AXL Chromosome 19

AXL receptor tyrosine kinase
6 variants 6 Health Risk

Upload your DNA to see your personal genotypes for variants in AXL.

What This Gene Does
The protein encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) receptor tyrosine kinase subfamily. The encoded protein possesses an extracellular domain which is composed of two immunoglobulin-like motifs at the N-terminal, followed by two fibronectin type-III motifs. It transduces signals from the extracellular matrix into the cytoplasm by binding to the vitamin K-dependent protein growth arrest-specific 6 (Gas6). This gene may be involved in several cellular functions including growth, migration, aggregation and anti-inflammation in multiple cell types. The encoded protein acts as a host cell receptor for multiple viruses, including Marburg, Ebola and Lassa viruses and is a candidate receptor for the SARS-CoV2 virus. [provided by RefSeq, Sep 2021]
Gene Info
Gene Group
"Receptor tyrosine kinases|Fibronectin type III domain containing|V-set domain containing"
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000167601
Associated Conditions (2)
AXL-related disorder
NK-cell enteropathy
Key Variants
All Variants (6)
RSID Category Clinical Significance Conditions
RS1349581273 Health Risk Conflicting classifications of pathogenicity —
RS141502789 Health Risk Conflicting classifications of pathogenicity —
RS201003955 Health Risk Conflicting classifications of pathogenicity —
RS373017958 Health Risk Conflicting classifications of pathogenicity AXL-related disorder, AXL-related disorder
RS776776986 Health Risk Conflicting classifications of pathogenicity —
RS1599744167 Health Risk Likely pathogenic NK-cell enteropathy, NK-cell enteropathy
Sign Up to Analyze Your DNA Log In