rs11133399
This is a coding sequence variant variant in the CLOCK gene.
▶Research that mentions this SNP (1)
▶Functional polymorphisms in circadian positive feedback loop genes predict postsurgical prognosis of gastric cancerAssociationN=704Yibing Chen et al.(2019)· Cancer Medicine
This association study examined nine functional SNPs in circadian positive feedback loop genes (CLOCK, BMAL1, NPAS2) in 704 Chinese gastric cancer patients. Three SNPs showed significant associations with overall survival and recurrence-free survival: rs11133399 in CLOCK (HR 1.27-1.29, p=0.007-0.020), rs2279284 in BMAL1 (HR 1.12-1.18, p=0.024-0.048), and rs1044432 in BMAL1 (HR 0.82-0.84, p=0.042-0.047). Functional assays confirmed that the G allele of rs11133399 enhanced CLOCK promoter activity and gene expression.
About CLOCK
The protein encoded by this gene plays a central role in the regulation of circadian rhythms. The protein encodes a transcription factor of the basic helix-loop-helix (bHLH) family and contains DNA binding histone acetyltransferase activity. The encoded protein forms a heterodimer with ARNTL (BMAL1) that binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Polymorphisms in this gene may be associated with behavioral changes in certain populations and with obesity and metabolic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
View all CLOCK variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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