314"(Notch signaling involved in heart development)|go:"GO:0070374"(positive regulation of ERK1 and ERK2 cascade)|go:"GO:0070986"(left/right axis specification)|go:"GO:0072014"(proximal tubule development)|go:"GO:0072015"(glomerular visceral epithelial cell development)|go:"GO:0072104"(glomerular capillary formation)|go:"GO:0072574"(hepatocyte proliferation)|go:"GO:1990705"(cholangiocyte proliferation)|go:"GO:2000249"(regulation of actin cytoskeleton reorganization)|go:"GO:2001204"(regulation of osteoclast development)|interpro:IPR000152(Aspartic acid and asparagine hydroxylation site)|interpro:IPR000742(EGF-like, type 3)|interpro:IPR000800(Notch region)|interpro:IPR001881(EGF-like calcium-binding)|interpro:IPR002110(Ankyrin)|interpro:IPR008297(Notch)|interpro:IPR009030(Growth factor, receptor)|go:"GO:0035622"(intrahepatic bile duct development)|interpro:IPR011656(Notch, NODP region)|interpro:IPR013032(EGF-like region, conserved site)|interpro:IPR018097|interpro:IPR020683|interpro:IPR022336|interpro:IPR010660(Notch, NOD region)|interpro:IPR024600|interpro:IPR035993|interpro:IPR036770|mint:Q04721|rcsb pdb:2OO4|rcsb pdb:5MWB|reactome:R-HSA-1912399|reactome:R-HSA-1912408|reactome:R-HSA-1912420|reactome:R-HSA-2197563|reactome:R-HSA-2979096|reactome:R-HSA-350054|reactome:R-HSA-5083630|reactome:R-HSA-9013695|ensembl:ENSG00000134250(gene)|ensembl:ENST00000256646(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000139"(Golgi membrane)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0001709"(cell fate determination)|go:"GO:0001947"(heart looping)|go:"GO:0002011"(morphogenesis of an epithelial sheet)|go:"GO:0002315"(marginal zone B cell differentiation)|go:"GO:0002437"(inflammatory response to antigenic stimulus)|go:"GO:0003162"(atrioventricular node development)|go:"GO:0003184"(pulmonary valve morphogenesis)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005929"(cilium)|go:"GO:0006915"(apoptotic process)|go:"GO:0006959"(humoral immune response)|go:"GO:0007219"(Notch signaling pathway)|go:"GO:0007275"(multicellular organism development)|go:"GO:0007399"(nervous system development)|go:"GO:0007411"(axon guidance)|go:"GO:0009887"(animal organ morphogenesis)|go:"GO:0009986"(cell surface)|go:"GO:0010629"(negative regulation of gene expression)|go:"GO:0010838"(positive regulation of keratinocyte proliferation)|go:"GO:0016020"(membrane)|go:"GO:0019827"(stem cell population maintenance)|go:"GO:0019899"(enzyme binding)|go:"GO:0030097"(hemopoiesis)|go:"GO:0030326"(embryonic limb morphogenesis)|go:"GO:0030513"(positive regulation of BMP signaling pathway)|go:"GO:0035264"(multicellular organism growth) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:aXdQSGMwNJ7K0tA2kc3rRFysbIc9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q14160 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-357345|uniprotkb:Q6P496|uniprotkb:Q7Z5D1|uniprotkb:Q8WWV8|uniprotkb:Q96C69|uniprotkb:Q96GG1|ensembl:ENSP00000322938|ensembl:ENSP00000349486|ensembl:ENSP00000366756 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:scrib_human(display_long)|uniprotkb:SCRIB(gene name)|psi-mi:SCRIB(display_short)|uniprotkb:CRIB1(gene name synonym)|uniprotkb:KIAA0147(gene name synonym)|uniprotkb:LAP4(gene name synonym)|uniprotkb:SCRB1(gene name synonym)|uniprotkb:VARTUL(gene name synonym)|uniprotkb:Protein LAP4(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_056171.3|refseq:NP_874365.3|dip:DIP-31259N|ensembl:ENSG00000180900(gene)|ensembl:ENST00000320476(transcript)|ensembl:ENST00000356994(transcript)|ensembl:ENST00000377533(transcript)|go:"GO:0001768"(establishment of T cell polarity)|go:"GO:0001772"(immunological synapse)|go:"GO:0001843"(neural tube closure)|go:"GO:0001921"(positive regulation of receptor recycling)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005886"(plasma membrane)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005912"(adherens junction)|go:"GO:0008283"(cell population proliferation)|go:"GO:0014069"(postsynaptic density)|go:"GO:0016080"(synaptic vesicle targeting)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016477"(cell migration)|go:"GO:0021747"(cochlear nucleus development)|go:"GO:0030027"(lamellipodium)|go:"GO:0030054"(cell junction)|go:"GO:0030683"(mitigation of host immune response by virus)|go:"GO:0030859"(polarized epithelial cell differentiation)|go:"GO:0032729"(positive regulation of interferon-gamma production)|go:"GO:0034750"(Scrib-APC-beta-catenin complex)|go:"GO:0035089"(establishment of apical/basal cell polarity)|go:"GO:0035748"(myelin sheath abaxonal region)|go:"GO:0036342"(post-anal tail morphogenesis)|go:"GO:0039563"(suppression by virus of host JAK-STAT cascade via inhibition of STAT1 activity)|go:"GO:0039564"(suppression by virus of host JAK-STAT cascade via inhibition of STAT2 activity)|go:"GO:0042060"(wound healing)|go:"GO:0043065"(positive regulation of apoptotic process)|go:"GO:0043113"(receptor clustering)|go:"GO:0043615"(astrocyte cell migration)|go:"GO:0044291"(cell-cell contact zone)|go:"GO:0045197"(establishment or maintenance of epithelial cell apical/basal polarity)|go:"GO:0045296"(cadherin binding)|go:"GO:0045930"(negative regulation of mitotic cell cycle)|go:"GO:0046007"(negative regulation of activated T cell proliferation)|go:"GO:0048488"(synaptic vesicle endocytosis)|go:"GO:0050918"(positive chemotaxis)|go:"GO:0060088"(auditory receptor cell stereocilium organization)|go:"GO:0060561"(apoptotic process involved in morphogenesis)|go:"GO:0060603"(mammary gland duct morphogenesis)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071896"(protein localization to adherens junction)|go:"GO:0090630"(activation of GTPase activity)|go:"GO:0097120"(receptor localization to synapse)|go:"GO:0098609"(cell-cell adhesion)|go:"GO:0098793"(presynapse)|go:"GO:0098887"(neurotransmitter receptor transport, endosome to postsynaptic membrane)|go:"GO:0098968"(neurotransmitter receptor transport postsynaptic membrane to endosome)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0099147"(extrinsic component of postsynaptic density membrane)|go:"GO:0099149"(regulation of postsynaptic neurotransmitter receptor internalization)|interpro:IPR001478(PDZ/DHR/GLGF)|interpro:IPR001611(Leucine-rich repeat)|interpro:IPR003591(Leucine-rich repeat, typical subtype)|interpro:IPR032675|interpro:IPR036034|mint:Q14160|rcsb pdb:1UJU|rcsb pdb:1WHA|rcsb pdb:1X5Q|rcsb pdb:2W4F|rcsb pdb:4WYT|rcsb pdb:4WYU|rcsb pdb:5VWC|rcsb pdb:5VWI|rcsb pdb:5VWK|rcsb pdb:6EEY|rcsb pdb:6ESP|rcsb pdb:6MS1|rcsb pdb:6MTU|rcsb pdb:6MTV|rcsb pdb:6MYE|rcsb pdb:6MYF|rcsb pdb:6XA6|rcsb pdb:6XA7|rcsb pdb:6XA8|rcsb pdb:7JO7|reactome:R-HSA-4608870|reactome:R-HSA-9013148|reactome:R-HSA-9013406|reactome:R-HSA-9013409|reactome:R-HSA-9696264|reactome:R-HSA-9696270 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:y4lIQ2NivmndHYd/JXSKvU2jv+w9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q12959-9 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27069462|ensembl:ENSP00000396658 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q12959-9(display_long)|uniprotkb:Synapse-associated protein 97(gene name synonym)|uniprotkb:hDlg(gene name synonym)|uniprotkb:DLG1(gene name)|psi-mi:DLG1(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000075711(gene)|ensembl:ENST00000443183(transcript)|intact:EBI-357481(isoform-parent)|uniprotkb:Q12959-9(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:qbngSoi7nAL4MQHPnfM9R4KZgXE9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9P0L2-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27069455 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q9p0l2-1(display_long)|uniprotkb:MARK1(gene name)|psi-mi:MARK1(display_short)|uniprotkb:KIAA1477(gene name synonym)|uniprotkb:MARK(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:Q9P0L2-1(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:/ydFAiGjuUcmwDHO4tEPSSMlVjY9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q8TF44 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27069438|ensembl:ENSP00000328677|uniprotkb:Q8N3H7 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:c2c4c_human(display_long)|uniprotkb:C2CD4C(gene name)|psi-mi:C2CD4C(display_short)|uniprotkb:FAM148C(gene name synonym)|uniprotkb:KIAA1957(gene name synonym)|uniprotkb:NLF3(gene name synonym)|uniprotkb:Nuclear-localized factor 3(gene name synonym)|uniprotkb:Protein FAM148C(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000183186(gene)|ensembl:ENST00000332235(transcript)|go:"GO:0005829"(cytosol)|interpro:IPR000008(C2 calcium-dependent membrane targeting)|interpro:IPR030533|interpro:IPR035892|interpro:IPR043549|refseq:NP_001129735.1 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:ZGCDL53bKXdH4ftcvfL6wSiUEB09606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9HAU0-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27069429|ensembl:ENSP00000299275 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q9hau0-1(display_long)|uniprotkb:Phosphoinositol 3-phosphate-binding protein 2(gene name synonym)|uniprotkb:S(isoform synonym)|uniprotkb:PLEKHA5(gene name)|psi-mi:PLEKHA5(display_short)|uniprotkb:KIAA1686(gene name synonym)|uniprotkb:PEPP2(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 intact:EBI-945934(isoform-parent)|ensembl:ENSG00000052126(gene)|ensembl:ENST00000299275(transcript) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:22W2zdIwTLw4nNRh0dHasYDCLK49606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9ULF5 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-2823223|uniprotkb:B4DGU0|uniprotkb:A8K5C6|uniprotkb:Q3MJA4|uniprotkb:Q6DKH6|uniprotkb:Q68CR5|uniprotkb:Q9Y3Z1|ensembl:ENSP00000352655|ensembl:ENSP00000386766 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:s39aa_human(display_long)|uniprotkb:SLC39A10(gene name)|psi-mi:SLC39A10(display_short)|uniprotkb:KIAA1265(gene name synonym)|uniprotkb:ZIP10(gene name synonym)|uniprotkb:Solute carrier family 39 member 10(gene name synonym)|uniprotkb:Zrt- and Irt-like protein 10(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:XP_011509806.1|refseq:XP_011509807.1|refseq:XP_011509808.1|refseq:XP_005246746.2|refseq:NP_001120729.1|refseq:NP_065075.1|ensembl:ENSG00000196950(gene)|ensembl:ENST00000359634(transcript)|ensembl:ENST00000409086(transcript)|go:"GO:0002903"(negative regulation of B cell apoptotic process)|go:"GO:0005385"(zinc ion transmembrane transporter activity)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006882"(cellular zinc ion homeostasis)|go:"GO:0030890"(positive regulation of B cell proliferation)|go:"GO:0050861"(positive regulation of B cell receptor signaling pathway)|go:"GO:0071578"(zinc ion import across plasma membrane)|go:"GO:1903615"(positive regulation of protein tyrosine phosphatase activity)|interpro:IPR003689(Zinc/iron permease)|reactome:R-HSA-442380 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:j7A/tPe/lJCOscfBZhF1mSe99k09606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9C0B5 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-2799626|uniprotkb:Q8TAK8|uniprotkb:Q9H923|uniprotkb:Q9UFI7|uniprotkb:Q6ZMF0|uniprotkb:Q2TGF0|ensembl:ENSP00000287169 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:zdhc5_human(display_long)|uniprotkb:KIAA1748(gene name synonym)|uniprotkb:ZNF375(gene name synonym)|uniprotkb:Zinc finger DHHC domain-containing protein 5(gene name synonym)|uniprotkb:Zinc finger protein 375(gene name synonym)|uniprotkb:ZDHHC5(gene name)|psi-mi:ZDHHC5(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:XP_011543201.1|refseq:XP_011543202.1|refseq:XP_011543203.1|refseq:NP_056272.2|ensembl:ENSG00000156599(gene)|ensembl:ENST00000287169(transcript)|go:"GO:0005886"(plasma membrane)|go:"GO:0016020"(membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016409"(palmitoyltransferase activity)|go:"GO:0018345"(protein palmitoylation)|go:"GO:0019706"(protein-cysteine S-palmitoyltransferase activity)|go:"GO:0030425"(dendrite)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0062208"(positive regulation of pattern recognition receptor signaling pathway)|go:"GO:1903078"(positive regulation of protein localization to plasma membrane)|go:"GO:1905171"(positive regulation of protein localization to phagocytic vesicle)|interpro:IPR001594(Zinc finger, DHHC-type) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:4EKCQeKXifPU/7fv6uPuHE7b1rU9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q8WU20 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-1104330|uniprotkb:O43558|uniprotkb:Q7LDQ6|uniprotkb:B0LPF2|uniprotkb:B2R684|ensembl:ENSP00000381083|ensembl:ENSP00000447241|ensembl:ENSP00000450048 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:frs2_human(display_long)|uniprotkb:FRS2(gene name)|psi-mi:FRS2(display_short)|uniprotkb:Suc1-associated neurotrophic factor target 1(gene name synonym)|uniprotkb:FGFR-signaling adaptor SNT(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000166225(gene)|ensembl:ENST00000397997(transcript)|ensembl:ENST00000549921(transcript)|ensembl:ENST00000550389(transcript)|go:"GO:0001702"(gastrulation with mouth forming second)|go:"GO:0001759"(organ induction)|go:"GO:0003281"(ventricular septum development)|go:"GO:0005068"(transmembrane receptor protein tyrosine kinase adaptor activity)|go:"GO:0005104"(fibroblast growth factor receptor binding)|go:"GO:0005168"(neurotrophin TRKA receptor binding)|go:"GO:0005829"(cytosol)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0007185"(transmembrane receptor protein tyrosine phosphatase signaling pathway)|go:"GO:0007405"(neuroblast proliferation)|go:"GO:0007186"(G protein-coupled receptor signaling pathway)|go:"GO:0008543"(fibroblast growth factor receptor signaling pathway)|go:"GO:0008595"(anterior/posterior axis specification, embryo)|go:"GO:0012505"(endomembrane system)|go:"GO:0016020"(membrane)|go:"GO:0019211"(phosphatase activator activity)|go:"GO:0030900"(forebrain development)|go:"GO:0042981"(regulation of apoptotic process)|go:"GO:0043410"(positive regulation of MAPK cascade)|go:"GO:0046619"(lens placode formation involved in camera-type eye formation)|go:"GO:0050678"(regulation of epithelial cell proliferation)|go:"GO:0060527"(prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis)|go:"GO:0070307"(lens fiber cell development)|go:"GO:0070372"(regulation of ERK1 and ERK2 cascade)|go:"GO:2000726"(negative regulation of cardiac muscle cell differentiation)|interpro:IPR002404(Insulin receptor substrate-1, PTB)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR038742|mint:Q8WU20|rcsb pdb:1XR0|rcsb pdb:2MFQ|reactome:R-HSA-109704|reactome:R-HSA-1257604|reactome:R-HSA-170968|reactome:R-HSA-2219530|reactome:R-HSA-5654689|reactome:R-HSA-5654693|reactome:R-HSA-5654695|reactome:R-HSA-5654700|reactome:R-HSA-5654706|reactome:R-HSA-5654710|reactome:R-HSA-5654712|reactome:R-HSA-5654720|reactome:R-HSA-5654726|reactome:R-HSA-5654727|reactome:R-HSA-5654732|reactome:R-HSA-5654733|reactome:R-HSA-5655253|reactome:R-HSA-5655291|reactome:R-HSA-5655302|reactome:R-HSA-5673001|reactome:R-HSA-6811558|reactome:R-HSA-8853334|reactome:R-HSA-8853338|reactome:R-HSA-8853659|reactome:R-HSA-9028731|reactome:R-HSA-9696270|reactome:R-HSA-9696273|refseq:NP_001036020.1|refseq:NP_006645.3|refseq:NP_001265280.1|refseq:NP_001265282.1|refseq:NP_001265283.1|refseq:NP_001265284.1|refseq:NP_001265285.1|refseq:NP_001265286.1|refseq:XP_016874206.1|refseq:XP_016874207.1|refseq:XP_016874208.1 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:7tSNEY7uVWJZtQ3l1zd1xhkaoUU9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q13740-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27069423 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q13740-1(display_long)|uniprotkb:ALCAM(gene name)|psi-mi:ALCAM(display_short)|uniprotkb:MEMD(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 uniprotkb:Q13740-1(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:AeEe9Dgahkd2J+WgCygMjaKZpfY9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9HCM4 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-1047162|uniprotkb:Q8IZ12|uniprotkb:Q9H975|uniprotkb:Q7Z5S1|ensembl:ENSP00000263713 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:e41l5_human(display_long)|uniprotkb:KIAA1548(gene name synonym)|uniprotkb:EPB41L5(gene name)|psi-mi:EPB41L5(display_short)|uniprotkb:Erythrocyte membrane protein band 4.1-like 5(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001171866.1|refseq:NP_001171867.1|refseq:NP_001171868.1|refseq:NP_065960.2|refseq:NP_001317239.1|ensembl:ENSG00000115109(gene)|ensembl:ENST00000263713(transcript)|go:"GO:0001701"(in utero embryonic development)|go:"GO:0001837"(epithelial to mesenchymal transition)|go:"GO:0001839"(neural plate morphogenesis)|go:"GO:0001917"(photoreceptor inner segment)|go:"GO:0003383"(apical constriction)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0006931"(substrate-dependent cell migration, cell attachment to substrate)|go:"GO:0007398"(ectoderm development)|go:"GO:0007492"(endoderm development)|go:"GO:0007509"(mesoderm migration involved in gastrulation)|go:"GO:0008092"(cytoskeletal protein binding)|go:"GO:0009826"(unidimensional cell growth)|go:"GO:0010608"(posttranscriptional regulation of gene expression)|go:"GO:0010634"(positive regulation of epithelial cell migration)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0022408"(negative regulation of cell-cell adhesion)|go:"GO:0031032"(actomyosin structure organization)|go:"GO:0032091"(negative regulation of protein binding)|go:"GO:0032092"(positive regulation of protein binding)|go:"GO:0032525"(somite rostral/caudal axis specification)|go:"GO:0032587"(ruffle membrane)|go:"GO:0048319"(axial mesoderm morphogenesis)|go:"GO:0048339"(paraxial mesoderm development)|go:"GO:0048617"(embryonic foregut morphogenesis)|go:"GO:0051894"(positive regulation of focal adhesion assembly)|go:"GO:0070201"(regulation of establishment of protein localization)|go:"GO:0070986"(left/right axis specification)|go:"GO:0071560"(cellular response to transforming growth factor beta stimulus)|interpro:IPR000299(Band 4.1, N-terminal)|interpro:IPR000798(Ezrin/radixin/moesin ERM)|interpro:IPR011993(Pleckstrin homology-type)|interpro:IPR014352(FERM/acyl-CoA-binding protein, 3-helical bundle)|interpro:IPR014847("FERM adjacent (FA)")|interpro:IPR018979|interpro:IPR018980|interpro:IPR019747|interpro:IPR019748|interpro:IPR019749|interpro:IPR029071|interpro:IPR030694|interpro:IPR035963|reactome:R-HSA-6794361 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:CJuB1zHpmsK3te4K5lBNrL5tyxc9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q99755-3 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27069417|ensembl:ENSP00000271663 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q99755-3(display_long)|uniprotkb:68 kDa type I phosphatidylinositol 4-phosphate 5-kinase alpha(gene name synonym)|uniprotkb:Phosphatidylinositol 4-phosphate 5-kinase type I alpha(gene name synonym)|uniprotkb:PIP5KIalpha1(isoform synonym)|uniprotkb:PIP5K1A(gene name)|psi-mi:PIP5K1A(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000143398(gene)|ensembl:ENST00000349792(transcript)|intact:EBI-726414(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:LWLMtNR8cD2zwLI5Bgf2ZwChgFY9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q00587-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27069409|ensembl:ENSP00000249014 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q00587-1(display_long)|uniprotkb:Binder of Rho GTPases 5(gene name synonym)|uniprotkb:Serum protein MSE55(gene name synonym)|uniprotkb:CDC42EP1(gene name)|psi-mi:CDC42EP1(display_short)|uniprotkb:BORG5(gene name synonym)|uniprotkb:CEP1(gene name synonym)|uniprotkb:MSE55(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000128283(gene)|ensembl:ENST00000249014(transcript)|intact:EBI-744130(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:Ros/Dvfb6rdmhUyT755WtSswQjQ9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:P07948-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-6895930|ensembl:ENSP00000428924 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:p07948-1(display_long)|uniprotkb:LYN A(isoform synonym)|uniprotkb:p56lyn(isoform synonym)|uniprotkb:LYN(gene name)|psi-mi:LYN(display_short)|uniprotkb:JTK8(gene name synonym)|uniprotkb:Lck/Yes-related novel protein tyrosine kinase(gene name synonym)|uniprotkb:V-yes-1 Yamaguchi sarcoma viral related oncogene homolog(gene name synonym)|uniprotkb:p53Lyn(gene name synonym)|uniprotkb:p56Lyn(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000254087(gene)|ensembl:ENST00000519728(transcript)|intact:EBI-79452(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:SqXPSC+g2ZuGHy6TAPV4HcpXe6U9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q5VUB5 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-2682893|uniprotkb:Q8N4I0|uniprotkb:Q32M49|uniprotkb:D3DRT9|ensembl:ENSP00000367356 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:f1711_human(display_long)|uniprotkb:APCN(gene name synonym)|uniprotkb:C10orf38(gene name synonym)|uniprotkb:Astroprincin(gene name synonym)|uniprotkb:FAM171A1(gene name)|psi-mi:FAM171A1(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001010924.1|ensembl:ENSG00000148468(gene)|ensembl:ENST00000378116(transcript)|go:"GO:0005886"(plasma membrane)|go:"GO:0008360"(regulation of cell shape)|go:"GO:0016021"(integral component of membrane)|go:"GO:0043149"(stress fiber assembly)|interpro:IPR018890 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:qZ5OSbTW7Jiy72ZLCSXrEBp0epU9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q8N350 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-9355611|uniprotkb:K7EJP2|uniprotkb:O43385|ensembl:ENSP00000497208 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:cbarp_human(display_long)|uniprotkb:CBARP(gene name)|psi-mi:CBARP(display_short)|uniprotkb:C19orf26(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_689982.3|ensembl:ENSG00000099625(gene)|ensembl:ENST00000650044(transcript)|go:"GO:0005886"(plasma membrane)|go:"GO:0016021"(integral component of membrane)|go:"GO:0030141"(secretory granule)|go:"GO:0030426"(growth cone)|go:"GO:0030672"(synaptic vesicle membrane)|go:"GO:0044325"(transmembrane transporter binding)|go:"GO:0045955"(negative regulation of calcium ion-dependent exocytosis)|go:"GO:1901386"(negative regulation of voltage-gated calcium channel activity)|go:"GO:1903170"(negative regulation of calcium ion transmembrane transport)|interpro:IPR037658 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:AD9O8VR16q3RtzfVW+swKJFD5eg9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9BX67 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-4314733|uniprotkb:Q8WWL8|uniprotkb:Q96FL1|uniprotkb:B3KWG9|ensembl:ENSP00000299106 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:jam3_human(display_long)|uniprotkb:JAM3(gene name)|psi-mi:JAM3(display_short)|uniprotkb:JAM-2(gene name synonym)|uniprotkb:Junctional adhesion molecule 3(gene name synonym)|uniprotkb:UNQ859/PRO1868(orf name) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_116190.3|refseq:NP_001192258.1|go:"GO:0002523"(leukocyte migration involved in inflammatory response)|go:"GO:0002693"(positive regulation of cellular extravasation)|go:"GO:0005178"(integrin binding)|go:"GO:0005615"(extracellular space)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0005902"(microvillus)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005923"(bicellular tight junction)|go:"GO:0007160"(cell-matrix adhesion)|go:"GO:0007286"(spermatid development)|go:"GO:0019226"(transmission of nerve impulse)|go:"GO:0030010"(establishment of cell polarity)|go:"GO:0030057"(desmosome)|go:"GO:0031103"(axon regeneration)|go:"GO:0031941"(filamentous actin)|go:"GO:0033010"(paranodal junction)|go:"GO:0033624"(negative regulation of integrin activation)|go:"GO:0033629"(negative regulation of cell adhesion mediated by integrin)|go:"GO:0034113"(heterotypic cell-cell adhesion)|go:"GO:0034333"(adherens junction assembly)|go:"GO:0034394"(protein localization to cell surface)|go:"GO:0035633"(maintenance of blood-brain barrier)|go:"GO:0042552"(myelination)|go:"GO:0042803"(protein homodimerization activity)|go:"GO:0043220"(Schmidt-Lanterman incisure)|go:"GO:0044291"(cell-cell contact zone)|go:"GO:0045176"(apical protein localization)|go:"GO:0046982"(protein heterodimerization activity)|go:"GO:0070160"(tight junction)|go:"GO:0090022"(regulation of neutrophil chemotaxis)|go:"GO:0090138"(regulation of actin cytoskeleton organization by cell-cell adhesion)|go:"GO:0097241"(hematopoietic stem cell migration to bone marrow)|go:"GO:0097530"(granulocyte migration)|go:"GO:0098609"(cell-cell adhesion)|go:"GO:0002318"(myeloid progenitor cell differentiation)|go:"GO:0098632"(cell-cell adhesion mediator activity)|go:"GO:0098636"(protein complex involved in cell adhesion)|go:"GO:1902414"(protein localization to cell junction)|go:"GO:1905710"(positive regulation of membrane permeability)|interpro:IPR003598(Immunoglobulin subtype 2)|interpro:IPR003599(Immunoglobulin subtype)|interpro:IPR007110(Immunoglobulin-like)|interpro:IPR013106(Immunoglobulin V-set)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR036179|interpro:IPR042974|mint:Q9BX67|reactome:R-HSA-202733|reactome:R-HSA-216083|ensembl:ENSG00000166086(gene)|ensembl:ENST00000299106(transcript)|go:"GO:0001525"(angiogenesis)|go:"GO:0001780"(neutrophil homeostasis)|go:"GO:0002250"(adaptive immune response) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:EQBYrNTCG/k3qICRf5Yk89PZfGU9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:O95297-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27069401|ensembl:ENSP00000352513 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:o95297-1(display_long)|uniprotkb:Protein zero-related(gene name synonym)|uniprotkb:UNQ849/PRO1787(orf name)|uniprotkb:MPZL1a(isoform synonym)|uniprotkb:MPZL1(gene name)|psi-mi:MPZL1(display_short)|uniprotkb:PZR(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000197965(gene)|ensembl:ENST00000359523(transcript)|intact:EBI-963338(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:NdvJG6RocnCX10KdIhiJ9LmwMNs9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q14118 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-1755945|uniprotkb:A8K6M7|uniprotkb:Q969J9|ensembl:ENSP00000312435|ensembl:ENSP00000438421|ensembl:ENSP00000439334|ensembl:ENSP00000440590|ensembl:ENSP00000440705|ensembl:ENSP00000442600|ensembl:ENSP00000501140 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:dag1_human(display_long)|uniprotkb:DAG1(gene name)|psi-mi:DAG1(display_short)|uniprotkb:Dystrophin-associated glycoprotein 1(gene name synonym)|uniprotkb:Dystroglycan(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001159400.2|refseq:NP_001171105.1|refseq:NP_001171106.1|refseq:NP_001171107.1|refseq:NP_001171108.1|refseq:NP_001171109.1|refseq:NP_001171110.1|refseq:NP_001171111.1|refseq:NP_001171112.1|refseq:NP_001171113.1|refseq:NP_001171114.1|refseq:NP_001171115.1|refseq:NP_004384.4|ensembl:ENSP00000312435|ensembl:ENSP00000440705|ensembl:ENSP00000438421|ensembl:ENSP00000439334|ensembl:ENSP00000440590|ensembl:ENSP00000442600|ensembl:ENSP00000501140|dip:DIP-40928N|ensembl:ENSG00000173402(gene)|ensembl:ENST00000308775(transcript)|ensembl:ENST00000515359(transcript)|ensembl:ENST00000538711(transcript)|ensembl:ENST00000539901(transcript)|ensembl:ENST00000541308(transcript)|ensembl:ENST00000545947(transcript)|ensembl:ENST00000673708(transcript)|go:"GO:0001618"(virus receptor activity)|go:"GO:0001954"(positive regulation of cell-matrix adhesion)|go:"GO:0002009"(morphogenesis of an epithelium)|go:"GO:0002011"(morphogenesis of an epithelial sheet)|go:"GO:0002162"(dystroglycan binding)|go:"GO:0003779"(actin binding)|go:"GO:0005509"(calcium ion binding)|go:"GO:0005576"(extracellular region)|go:"GO:0005604"(basement membrane)|go:"GO:0005615"(extracellular space)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005788"(endoplasmic reticulum lumen)|go:"GO:0005796"(Golgi lumen)|go:"GO:0005829"(cytosol)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0005912"(adherens junction)|go:"GO:0005925"(focal adhesion)|go:"GO:0006509"(membrane protein ectodomain proteolysis)|go:"GO:0007411"(axon guidance)|go:"GO:0007568"(aging)|go:"GO:0008307"(structural constituent of muscle)|go:"GO:0009897"(external side of plasma membrane)|go:"GO:0010470"(regulation of gastrulation)|go:"GO:0010717"(regulation of epithelial to mesenchymal transition)|go:"GO:0014894"(response to denervation involved in regulation of muscle adaptation)|go:"GO:0015631"(tubulin binding)|go:"GO:0016010"(dystrophin-associated glycoprotein complex)|go:"GO:0016011"(dystroglycan complex)|go:"GO:0016021"(integral component of membrane)|go:"GO:0016203"(muscle attachment)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0016340"(calcium-dependent cell-matrix adhesion)|go:"GO:0016476"(regulation of embryonic cell shape)|go:"GO:0017166"(vinculin binding)|go:"GO:0019048"(modulation by virus of host process)|go:"GO:0021675"(nerve development)|go:"GO:0021682"(nerve maturation)|go:"GO:0022011"(myelination in peripheral nervous system)|go:"GO:0030027"(lamellipodium)|go:"GO:0030175"(filopodium)|go:"GO:0030336"(negative regulation of cell migration)|go:"GO:0031103"(axon regeneration)|go:"GO:0031643"(positive regulation of myelination)|go:"GO:0033268"(node of Ranvier)|go:"GO:0034399"(nuclear periphery)|go:"GO:0034453"(microtubule anchoring)|go:"GO:0042169"(SH2 domain binding)|go:"GO:0042383"(sarcolemma)|go:"GO:0043034"(costamere)|go:"GO:0043231"(intracellular membrane-bounded organelle)|go:"GO:0043236"(laminin binding)|go:"GO:0043237"(laminin-1 binding)|go:"GO:0043403"(skeletal muscle tissue regeneration)|go:"GO:0043409"(negative regulation of MAPK cascade)|go:"GO:0043434"(response to peptide hormone)|go:"GO:0044853"(plasma membrane raft)|go:"GO:0045211"(postsynaptic membrane)|go:"GO:0045860"(positive regulation of protein kinase activity)|go:"GO:0048714"(positive regulation of oligodendrocyte differentiation)|go:"GO:0050807"(regulation of synapse organization)|go:"GO:0051393"(alpha-actinin binding)|go:"GO:0051898"(negative regulation of protein kinase B signaling)|go:"GO:0060055"(angiogenesis involved in wound healing)|go:"GO:0060441"(epithelial tube branching involved in lung morphogenesis)|go:"GO:0060445"(branching involved in salivary gland morphogenesis)|go:"GO:0062023"(collagen-containing extracellular matrix)|go:"GO:0070062"(extracellular exosome)|go:"GO:0070938"(contractile ring)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071397"(cellular response to cholesterol)|go:"GO:0071679"(commissural neuron axon guidance)|go:"GO:0071711"(basement membrane organization)|go:"GO:0098696"(regulation of neurotransmitter receptor localization to postsynaptic specialization membrane)|go:"GO:0098942"(retrograde trans-synaptic signaling by trans-synaptic protein complex)|go:"GO:0098978"(glutamatergic synapse)|go:"GO:0098982"(GABA-ergic synapse)|go:"GO:0099524"(postsynaptic cytosol)|go:"GO:1904261"(positive regulation of basement membrane assembly involved in embryonic body morphogenesis)|interpro:IPR006644(Dystroglycan-type cadherin-like)|interpro:IPR008465(Dystroglycan)|interpro:IPR013783(Immunoglobulin-like fold)|interpro:IPR015919(Cadherin-like)|interpro:IPR027468|interpro:IPR030398|interpro:IPR041631|rcsb pdb:1EG4|rcsb pdb:2MK7|rcsb pdb:5GGP|rcsb pdb:5LLK|rcsb pdb:6JJY|reactome:R-HSA-3000171|reactome:R-HSA-3000178|reactome:R-HSA-5083628|reactome:R-HSA-5083629|reactome:R-HSA-5083633|reactome:R-HSA-5173105|reactome:R-HSA-9010553|reactome:R-HSA-9619665 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:q+98wmc5ueyzkpOCrold06eukRg9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q99569 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-726447|uniprotkb:Q86W91|ensembl:ENSP00000374409 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:pkp4_human(display_long)|uniprotkb:p0071(gene name synonym)|uniprotkb:PKP4(gene name)|psi-mi:PKP4(display_short) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 refseq:NP_001005476.1|refseq:NP_003619.2|refseq:NP_001291898.1|refseq:NP_001291899.1|refseq:XP_011510318.1|ensembl:ENST00000389757|ensembl:ENSP00000374407|ensembl:ENSP00000374409|ensembl:ENSG00000144283(gene)|ensembl:ENST00000389759(transcript)|go:"GO:0000922"(spindle pole)|go:"GO:0001533"(cornified envelope)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005886"(plasma membrane)|go:"GO:0005911"(cell-cell junction)|go:"GO:0005912"(adherens junction)|go:"GO:0007043"(cell-cell junction assembly)|go:"GO:0007267"(cell-cell signaling)|go:"GO:0009898"(cytoplasmic side of plasma membrane)|go:"GO:0014069"(postsynaptic density)|go:"GO:0030054"(cell junction)|go:"GO:0030057"(desmosome)|go:"GO:0030155"(regulation of cell adhesion)|go:"GO:0030496"(midbody)|go:"GO:0032467"(positive regulation of cytokinesis)|go:"GO:0043547"(positive regulation of GTPase activity)|go:"GO:0045296"(cadherin binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051233"(spindle midzone)|go:"GO:0072686"(mitotic spindle)|go:"GO:0098609"(cell-cell adhesion)|interpro:IPR000225(Armadillo)|interpro:IPR011989(Armadillo-like helical)|interpro:IPR016024(Armadillo-type fold)|interpro:IPR028435|interpro:IPR028443|reactome:R-HSA-6805567|reactome:R-HSA-6809371|reactome:R-HSA-9696264|reactome:R-HSA-9696270|reactome:R-HSA-9696273 - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:Ii0+JmsNuDEPLxwiTJ8utGeaq4Q9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification) uniprotkb:P63252 uniprotkb:Q9ULH0-1 intact:EBI-703457|uniprotkb:O15110|uniprotkb:P48049|ensembl:ENSP00000243457|ensembl:ENSP00000441848 intact:EBI-27069393|ensembl:ENSP00000256707 psi-mi:kcnj2_human(display_long)|uniprotkb:Potassium channel, inwardly rectifying subfamily J member 2(gene name synonym)|uniprotkb:"Inward rectifier K(+) channel Kir2.1"(gene name synonym)|uniprotkb:Cardiac inward rectifier potassium channel(gene name synonym)|uniprotkb:IRK1(gene name synonym)|uniprotkb:KCNJ2(gene name)|psi-mi:KCNJ2(display_short) psi-mi:q9ulh0-1(display_long)|uniprotkb:Ankyrin repeat-rich membrane-spanning protein(gene name synonym)|uniprotkb:KIDINS220(gene name)|psi-mi:KIDINS220(display_short)|uniprotkb:ARMS(gene name synonym)|uniprotkb:KIAA1250(gene name synonym) psi-mi:"MI:1314"(proximity-dependent biotin identification) Park et al. (2020) pubmed:32541000|imex:IM-29166 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:2364"(proximity) psi-mi:"MI:0469"(IntAct) intact:EBI-28956270|imex:IM-29166-6 - psi-mi:"MI:1060"(spoke expansion) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_000882.1|ensembl:ENSG00000123700(gene)|ensembl:ENST00000243457(transcript)|ensembl:ENST00000535240(transcript)|go:"GO:0005242"(inward rectifier potassium channel activity)|go:"GO:0005546"(phosphatidylinositol-4,5-bisphosphate binding)|go:"GO:0005790"(smooth endoplasmic reticulum)|go:"GO:0005791"(rough endoplasmic reticulum)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005886"(plasma membrane)|go:"GO:0005887"(integral component of plasma membrane)|go:"GO:0006813"(potassium ion transport)|go:"GO:0008076"(voltage-gated potassium channel complex)|go:"GO:0014704"(intercalated disc)|go:"GO:0014861"(regulation of skeletal muscle contraction via regulation of action potential)|go:"GO:0015693"(magnesium ion transport)|go:"GO:0030007"(cellular potassium ion homeostasis)|go:"GO:0030315"(T-tubule)|go:"GO:0031224"(intrinsic component of membrane)|go:"GO:0034765"(regulation of ion transmembrane transport)|go:"GO:0042802"(identical protein binding)|go:"GO:0043025"(neuronal cell body)|go:"GO:0043197"(dendritic spine)|go:"GO:0051289"(protein homotetramerization)|go:"GO:0055119"(relaxation of cardiac muscle)|go:"GO:0060075"(regulation of resting membrane potential)|go:"GO:0060306"(regulation of membrane repolarization)|go:"GO:0071260"(cellular response to mechanical stimulus)|go:"GO:0071805"(potassium ion transmembrane transport)|go:"GO:0086002"(cardiac muscle cell action potential involved in contraction)|go:"GO:0086004"(regulation of cardiac muscle cell contraction)|go:"GO:0086008"(voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization)|go:"GO:0086011"(membrane repolarization during action potential)|go:"GO:0086012"(membrane depolarization during cardiac muscle cell action potential)|go:"GO:0086013"(membrane repolarization during cardiac muscle cell action potential)|go:"GO:0086091"(regulation of heart rate by cardiac conduction)|go:"GO:0090076"(relaxation of skeletal muscle)|go:"GO:1901381"(positive regulation of potassium ion transmembrane transport)|go:"GO:1990573"(potassium ion import across plasma membrane)|interpro:IPR003271(Potassium channel, inwardly rectifying, Kir2.1)|interpro:IPR013518(Potassium channel, inwardly rectifying, Kir, cytoplasmic)|interpro:IPR013673(Potassium channel, inwardly rectifying, Kir, N-terminal)|interpro:IPR014756(Immunoglobulin E-set)|interpro:IPR016449(Potassium channel, inwardly rectifying, Kir)|interpro:IPR040445|interpro:IPR041647|rcsb pdb:6SPZ|reactome:R-HSA-1296041|reactome:R-HSA-1296053|reactome:R-HSA-5576886|reactome:R-HSA-997272 ensembl:ENSG00000134313(gene)|ensembl:ENST00000256707(transcript)|intact:EBI-716681(isoform-parent) - - - figure legend:Supplementary Table 3|comment:Neutral interactors of KCNJ2|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293 flp-in)|taxid:9606(Homo sapiens) - 2021/08/17 2022/01/03 rogid:uGsmRzyUuB9KQ53a7lTB90mvi/89606 rogid:0wyaXuvXCqQTlfjuW4TAcIGmdlw9606 rigid:VaTu/Io396obhn/8J1UDFNF6lkw false mutation with complex effect:314-315|bira tag:n-n - - - psi-mi:"MI:0102"(sequence tag identification) psi-mi:"MI:0102"(sequence tag identification)