CLOCK
clock circadian regulator
Summary
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]
Known Variants60 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6832769 | 4:56,298,194 | G/A | intron variant | — |
| rs10462028 | 4:56,298,300 | G/A | intron variant | — |
| rs3749474 | 4:56,300,685 | C/T | 3 prime UTR variant | — |
| rs1801260 | 4:56,301,369 | T/C | 3 prime UTR variant | — |
| rs142870025 | 4:56,301,697 | T/C | — | uncertain significance |
| rs2529344533 | 4:56,304,618 | A/G | — | uncertain significance |
| rs1034341919 | 4:56,304,624 | A/G | — | uncertain significance |
| rs138743406 | 4:56,304,670 | C/T | — | uncertain significance |
| rs12505880 | 4:56,307,155 | C/G | — | — |
| rs757685502 | 4:56,308,608 | C/T | — | uncertain significance |
| rs145873359 | 4:56,308,687 | C/T | — | uncertain significance |
| rs898273156 | 4:56,309,936 | A/C | — | uncertain significance |
| rs141058115 | 4:56,309,937 | T/A | — | uncertain significance |
| rs556715429 | 4:56,309,949 | G/A | — | uncertain significance |
| rs3736544 | 4:56,309,992 | A/G | synonymous variant | — |
| rs753731404 | 4:56,310,048 | A/T | — | uncertain significance |
| rs775779441 | 4:56,310,864 | C/T | — | uncertain significance |
| rs34812164 | 4:56,310,908 | G/A | — | likely benign |
| rs1724232417 | 4:56,315,643 | T/C | — | uncertain significance |
| rs578243815 | 4:56,315,645 | G/A | — | likely benign |
| rs748926271 | 4:56,316,335 | A/G | — | uncertain significance |
| rs1428896776 | 4:56,316,377 | T/G | — | uncertain significance |
| rs2412646 | 4:56,318,772 | T/C | 3 prime UTR variant | — |
| rs141393811 | 4:56,319,211 | A/G | — | benign |
| rs6855837 | 4:56,319,244 | G/T | missense variant | — |
| rs1385600505 | 4:56,319,270 | C/T | — | uncertain significance |
| rs11240 | 4:56,319,350 | C/G | 3 prime UTR variant | — |
| rs1554483 | 4:56,321,817 | C/G | downstream gene variant | — |
| rs2529543784 | 4:56,322,079 | T/C | — | uncertain significance |
| rs1724895383 | 4:56,322,166 | G/A | — | uncertain significance |
| rs11932595 | 4:56,323,597 | A/G | downstream gene variant | — |
| rs192832624 | 4:56,325,105 | A/G | — | uncertain significance |
| rs749292162 | 4:56,325,118 | A/G | — | uncertain significance |
| rs138755597 | 4:56,325,147 | C/T | — | likely benign |
| rs34401111 | 4:56,325,152 | A/G | — | benign |
| rs188447644 | 4:56,325,187 | T/C | — | benign |
| rs762198381 | 4:56,325,344 | A/C | — | uncertain significance |
| rs4580704 | 4:56,326,707 | G/C | intron variant | — |
| rs540823217 | 4:56,329,873 | A/C | — | uncertain significance |
| rs34789226 | 4:56,329,906 | T/C | — | uncertain significance |
| rs375936156 | 4:56,329,960 | C/G | — | uncertain significance |
| rs2529651029 | 4:56,336,898 | G/A | — | uncertain significance |
| rs201542880 | 4:56,336,957 | A/T | — | uncertain significance |
| rs968471712 | 4:56,336,970 | G/C | — | uncertain significance |
| rs751422914 | 4:56,342,175 | T/C | — | likely benign |
| rs199515824 | 4:56,344,977 | T/A | — | likely benign |
| rs140094629 | 4:56,344,993 | C/T | — | uncertain significance |
| rs2529703881 | 4:56,345,033 | C/T | — | uncertain significance |
| rs140319729 | 4:56,345,812 | C/T | — | benign |
| rs1479782437 | 4:56,345,835 | C/T | — | uncertain significance |
| rs73236149 | 4:56,373,474 | C/T | intron variant | — |
| rs3817444 | 4:56,375,981 | A/G | — | — |
| rs12649507 | 4:56,380,484 | G/A | intron variant | — |
| rs13115570 | 4:56,387,392 | T/A | — | — |
| rs11932880 | 4:56,398,077 | C/A | intron variant | — |
| rs11939652 | 4:56,398,709 | T/A | intron variant | — |
| rs13134752 | 4:56,408,511 | A/T | — | — |
| rs192518038 | 4:56,413,362 | C/A | coding sequence variant | — |
| rs4864548 | 4:56,413,803 | G/A | coding sequence variant | — |
| rs11133399 | 4:56,413,831 | A/G | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.