Details for Gene INSR

GENE NAME INSR
CHROMOSOME 19
ENSEMBL ID None
ENTREZ ID ENSG00000171105
UNIPROT ACCESSION NUMBER P06213
GO MOLECULAR FUNCTION ['protein tyrosine kinase activity', 'insulin-like growth factor II binding', 'phosphatidylinositol 3-kinase binding', 'insulin binding', 'insulin-like growth factor receptor binding', 'PTB domain binding', 'protein serine/threonine/tyrosine kinase activity', 'transmembrane receptor protein tyrosine kinase activity', 'protein binding', 'protein domain specific binding', 'insulin receptor substrate binding', 'insulin-like growth factor I binding', 'protein-containing complex binding', 'GTP binding', 'amyloid-beta binding', 'insulin-activated receptor activity', 'cargo receptor activity', 'ATP binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04010; hsa04014; hsa04015; hsa04022; hsa04066; hsa04068; hsa04072; hsa04150; hsa04151; hsa04152; hsa04211; hsa04213; hsa04520; hsa04910; hsa04913; hsa04923; hsa04930; hsa04931; hsa04932; hsa04960; hsa05010; R-HSA-1257604; R-HSA-162582; R-HSA-199418; R-HSA-6811558; R-HSA-74713; R-HSA-74749; R-HSA-74751; R-HSA-74752; R-HSA-77387; R-HSA-9006925; R-HSA-9006934
2 combinations linked to INSR OLI1745; OLI715
2 variants linked to INSR INSR:c.3034G>A, p.Val1012Met; INSR:c.660_661del, p.Thr221HisfsTer3
2 diseases linked to INSR Isolated anencephaly; 46,XY disorder of sex development

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