AXL Chromosome 19
AXL receptor tyrosine kinase
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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
RS1349581273
Conflicting classifications of pathogenicity
Health Risk
RS141502789
Conflicting classifications of pathogenicity
Health Risk
RS201003955
Conflicting classifications of pathogenicity
Health Risk
RS373017958
Conflicting classifications of pathogenicity
AXL-related disorder, AXL-related disorder
Health Risk
RS776776986
Conflicting classifications of pathogenicity
Health Risk
RS1599744167
Likely pathogenic
NK-cell enteropathy, NK-cell enteropathy
Health Risk
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 |