GAS6

Chr 13

growth arrest specific 6

Also known as: AXLLG, AXSF

NCBI Gene: 2621 ENSG00000183087 UniProt: Q14393

The protein encoded by this gene is a ligand for tyrosine-protein kinase receptors (AXL, TYRO3, and MER) that regulates cell growth, survival, adhesion, and migration processes including endothelial cell survival, natural killer cell development, hepatic regeneration, neuron survival and migration, and platelet activation. Mutations in GAS6 cause autosomal recessive thrombophilia due to protein S deficiency-like syndrome, characterized by increased risk of venous thromboembolism. The gene shows high constraint against loss-of-function variants (LOEUF 0.486), indicating that complete loss of protein function is likely deleterious.

ResearchSummary from RefSeq, UniProt

This gene encodes a gamma-carboxyglutamic acid (Gla)-containing protein thought to be involved in the stimulation of cell proliferation. This gene is frequently overexpressed in many cancers and has been implicated as an adverse prognostic marker. Elevated protein levels are additionally associated with a variety of disease states, including venous thromboembolic disease, systemic lupus erythematosus, chronic renal failure, and preeclampsia. [provided by RefSeq, Aug 2014]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

199

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.49

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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