IntAct European Bioinformatics Institute IntAct intact http://www.ebi.ac.uk/ http://www.ebi.ac.uk/intact/query/${ac} EBI-[0-9]+|IA:[0-9]+ INTerAction database (IntAct) provides an open source database and toolkit for the storage, presentation and analysis of molecular interactions. http://www.ebi.ac.uk/intact European Bioinformatics Institute; Wellcome Trust Genome Campus; Hinxton, Cambridge; CB10 1SD; United Kingdom http://www.ebi.ac.uk/intact/ Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. American journal of human genetics 2009 imex curation zur Stadt U., Rohr J., Seifert W., Koch F., Grieve S., Pagel J., Strauss J., Kasper B., Nürnberg G., Becker C., Maul-Pavicic A., Beutel K., Janka G., Griffiths G., Ehl S., Hennies HC. Rare diseases - Interactions investigated in the context of Rare genetic disease zurstadt@kinderkrebs-forschung.de 21-Nov-2019: Contacted by IntAct-Help. Only protein-protein interactions imex curation human-nk_cells human-Natural Killer cells Human nk_cells Natural killer cells confocal microscopy confocal microscopy immunocytochemistry immunocytochemistry zur Stadt U., Rohr J., Seifert W., Koch F., Grieve S., Pagel J., Strauss J., Kasper B., Nürnberg G., Becker C., Maul-Pavicic A., Beutel K., Janka G., Griffiths G., Ehl S., Hennies HC. Rare diseases - Interactions investigated in the context of Rare genetic disease zurstadt@kinderkrebs-forschung.de Accepted 2019-OCT-14 AT 17:34 BST AT 17:34 BST by MGT American journal of human genetics 2009 Only protein-protein interactions imex curation imex curation Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. American journal of human genetics 2009 imex curation zur Stadt U., Rohr J., Seifert W., Koch F., Grieve S., Pagel J., Strauss J., Kasper B., Nürnberg G., Becker C., Maul-Pavicic A., Beutel K., Janka G., Griffiths G., Ehl S., Hennies HC. Rare diseases - Interactions investigated in the context of Rare genetic disease zurstadt@kinderkrebs-forschung.de 21-Nov-2019: Contacted by IntAct-Help. Only protein-protein interactions imex curation human-t-cell_cd8+ Homo sapiens CD8+ T lymphocytes t-cell_cd8+ CD8+ T lymphocytes confocal microscopy confocal microscopy immunocytochemistry immunocytochemistry zur Stadt U., Rohr J., Seifert W., Koch F., Grieve S., Pagel J., Strauss J., Kasper B., Nürnberg G., Becker C., Maul-Pavicic A., Beutel K., Janka G., Griffiths G., Ehl S., Hennies HC. Rare diseases - Interactions investigated in the context of Rare genetic disease zurstadt@kinderkrebs-forschung.de Accepted 2019-OCT-14 AT 17:34 BST AT 17:34 BST by MGT American journal of human genetics 2009 Only protein-protein interactions imex curation imex curation Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. American journal of human genetics 2009 imex curation zur Stadt U., Rohr J., Seifert W., Koch F., Grieve S., Pagel J., Strauss J., Kasper B., Nürnberg G., Becker C., Maul-Pavicic A., Beutel K., Janka G., Griffiths G., Ehl S., Hennies HC. Rare diseases - Interactions investigated in the context of Rare genetic disease zurstadt@kinderkrebs-forschung.de 21-Nov-2019: Contacted by IntAct-Help. Only protein-protein interactions imex curation human-293 Homo sapiens transformed primary embryonal kidney cells Human 293 Transformed human primary embryonal kidney cells. The Cell type named 293 is synonymous with HEK-293. anti tag coip anti tag coimmunoprecipitation anti tag coip anti tag western anti tag western blot anti tag western zur Stadt U., Rohr J., Seifert W., Koch F., Grieve S., Pagel J., Strauss J., Kasper B., Nürnberg G., Becker C., Maul-Pavicic A., Beutel K., Janka G., Griffiths G., Ehl S., Hennies HC. Rare diseases - Interactions investigated in the context of Rare genetic disease p.Arg405Glu has not been captured as the given resulting aminoacid does not synchronize with the nucleotide substitution c.1214G>A; ClinVar (ID: 538148) reports the resulting aminoacid substitution in the protein sequence as p.Arg405Gln for c.1214G>A. zurstadt@kinderkrebs-forschung.de Accepted 2019-OCT-14 AT 17:34 BST AT 17:34 BST by MGT American journal of human genetics 2009 Only protein-protein interactions imex curation imex curation stxb2_human Syntaxin-binding protein 2 STXBP2 UNC18B Protein unc-18 homolog 2 Protein unc-18 homolog B protein protein human Homo sapiens Human MAPSGLKAVVGEKILSGVIRSVKKDGEWKVLIMDHPSMRILSSCCKMSDILAEGITIVEDINKRREPIPSLEAIYLLSPTEKSVQALIKDFQGTPTFTYKAAHIFFTDTCPEPLFSELGRSRLAKVVKTLKEIHLAFLPYEAQVFSLDAPHSTYNLYCPFRAEERTRQLEVLAQQIATLCATLQEYPAIRYRKGPEDTAQLAHAVLAKLNAFKADTPSLGEGPEKTRSQLLIMDRAADPVSPLLHELTFQAMAYDLLDIEQDTYRYETTGLSEAREKAVLLDEDDDLWVELRHMHIADVSKKVTELLRTFCESKRLTTDKANIKDLSQILKKMPQYQKELNKYSTHLHLADDCMKHFKGSVEKLCSVEQDLAMGSDAEGEKIKDSMKLIVPVLLDAAVPAYDKIRVLLLYILLRNGVSEENLAKLIQHANVQAHSSLIRNLEQLGGTVTNPGGSGTSSRLEPRERMEPTYQLSRWTPVIKDVMEDAVEDRLDRNLWPFVSDPAPTASSQAAVSARFGHWHKNKAGIEARAGPRLIVYVMGGVAMSEMRAAYEVTRATEGKWEVLIGSSHILTPTRFLDDLKALDKKLEDIALP 98E27B55309168A9 stx11_human Syntaxin-11 STX11 protein protein human Homo sapiens Human MKDRLAELLDLSKQYDQQFPDGDDEFDSPHEDIVFETDHILESLYRDIRDIQDENQLLVADVKRLGKQNARFLTSMRRLSSIKRDTNSIAKAIKARGEVIHCKLRAMKELSEAAEAQHGPHSAVARISRAQYNALTLTFQRAMHDYNQAEMKQRDNCKIRIQRQLEIMGKEVSGDQIEDMFEQGKWDVFSENLLADVKGARAALNEIESRHRELLRLESRIRDVHELFLQMAVLVEKQADTLNVIELNVQKTVDYTGQAKAQVRKAVQYEEKNPCRTLCCFCCPCLK 18E8B43BA987D891 stx11-stxbp2-1 3 5 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell region flag tag flag tag FLAG-tagged FLAG DYKDDDDKV epitope tag DYKDDDDKV epitope tag FLAG FLAG-tagged n-term range n-terminal range n-term range n-term range n-terminal range n-term range 4 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell region egfp tag enhanced green fluorescent protein tag enhanced green fluorescent protein EGFP enhanced green fluorescent protein EGFP egfp tag n-term range n-terminal range n-term range n-term range n-terminal range n-term range Q15833:p.Pro477Leu mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain P L Tue Jun 30 19:17:53 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Pro477Leu' Q15833:p.Arg405Trp mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain R W Tue Jun 30 17:44:22 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg405Trp' Q15833:p.Arg292His mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain R H Tue Jun 30 17:40:15 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg292His' Q15833:p.Ile232del mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain I . Tue Jun 30 17:22:42 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Ile232del' Q15833:p.Arg405Glu mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain R E Tue Jun 30 18:35:52 BST 2020 This feature has been corrected as a result of our quality control procedures. The original label was 'p.Arg405Glu' physical association physical association Figure 2c stx11-stxbp2-4 1 5 unspecified role unspecified role neutral component neutral component physiological level physiological level endogenous level endogenous endogenous endogenous level fixed cell fixed cell 4 unspecified role unspecified role neutral component neutral component physiological level physiological level endogenous level endogenous endogenous endogenous level fixed cell fixed cell colocalization colocalization Figure S2 IL-2 stx11-stxbp2-5 2 5 unspecified role unspecified role neutral component neutral component physiological level physiological level endogenous level endogenous endogenous endogenous level fixed cell fixed cell 4 unspecified role unspecified role neutral component neutral component physiological level physiological level endogenous level endogenous endogenous endogenous level fixed cell fixed cell colocalization colocalization Figure S2 IL-2