NCOA5
nuclear receptor coactivator 5
Summary
This gene encodes a coregulator for the alpha and beta estrogen receptors and the orphan nuclear receptor NR1D2. The protein localizes to the nucleus, and is thought to have both coactivator and corepressor functions. Its interaction with nuclear receptors is independent of the AF2 domain on the receptors, which is known to regulate interaction with other coreceptors. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2017]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2084776305 | 20:44,691,032 | C/G | — | uncertain significance |
| rs2515662031 | 20:44,691,061 | C/A | — | uncertain significance |
| rs200002068 | 20:44,691,097 | C/T | — | uncertain significance |
| rs2084777272 | 20:44,691,124 | C/T | — | uncertain significance |
| rs200765706 | 20:44,691,234 | T/C | — | uncertain significance |
| rs763308560 | 20:44,691,254 | T/G | — | uncertain significance |
| rs148898880 | 20:44,691,313 | C/G | — | uncertain significance |
| rs143638505 | 20:44,691,360 | T/C | — | uncertain significance |
| rs761110679 | 20:44,691,452 | C/A | — | uncertain significance |
| rs1366608550 | 20:44,691,465 | G/T | — | uncertain significance |
| rs1391281301 | 20:44,691,492 | C/A | — | uncertain significance |
| rs777833056 | 20:44,691,502 | C/A | — | uncertain significance |
| rs139053079 | 20:44,691,505 | C/T | — | uncertain significance |
| rs765202898 | 20:44,692,062 | T/C | — | uncertain significance |
| rs1175783755 | 20:44,692,095 | T/C | — | uncertain significance |
| rs35481630 | 20:44,692,170 | T/G | — | benign |
| rs13037326 | 20:44,692,598 | C/T | downstream gene variant | — |
| rs998871658 | 20:44,693,731 | T/C | — | uncertain significance |
| rs745822989 | 20:44,693,821 | C/T | — | uncertain significance |
| rs760317447 | 20:44,693,835 | C/G | — | uncertain significance |
| rs2903908 | 20:44,693,947 | T/G | — | — |
| rs764153135 | 20:44,695,800 | G/A | — | uncertain significance |
| rs546871207 | 20:44,698,377 | A/G | — | — |
| rs374608403 | 20:44,698,898 | T/C | — | uncertain significance |
| rs375721157 | 20:44,698,969 | C/T | — | uncertain significance |
| rs746747724 | 20:44,698,973 | C/T | — | uncertain significance |
| rs986332115 | 20:44,698,978 | C/T | — | uncertain significance |
| rs2425752 | 20:44,702,120 | T/G | — | — |
| rs538648531 | 20:44,705,035 | G/A | — | — |
| rs755272201 | 20:44,708,056 | G/A | — | uncertain significance |
| rs6074013 | 20:44,709,539 | C/G | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.