UniProt UniProt http://www.uniprot.org S165F mutation of junctophilin 2 affects Ca2+ signalling in skeletal muscle. S165F mutation of junctophilin 2 affects Ca2+ signalling in skeletal muscle. Biochem. J. (0264-6021) 2010 imex curation Woo J.S., Hwang J.H., Ko J.K., Weisleder N., Kim d.o. .H., Ma J., Lee E.H. ehui@catholic.ac.kr 22-Jan-2015: Contacted by IntAct-Help. Only protein-protein interactions mouse-skeletal-muscle Mus musculus skeletal muscle. skeletal_muscle Skeletal muscle anti bait coip anti bait coimmunoprecipitation anti bait coip western blot western blot Immuno blot Immuno blot Woo J.S., Hwang J.H., Ko J.K., Weisleder N., Kim d.o. .H., Ma J., Lee E.H. ehui@catholic.ac.kr Accepted 2015-JAN-15 by ORCHARD Biochem. J. (0264-6021) 2010 imex curation jph2_mouse Junctophilin-2 Jph2 Jp2 Junctophilin type 2 protein protein mouse Mus musculus Mouse MSGGRFDFDDGGAYCGGWEGGKAHGHGLCTGPKGQGEYSGSWNFGFEVAGVYTWPSGNTFEGYWSQGKRHGLGIETKGRWLYKGEWTHGFKGRYGIRQSTNSGAKYEGTWNNGLQDGYGTETYADGGTYQGQFTNGMRHGYGVRQSVPYGMAVVVRSPLRTSLSSLRSEHSNGTVAPDSPAADGPMLPSPPVPRGGFALTLLATAEAARPQGLFTRGTLLGRLRRSESRTSLGSQRSRLSFLKSELSSGASDAASTGSLAEGAEGPDDAAAPFDADIDATTTETYMGEWKNDKRSGFGVSERSSGLRYEGEWLDNLRHGYGRTTLPDGHREEGKYRHNVLVKGTKRRVLPLKSSKVRQKVEHGVEGAQRAAAIARQKAEIAASRTSHAKAKAEAAEQAALAANQESNIARTLAKELAPDFYQPGPEYQKRRLLQEILENSESLLEPPERGLGTGLPERPRESPQLHERETPQPEGGPPSPAGTPPQPKRPRPGASKDGLLSPGSWNGEPGGEGSRPATPSDGAGRRSPARPASEHMAIEALQPPPAPSQEPEVAMYRGYHSYAVRTGPPEPPPLEDEQEPEPEPEPEVRRSDSAPPSPVSATVPEEEPPAPRSPVPAKQATLEPKPIVPKAEPKAKARKTEARGLSKAGAKKKGRKEVAQAKEAEVEVEEVPNTVLICMVILLNIGLAILFVHLLT mint Contributes to the stabilization of the junctional membrane complexes, which are common to excitable cells and mediate cross-talk between cell surface and intracellular ion channels. Probably acts by anchoring the plasma membrane and endoplasmic/sarcoplasmic reticulum. Contributes to the construction of skeletal muscle triad junctions, and plays an essential role in heart development 346BA284E076A7FB trpc3_mouse Short transient receptor potential channel 3 Trp3 Trrp3 Trpc3 Receptor-activated cation channel TRP3 Transient receptor protein 3 Trp-related protein 3 protein protein mouse Mus musculus Mouse MRDKGRRQAVRGPAFMFGARGPSLTAEEERFLDAAEYGNIPVVRKMLEESRTLNVNCVDYMGQNALQLAVGNEHLEVTELLLKKENLARIGDALLLAISKGYVRIVEAILGHPGFAASRRLTLSPCEQELRDDDFYAYDEDGTRFSPDITPIILAAHCHKYEVVHLLLLKGARIERAHDYFCRCSDCAEKQRLDAFSHSRSRINAYKGLASPAYLSLSSEDPVLTALELSNELAKLANIEKEFKNDYRKLSMQCKDFVVGVLDLCRDSEEVEAILNGDLESAEPLERHGHKASLSRVKLAIKYEVKKFVAHPNCQQQLLTIWYENLSGLREQTIAIKCLVVLVVALGLPFLAIGYWIAPCSRLGKILRSPFMKFVAHAASFIIFLGLLVFNASDRFEGITTLPNITVIDYPKQIFRVKTTQFTWTEMLIMVWVLGMMWSECKELWLEGPREYIVQLWNVLDFGMLSIFIAAFTARFLAFLQATKAQQYVDSHVQESDLSEVTLPPEVQYFTYARDKWLPSDPQIISEGLYAIAVVLSFSRIAYILPANESFGPLQISLGRTVKDIFKFMVLFIMVFLAFMIGMFILYSYYLGAKVNPAFTTVEESFKTLFWSIFGLSEVTSVVLKYDHKFIENIGYVLYGIYNVTMVVVLLNMLIAMINSSYQEIEDDSDVEWKFARSKLWLSYFDDGKTLPPPFSLVPSPKSFVYFIMRITNFSKCRRRRLQKDLELGMGNSKSRLNLFTQSNSRVFESHSFNSILNQPTRYQQIMKRLIKRYVLKAQVDKENDEVNEGELKEIKQDISSLRYELLEDKSQATEELAILIHKLSEKLNPSVLRCE DIP protein Q9QZC1 original sequence version: 109 7B863B209B9A25F8 trpc3-jph2 1 2 unspecified role unspecified role prey prey Q9ET78:p.Ser165Phe mutation decreasing mutation decreasing interaction hotspot hotspot mutation decreasing certain certain sequence position certain certain certain sequence position certain S F Corresponds to human JPH2 S165F variant linked to CMH17 [MIM:613873]. Wed May 02 16:34:05 BST 2018 This feature has been corrected as a result of our quality control procedures. The original label was 'ser165phe' Tue Jun 30 17:47:06 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ser165Phe' 3 unspecified role unspecified role bait bait physical association physical association 6C GF-109203X ( selective protein kinase C inhibitor)