rs1049606
This is a regulatory region variant variant in the CCND2 gene.
▶ClinVar annotation
▶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 CCND2
The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK4 or CDK6 and functions as a regulatory subunit of the complex, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. Knockout studies of the homologous gene in mouse suggest the essential roles of this gene in ovarian granulosa and germ cell proliferation. High level expression of this gene was observed in ovarian and testicular tumors. Mutations in this gene are associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3). [provided by RefSeq, Sep 2014]
View all CCND2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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