PPARGC1B
PPARG coactivator 1 beta
Summary
The protein encoded by this gene stimulates the activity of several transcription factors and nuclear receptors, including estrogen receptor alpha, nuclear respiratory factor 1, and glucocorticoid receptor. The encoded protein may be involved in fat oxidation, non-oxidative glucose metabolism, and the regulation of energy expenditure. This protein is downregulated in prediabetic and type 2 diabetes mellitus patients. Certain allelic variations in this gene increase the risk of the development of obesity. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Known Variants129 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs62382271 | 5:149,109,479 | C/T | — | benign |
| rs779135115 | 5:149,109,921 | T/C | — | uncertain significance |
| rs746834137 | 5:149,109,927 | G/A | — | uncertain significance |
| rs1023798345 | 5:149,109,944 | G/T | — | uncertain significance |
| rs139126281 | 5:149,109,967 | A/G | — | uncertain significance |
| rs62382272 | 5:149,110,966 | A/C | regulatory region variant | — |
| rs1076064 | 5:149,112,166 | A/G | regulatory region variant | — |
| rs10050761 | 5:149,113,714 | G/C | downstream gene variant | — |
| rs147969971 | 5:149,136,339 | G/A | intron variant | — |
| rs6895869 | 5:149,140,359 | A/G | regulatory region variant | — |
| rs9285640 | 5:149,142,067 | G/C | — | — |
| rs13174179 | 5:149,150,671 | G/A | intron variant | — |
| rs4705374 | 5:149,151,319 | C/T | — | benign |
| rs4705375 | 5:149,151,448 | A/T | — | benign |
| rs73796250 | 5:149,151,707 | G/A | — | benign |
| rs1469042 | 5:149,157,314 | A/T | — | — |
| rs251468 | 5:149,194,485 | C/T | intron variant | — |
| rs251464 | 5:149,196,234 | G/C | intron variant | — |
| rs32589 | 5:149,199,889 | A/G | — | benign |
| rs45518035 | 5:149,200,008 | G/A | — | benign |
| rs200815092 | 5:149,200,042 | T/G | — | uncertain significance |
| rs32588 | 5:149,200,043 | T/C | synonymous variant | benign |
| rs145669017 | 5:149,200,084 | C/T | — | uncertain significance |
| rs775566896 | 5:149,200,144 | G/A | — | uncertain significance |
| rs17462080 | 5:149,200,402 | A/G | — | benign |
| rs113661189 | 5:149,200,453 | G/C | — | benign |
| rs741581 | 5:149,202,785 | G/A | intron variant | — |
| rs32582 | 5:149,205,417 | C/A | intron variant | — |
| rs2003604 | 5:149,205,940 | G/A | — | benign |
| rs741582 | 5:149,205,992 | G/A | — | benign |
| rs11749124 | 5:149,206,104 | G/A | — | benign |
| rs750870909 | 5:149,206,263 | G/C | — | uncertain significance |
| rs545702255 | 5:149,206,299 | G/A | — | uncertain significance |
| rs150279088 | 5:149,206,308 | G/A | — | uncertain significance |
| rs372749476 | 5:149,206,357 | C/T | — | uncertain significance |
| rs1223311380 | 5:149,206,374 | C/G | — | uncertain significance |
| rs147532359 | 5:149,206,391 | C/G | — | benign |
| rs769403631 | 5:149,206,444 | C/T | — | uncertain significance |
| rs45560442 | 5:149,206,531 | G/A | — | benign |
| rs1028095301 | 5:149,210,360 | C/G | — | uncertain significance |
| rs147369640 | 5:149,210,376 | A/G | — | uncertain significance |
| rs32579 | 5:149,210,848 | C/T | intron variant | — |
| rs7732671 | 5:149,212,243 | G/C | missense variant | benign |
| rs774406438 | 5:149,212,340 | C/T | — | uncertain significance |
| rs45520937 | 5:149,212,430 | A/G | — | benign |
| rs17572019 | 5:149,212,471 | G/A | missense variant | benign |
| rs1379135582 | 5:149,212,498 | G/T | — | uncertain significance |
| rs2480276792 | 5:149,212,507 | A/G | — | uncertain significance |
| rs11959820 | 5:149,212,510 | C/A | — | benign |
| rs767117783 | 5:149,212,523 | C/G | — | uncertain significance |
| rs200690044 | 5:149,212,598 | A/G | — | uncertain significance |
| rs760407336 | 5:149,212,613 | G/A | — | uncertain significance |
| rs45470697 | 5:149,212,624 | C/T | — | benign |
| rs755254703 | 5:149,212,645 | T/C | — | uncertain significance |
| rs77687445 | 5:149,212,687 | G/A | — | benign |
| rs45526537 | 5:149,212,724 | C/T | — | benign |
| rs767776674 | 5:149,212,759 | C/T | — | uncertain significance |
| rs141168409 | 5:149,212,795 | C/T | — | uncertain significance |
| rs372252657 | 5:149,212,799 | C/T | — | uncertain significance |
| rs32577 | 5:149,212,800 | A/G | — | benign |
| rs45519432 | 5:149,212,802 | C/A | — | benign |
| rs773687355 | 5:149,212,807 | G/A | — | uncertain significance |
| rs150104714 | 5:149,212,846 | G/A | — | uncertain significance |
| rs368679187 | 5:149,212,864 | C/T | — | uncertain significance |
| rs141717472 | 5:149,212,897 | C/A | — | likely benign |
| rs144236856 | 5:149,213,001 | G/T | — | uncertain significance |
| rs142359633 | 5:149,213,053 | G/C | — | uncertain significance |
| rs149840777 | 5:149,213,113 | G/A | — | likely benign |
| rs201665839 | 5:149,213,123 | C/T | — | uncertain significance |
| rs45549037 | 5:149,213,135 | C/T | — | benign |
| rs528503189 | 5:149,213,188 | G/C | — | uncertain significance |
| rs1201997140 | 5:149,213,191 | G/C | — | uncertain significance |
| rs12659862 | 5:149,213,217 | C/T | — | benign |
| rs2480285244 | 5:149,213,315 | C/T | — | uncertain significance |
| rs32576 | 5:149,213,456 | A/G | intron variant | benign |
| rs12652075 | 5:149,214,167 | C/T | — | benign |
| rs1024978 | 5:149,214,377 | C/T | — | benign |
| rs1024979 | 5:149,214,587 | G/A | — | benign |
| rs898826142 | 5:149,214,893 | A/G | — | uncertain significance |
| rs45458196 | 5:149,214,906 | A/G | — | benign |
| rs45438991 | 5:149,214,936 | A/G | — | benign |
| rs32575 | 5:149,215,213 | C/G | — | benign |
| rs62382347 | 5:149,215,652 | G/A | — | benign |
| rs2480300045 | 5:149,215,856 | A/T | — | uncertain significance |
| rs751120539 | 5:149,215,952 | A/G | — | uncertain significance |
| rs1450705357 | 5:149,215,963 | G/A | — | uncertain significance |
| rs1759078681 | 5:149,215,966 | G/C | — | uncertain significance |
| rs779270704 | 5:149,216,000 | G/A | — | uncertain significance |
| rs1488185821 | 5:149,216,015 | C/G | — | uncertain significance |
| rs778591092 | 5:149,216,024 | G/A | — | uncertain significance |
| rs747080012 | 5:149,216,114 | G/A | — | uncertain significance |
| rs2480303681 | 5:149,216,207 | C/T | — | uncertain significance |
| rs745645815 | 5:149,216,209 | G/A | — | uncertain significance |
| rs771954512 | 5:149,216,218 | G/A | — | uncertain significance |
| rs45588534 | 5:149,216,256 | C/T | — | benign |
| rs374392758 | 5:149,216,257 | G/A | — | uncertain significance |
| rs149663552 | 5:149,216,276 | C/T | — | likely benign |
| rs45543631 | 5:149,216,304 | C/T | — | benign |
| rs771936747 | 5:149,216,338 | G/C | — | uncertain significance |
| rs149078416 | 5:149,216,356 | C/G | — | uncertain significance |
Showing 100 of 129 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.