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 |