PPARGC1A
PPARG coactivator 1 alpha
Summary
The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008]
Known Variants77 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3774923 | 4:23,795,064 | C/T | 3 prime UTR variant | — |
| rs6821591 | 4:23,797,000 | C/G | — | — |
| rs1717494322 | 4:23,797,467 | G/T | — | uncertain significance |
| rs762968862 | 4:23,803,478 | C/T | — | uncertain significance |
| rs377729272 | 4:23,803,512 | G/A | — | benign |
| rs753923087 | 4:23,803,857 | G/A | — | uncertain significance |
| rs753108878 | 4:23,803,866 | C/T | — | uncertain significance |
| rs1873532 | 4:23,806,778 | C/G | — | — |
| rs2970886 | 4:23,810,178 | C/T | intron variant | — |
| rs2475063382 | 4:23,814,404 | G/A | — | uncertain significance |
| rs3736265 | 4:23,814,707 | G/A | missense variant | benign |
| rs144103777 | 4:23,814,710 | C/T | — | likely benign |
| rs202052414 | 4:23,814,713 | T/G | — | uncertain significance |
| rs1404180791 | 4:23,815,379 | C/T | — | uncertain significance |
| rs58772979 | 4:23,815,410 | G/A | — | benign |
| rs199669057 | 4:23,815,506 | A/G | — | uncertain significance |
| rs3755863 | 4:23,815,522 | C/T | synonymous variant | benign |
| rs200661963 | 4:23,815,620 | T/G | — | uncertain significance |
| rs8192678 | 4:23,815,662 | G/A | missense variant | benign |
| rs2475100210 | 4:23,815,674 | C/T | — | uncertain significance |
| rs61743310 | 4:23,815,678 | G/A | — | benign |
| rs17574213 | 4:23,815,681 | G/A | — | benign |
| rs148090593 | 4:23,815,725 | C/T | — | uncertain significance |
| rs955117051 | 4:23,815,730 | C/T | — | uncertain significance |
| rs781365309 | 4:23,815,761 | T/C | — | uncertain significance |
| rs35437002 | 4:23,815,793 | A/G | — | benign |
| rs759025415 | 4:23,815,843 | C/T | — | likely benign |
| rs2475106402 | 4:23,815,865 | T/C | — | uncertain significance |
| rs34514918 | 4:23,815,878 | G/T | — | benign |
| rs200225774 | 4:23,815,891 | T/C | — | likely benign |
| rs375868793 | 4:23,815,971 | G/A | — | uncertain significance |
| rs2475112013 | 4:23,816,019 | C/A | — | uncertain significance |
| rs755085698 | 4:23,816,047 | C/G | — | uncertain significance |
| rs1227430789 | 4:23,816,153 | G/A | — | uncertain significance |
| rs2970848 | 4:23,817,027 | A/C | — | — |
| rs2970852 | 4:23,821,523 | C/T | intron variant | — |
| rs2290602 | 4:23,825,732 | T/A | — | — |
| rs778595635 | 4:23,825,944 | G/A | — | uncertain significance |
| rs368357182 | 4:23,826,078 | A/G | — | likely benign |
| rs766859808 | 4:23,826,137 | G/A | — | likely benign |
| rs2970856 | 4:23,827,615 | G/C | — | — |
| rs144051054 | 4:23,830,168 | T/C | — | likely benign |
| rs2475399316 | 4:23,830,188 | G/C | — | uncertain significance |
| rs1411902481 | 4:23,831,093 | A/G | — | uncertain significance |
| rs1379682024 | 4:23,833,203 | G/T | — | uncertain significance |
| rs35891516 | 4:23,833,219 | G/A | — | benign |
| rs142039972 | 4:23,833,243 | C/T | — | benign |
| rs769083394 | 4:23,833,266 | C/G | — | uncertain significance |
| rs747323735 | 4:23,833,276 | C/A | — | likely benign |
| rs4697046 | 4:23,836,400 | C/T | intron variant | — |
| rs7665116 | 4:23,853,011 | T/A | — | — |
| rs10018239 | 4:23,854,891 | A/G | intron variant | — |
| rs7672915 | 4:23,856,492 | C/T | intron variant | — |
| rs12640088 | 4:23,860,814 | A/C | intron variant | — |
| rs11724368 | 4:23,862,933 | A/C | — | — |
| rs4235308 | 4:23,864,412 | T/C | intron variant | — |
| rs7656250 | 4:23,866,016 | C/G | — | — |
| rs13131226 | 4:23,874,981 | C/T | intron variant | — |
| rs10028665 | 4:23,875,834 | C/T | intron variant | — |
| rs13117172 | 4:23,880,515 | C/T | regulatory region variant | — |
| rs60876252 | 4:23,886,322 | C/T | — | benign |
| rs1280883830 | 4:23,886,419 | T/C | — | uncertain significance |
| rs897201437 | 4:23,886,477 | G/A | — | likely benign |
| rs2476512400 | 4:23,891,558 | T/G | — | uncertain significance |
| rs558170290 | 4:23,891,560 | G/A | — | likely benign |
| rs773095749 | 4:23,891,567 | A/T | — | uncertain significance |
| rs981976152 | 4:23,891,574 | A/T | — | uncertain significance |
| rs2970869 | 4:23,893,369 | T/A | — | — |
| rs7657071 | 4:23,896,474 | C/T | — | — |
| rs372822970 | 4:23,918,560 | C/T | — | — |
| rs16874919 | 4:24,065,209 | G/T | — | — |
| rs745479389 | 4:24,090,315 | A/G | — | — |
| rs571505656 | 4:24,093,112 | A/T | — | likely benign |
| rs1267015 | 4:24,151,705 | A/G | intergenic variant | — |
| rs7664421 | 4:24,338,991 | G/C | — | — |
| rs17590046 | 4:24,362,541 | T/C | intergenic variant | — |
| rs17650401 | 4:24,375,833 | C/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.