rs2245214

This is a intron variant variant in the ATG5 gene.

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Research that mentions this SNP (1)

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Variants in autophagy‐related genes and clinical characteristics in melanoma: a population‐based study
AssociationN=911Kirsten A. M. White et al.(2016)· Cancer Medicine

A population-based case-control study examined five SNPs in autophagy-related genes (ATG5, ATG10, ATG16L) and melanoma clinical characteristics in 911 patients. ATG16L rs2241880 GG genotype was associated with earlier stage (OR 0.47, P=0.02) and decreased Breslow thickness (P=0.03), while two ATG5 SNPs (rs2245214 CG, OR 1.47, P=0.03; rs510432 CC, OR 1.84, P=0.05) were associated with increased stage. ATG10 rs1864182 CC and ATG5 rs510432 CC were inversely associated with brisk tumor-infiltrating lymphocytes.

Traits studied:Age at diagnosisBreslow thicknessMelanomaMelanoma anatomic siteMelanoma stageTumor-infiltrating lymphocytes (TILs)
PubMedDOIMetascience Observatory

About ATG5

The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Several transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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