Details for Gene AXL

GENE NAME AXL
CHROMOSOME 19
ENSEMBL ID None
ENTREZ ID ENSG00000167601
UNIPROT ACCESSION NUMBER P30530
GO MOLECULAR FUNCTION ['protein tyrosine kinase activity', 'myosin heavy chain binding', 'ATP binding', 'protein binding', 'phosphatidylserine binding', 'virus receptor activity', 'protein serine/threonine/tyrosine kinase activity', 'phosphatidylinositol 3-kinase binding', 'transmembrane receptor protein tyrosine kinase activity']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa01521; R-HSA-162582; R-HSA-194138; R-HSA-4420097; R-HSA-9006934
10 combinations linked to AXL OLI1597; OLI883; OLI421; OLI902; OLI1428; OLI894; OLI845; OLI422; OLI1424; OLI423
9 variants linked to AXL AXL:c.568C>T, p.Arg190Cys; AXL:c.-40C>T, p.Leu1extMet-13; AXL:c.1579C>T, p.Arg527Trp; AXL:c.1619A>G, p.Lys540Arg; AXL:c.1939A>G, p.Ile647Val; AXL:c.1343G>T, p.Trp448Leu; AXL:c.2570C>T, p.Ala857Val; AXL:c.2119C>T, p.Arg707Cys; AXL:c.1549G>A, p.Gly517Ser
3 diseases linked to AXL Normosmic congenital hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism with absent puberty phenotype; Kallmann syndrome

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