LongevityMap Gene
Gene details
- HGNC symbol
- CLOCK
- Aliases
- KAT13D; bHLHe8
- Common name
- clock circadian regulator
- Description
- 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]
- Cytogenetic Location
- 4q12
- UCSC Genome Browser
- View 4q12 on the UCSC genome browser
- OMIM
- 601851
- Ensembl
- ENSG00000134852
- UniProt/Swiss-Prot
- CLOCK_HUMAN
- Entrez Gene
- 9575
- UniGene
- 436975
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
In other databases
- GenAge model organism genes
- A homolog of this gene for Mus musculus is present as Clock
- GenAge human genes
- This gene is present as CLOCK
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Italian (Southern)
- Study Design
- A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
- Conclusions
- After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
- Indentifier
- rs1801260
- Reference