rs1045435
This is a regulatory region variant variant in the CDK2 gene.
▶Research that mentions this SNP (1)
▶A functional single nucleotide polymorphism at the promoter region of cyclin A2 is associated with increased risk of colon, liver, and lung cancersAssociationN=3,085Duk‐Hwan Kim et al.(2011)· Cancer
A functional SNP at the CCNA2 promoter (rs769236, +1 G→A) was associated with significantly increased risk of colorectal cancer (OR=1.67, P<.0001), hepatocellular carcinoma (OR=1.31, P=.02), and lung cancer (OR=2.28, P<.0001) in an expanded case-control study of 1,989 cancer patients and 1,096 controls. Functional assays demonstrated the A allele had 1.5-fold greater luciferase activity than the G allele, independent of cell cycle.
About CDK2
This gene encodes a member of a family of serine/threonine protein kinases that participate in cell cycle regulation. The encoded protein is the catalytic subunit of the cyclin-dependent protein kinase complex, which regulates progression through the cell cycle. Activity of this protein is especially critical during the G1 to S phase transition. This protein associates with and regulated by other subunits of the complex including cyclin A or E, CDK inhibitor p21Cip1 (CDKN1A), and p27Kip1 (CDKN1B). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
View all CDK2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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