CRTC3
CREB regulated transcription coactivator 3
Summary
This gene is a member of the CREB regulated transcription coactivator gene family. This family regulates CREB-dependent gene transcription in a phosphorylation-independent manner and may be selective for cAMP-responsive genes. The protein encoded by this gene may induce mitochondrial biogenesis and attenuate catecholamine signaling in adipose tissue. A translocation event between this gene and Notch coactivator mastermind-like gene 2, which results in a fusion protein, has been reported in mucoepidermoid carcinomas. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11635252 | 15:91,071,774 | T/A | — | — |
| rs56402930 | 15:91,072,962 | A/C | — | — |
| rs773241141 | 15:91,073,354 | G/C | — | uncertain significance |
| rs188476026 | 15:91,073,429 | G/A | — | likely benign |
| rs11637971 | 15:91,079,863 | A/C | regulatory region variant | — |
| rs3862434 | 15:91,080,387 | A/G | regulatory region variant | — |
| rs2505474071 | 15:91,083,304 | A/C | — | uncertain significance |
| rs6496691 | 15:91,109,611 | G/A | intron variant | — |
| rs12915189 | 15:91,114,376 | A/G | regulatory region variant | — |
| rs575619644 | 15:91,116,031 | C/G | — | — |
| rs11631150 | 15:91,143,909 | G/C | upstream gene variant | — |
| rs147681624 | 15:91,145,559 | G/A | — | uncertain significance |
| rs375325004 | 15:91,145,581 | A/G | — | uncertain significance |
| rs4932352 | 15:91,145,800 | C/T | downstream gene variant | — |
| rs201381660 | 15:91,147,661 | T/C | — | uncertain significance |
| rs556431291 | 15:91,147,670 | C/T | — | uncertain significance |
| rs1318796956 | 15:91,150,685 | G/C | — | uncertain significance |
| rs77748519 | 15:91,161,164 | G/A | — | benign |
| rs759844206 | 15:91,169,037 | G/A | — | uncertain significance |
| rs373321970 | 15:91,169,223 | C/T | — | uncertain significance |
| rs765312867 | 15:91,172,505 | C/T | — | uncertain significance |
| rs201378392 | 15:91,172,556 | C/T | — | uncertain significance |
| rs200377837 | 15:91,172,666 | G/A | — | uncertain significance |
| rs1968958271 | 15:91,172,679 | C/T | — | uncertain significance |
| rs776314268 | 15:91,172,751 | A/G | — | uncertain significance |
| rs7495132 | 15:91,172,901 | C/T | intron variant | — |
| rs6496712 | 15:91,173,701 | G/T | upstream gene variant | — |
| rs141991588 | 15:91,175,860 | A/G | upstream gene variant | — |
| rs200794275 | 15:91,181,678 | A/G | — | uncertain significance |
| rs142366939 | 15:91,181,721 | A/C | — | uncertain significance |
| rs193921108 | 15:91,181,798 | C/A | — | uncertain significance |
| rs149719364 | 15:91,181,835 | C/G | — | uncertain significance |
| rs534287635 | 15:91,181,838 | C/T | — | uncertain significance |
| rs765399427 | 15:91,181,850 | A/T | — | uncertain significance |
| rs756034728 | 15:91,181,871 | C/T | — | uncertain significance |
| rs1567198027 | 15:91,181,984 | C/G | — | uncertain significance |
| rs201346508 | 15:91,182,000 | G/C | — | uncertain significance |
| rs772351845 | 15:91,184,348 | G/A | — | uncertain significance |
| rs141496744 | 15:91,184,364 | G/T | — | uncertain significance |
| rs201280022 | 15:91,184,390 | C/T | — | likely benign |
| rs150890712 | 15:91,184,404 | G/A | — | uncertain significance |
| rs1353993468 | 15:91,184,410 | C/G | — | uncertain significance |
| rs1969461762 | 15:91,185,190 | G/T | — | uncertain significance |
| rs2286288 | 15:91,185,204 | G/A | — | benign |
| rs1221426923 | 15:91,185,299 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.