rs3217756
This variant is located in the BBS7 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 BBS7
This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]
View all BBS7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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