CRTC2
CREB regulated transcription coactivator 2
Summary
This gene encodes a member of the transducers of regulated cAMP response element-binding protein activity family of transcription coactivators. These proteins promote the transcription of genes targeted by the cAMP response element-binding protein, and therefore play an important role in many cellular processes. Under basal conditions the encoded protein is phosphorylated by AMP-activated protein kinase or the salt-inducible kinases and is sequestered in the cytoplasm. Upon activation by elevated cAMP or calcium, the encoded protein translocates to the nucleus and increases target gene expression. Single nucleotide polymorphisms in this gene may increase the risk of type 2 diabetes. A pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2010]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs779211797 | 1:153,920,595 | C/T | — | uncertain significance |
| rs747047912 | 1:153,920,605 | G/A | — | uncertain significance |
| rs374570214 | 1:153,920,640 | G/C | — | uncertain significance |
| rs551248341 | 1:153,920,691 | C/T | — | uncertain significance |
| rs1018215313 | 1:153,920,696 | C/G | — | uncertain significance |
| rs1232812251 | 1:153,920,742 | T/C | — | uncertain significance |
| rs140933480 | 1:153,920,758 | C/T | — | uncertain significance |
| rs1421958751 | 1:153,920,784 | G/A | — | uncertain significance |
| rs1680139917 | 1:153,920,957 | G/A | — | uncertain significance |
| rs201098465 | 1:153,921,085 | G/C | — | uncertain significance |
| rs777386699 | 1:153,921,614 | T/C | — | uncertain significance |
| rs2525891641 | 1:153,921,639 | A/C | — | uncertain significance |
| rs775889536 | 1:153,921,656 | G/A | — | uncertain significance |
| rs536940556 | 1:153,921,811 | G/A | — | uncertain significance |
| rs555428710 | 1:153,921,857 | C/T | — | uncertain significance |
| rs1290683349 | 1:153,923,765 | T/C | — | uncertain significance |
| rs772823934 | 1:153,923,840 | G/T | — | uncertain significance |
| rs377025190 | 1:153,923,854 | C/T | — | uncertain significance |
| rs769567701 | 1:153,923,891 | G/A | — | uncertain significance |
| rs200739285 | 1:153,923,983 | G/A | — | uncertain significance |
| rs965848601 | 1:153,924,019 | G/A | — | uncertain significance |
| rs921691867 | 1:153,924,067 | C/T | — | uncertain significance |
| rs746739016 | 1:153,924,088 | T/C | — | uncertain significance |
| rs574923981 | 1:153,924,128 | G/A | — | uncertain significance |
| rs911199642 | 1:153,924,557 | G/A | — | uncertain significance |
| rs2102110797 | 1:153,924,740 | T/A | — | not provided |
| rs769687063 | 1:153,925,283 | T/C | — | uncertain significance |
| rs200094386 | 1:153,926,065 | T/C | — | uncertain significance |
| rs529206985 | 1:153,926,755 | G/C | — | uncertain significance |
| rs10908557 | 1:153,927,052 | C/G | downstream gene variant | — |
| rs770452194 | 1:153,927,369 | G/C | — | uncertain significance |
| rs760193432 | 1:153,927,464 | C/T | — | uncertain significance |
| rs267598050 | 1:153,927,578 | T/C | — | uncertain significance |
| rs1185778398 | 1:153,927,623 | C/T | — | uncertain significance |
| rs1680557128 | 1:153,927,624 | G/A | — | uncertain significance |
| rs369904427 | 1:153,927,630 | T/C | — | uncertain significance |
| rs1234997597 | 1:153,930,822 | C/G | — | uncertain significance |
| rs145098683 | 1:153,930,936 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.