rs2304186

This is a 3 prime utr variant variant in the AKT2 gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
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Research that mentions this SNP (1)

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Single‐nucleotide polymorphisms in the p53 pathway genes modify cancer risk in BRCA1 and BRCA2 carriers of Jewish‐Ashkenazi descent
AssociationN=704Ronit I. Yarden et al.(2010)· Molecular Carcinogenesis

This case-cohort study of 704 postmenopausal women examined 33 SNPs in IGF-I, insulin resistance, and related signaling pathway genes. Six SNPs in INS, IGF-I, and IGFBP3 genes and 11 SNPs in IRS1 and AKT1/2 genes were associated with colorectal cancer risk, with associations differing by obesity status, physical activity, and exogenous estrogen use. Approximately 30-50% of the SNP-cancer association was mediated or influenced by IGF-I/IR traits, suggesting gene-lifestyle interactions affect postmenopausal CRC risk.

Traits studied:Colorectal cancerFasting glucoseFasting insulinHOMA-IRIGFBP3 levelsInsulin resistanceInsulin-like growth factor-I levels
PubMedDOIMetascience Observatory

About AKT2

This gene is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains, which is involved in signaling pathways. The gene serves as an oncogene in the tumorigenesis of cancer cells For example, its overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. The encoded protein is a general protein kinase capable of phophorylating several known proteins, and has also been implicated in insulin signaling. [provided by RefSeq, Nov 2019]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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