UCP3
uncoupling protein 3
Summary
Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. The different UCPs have tissue-specific expression; this gene is primarily expressed in skeletal muscle. This gene's protein product is postulated to protect mitochondria against lipid-induced oxidative stress. Expression levels of this gene increase when fatty acid supplies to mitochondria exceed their oxidation capacity and the protein enables the export of fatty acids from mitochondria. UCPs contain the three solcar protein domains typically found in MACPs. Two splice variants have been found for this gene.[provided by RefSeq, Nov 2008]
Known Variants126 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs15763 | 11:73,711,477 | A/T | — | — |
| rs647126 | 11:73,712,020 | A/G | upstream gene variant | — |
| rs752808421 | 11:73,712,473 | C/T | — | uncertain significance |
| rs763155375 | 11:73,712,474 | G/A | — | conflicting classifications of pathogenicity |
| rs1375244010 | 11:73,712,485 | A/C | — | uncertain significance |
| rs757685199 | 11:73,712,491 | A/C | — | uncertain significance |
| rs139405752 | 11:73,712,513 | C/T | — | uncertain significance |
| rs2496109983 | 11:73,712,515 | T/C | — | uncertain significance |
| rs752412908 | 11:73,712,522 | C/T | — | uncertain significance |
| rs368039089 | 11:73,712,523 | G/A | — | likely benign |
| rs777203090 | 11:73,712,544 | T/C | — | likely benign |
| rs375747984 | 11:73,712,548 | A/G | — | uncertain significance |
| rs768018002 | 11:73,712,551 | C/T | — | uncertain significance |
| rs8179179 | 11:73,712,552 | G/A | — | uncertain significance |
| rs371947420 | 11:73,712,554 | A/G | — | uncertain significance |
| rs766648507 | 11:73,712,559 | G/A | — | likely benign |
| rs1685356 | 11:73,712,859 | C/T | — | benign |
| rs1726745 | 11:73,713,442 | T/G | — | — |
| rs1626521 | 11:73,714,339 | A/G | — | benign |
| rs79212763 | 11:73,714,627 | G/A | — | uncertain significance |
| rs45476292 | 11:73,714,871 | C/T | — | benign |
| rs746995996 | 11:73,714,874 | C/T | — | likely benign |
| rs781146737 | 11:73,714,891 | G/A | — | uncertain significance |
| rs745655557 | 11:73,714,897 | C/T | — | uncertain significance |
| rs976041856 | 11:73,714,903 | C/A | — | uncertain significance |
| rs755928179 | 11:73,714,965 | C/T | — | uncertain significance |
| rs772301535 | 11:73,714,972 | T/C | — | uncertain significance |
| rs138705669 | 11:73,714,978 | C/T | — | uncertain significance |
| rs777058329 | 11:73,714,979 | G/A | — | likely benign |
| rs150067246 | 11:73,714,985 | C/T | — | likely benign |
| rs763845388 | 11:73,714,986 | G/A | — | uncertain significance |
| rs2496117726 | 11:73,714,988 | G/A | — | likely benign |
| rs750367534 | 11:73,715,003 | G/A | — | likely benign |
| rs779916199 | 11:73,715,013 | C/T | — | uncertain significance |
| rs201084007 | 11:73,715,014 | C/T | — | uncertain significance |
| rs757325030 | 11:73,715,025 | G/C | — | uncertain significance |
| rs745890211 | 11:73,715,026 | C/T | — | uncertain significance |
| rs150286432 | 11:73,715,521 | G/A | — | benign |
| rs2075577 | 11:73,715,542 | G/A | synonymous variant | benign |
| rs201993988 | 11:73,715,571 | C/T | — | uncertain significance |
| rs765857744 | 11:73,715,572 | G/A | — | likely benign |
| rs149193327 | 11:73,715,581 | C/A | — | likely benign |
| rs143643530 | 11:73,715,623 | C/G | — | uncertain significance |
| rs2734828 | 11:73,715,666 | G/A | — | benign |
| rs3781907 | 11:73,716,469 | A/G | regulatory region variant | — |
| rs548098976 | 11:73,716,772 | T/C | — | likely benign |
| rs376848921 | 11:73,716,809 | G/A | — | likely benign |
| rs367566750 | 11:73,716,826 | C/T | — | uncertain significance |
| rs201679589 | 11:73,716,829 | T/C | — | uncertain significance |
| rs201405748 | 11:73,716,835 | C/T | — | uncertain significance |
| rs371369161 | 11:73,716,836 | G/A | — | likely benign |
| rs202151585 | 11:73,716,865 | C/T | — | uncertain significance |
| rs745517663 | 11:73,716,866 | G/A | — | likely benign |
| rs146814014 | 11:73,716,888 | C/T | — | uncertain significance |
| rs104894319 | 11:73,716,889 | G/A | stop gained | pathogenic |
| rs771978130 | 11:73,716,892 | C/T | — | uncertain significance |
| rs757686405 | 11:73,716,926 | C/T | — | likely benign |
| rs1047063799 | 11:73,716,930 | A/G | — | uncertain significance |
| rs747884430 | 11:73,716,933 | G/T | — | uncertain significance |
| rs140869187 | 11:73,716,950 | G/A | — | likely benign |
| rs773117397 | 11:73,716,951 | G/A | — | uncertain significance |
| rs17848372 | 11:73,716,960 | C/T | — | likely benign |
| rs2496124409 | 11:73,716,973 | T/G | — | uncertain significance |
| rs138565412 | 11:73,716,974 | G/A | — | likely benign |
| rs151034480 | 11:73,716,983 | G/A | — | likely benign |
| rs1726747 | 11:73,717,024 | A/T | — | benign |
| rs1685325 | 11:73,717,025 | T/C | — | benign |
| rs11235972 | 11:73,717,074 | G/A | intron variant | — |
| rs74907838 | 11:73,717,219 | G/A | — | uncertain significance |
| rs376385271 | 11:73,717,220 | C/G | — | uncertain significance |
| rs375891548 | 11:73,717,221 | G/A | — | uncertain significance |
| rs1473258320 | 11:73,717,229 | G/C | — | uncertain significance |
| rs777632209 | 11:73,717,238 | C/T | — | uncertain significance |
| rs2229707 | 11:73,717,247 | C/T | missense variant | pathogenic |
| rs138003678 | 11:73,717,248 | G/A | — | likely benign |
| rs143552025 | 11:73,717,253 | C/T | — | uncertain significance |
| rs1800006 | 11:73,717,254 | A/G | synonymous variant | benign |
| rs2229706 | 11:73,717,263 | G/A | — | benign |
| rs142952570 | 11:73,717,267 | C/T | — | uncertain significance |
| rs375772981 | 11:73,717,268 | G/A | — | uncertain significance |
| rs192655642 | 11:73,717,277 | C/T | — | uncertain significance |
| rs150693088 | 11:73,717,278 | G/A | — | likely benign |
| rs2496125835 | 11:73,717,282 | C/G | — | uncertain significance |
| rs749122889 | 11:73,717,292 | G/A | — | uncertain significance |
| rs777883919 | 11:73,717,302 | G/A | — | likely benign |
| rs372897619 | 11:73,717,314 | A/G | — | likely benign |
| rs776933539 | 11:73,717,315 | T/C | — | uncertain significance |
| rs1951665533 | 11:73,717,322 | G/A | — | uncertain significance |
| rs763606111 | 11:73,717,328 | A/G | — | likely benign |
| rs143786748 | 11:73,717,340 | T/G | — | uncertain significance |
| rs58614015 | 11:73,717,342 | C/T | — | uncertain significance |
| rs17848368 | 11:73,717,343 | G/A | missense variant | pathogenic |
| rs370829405 | 11:73,717,349 | T/C | — | uncertain significance |
| rs146858543 | 11:73,717,370 | C/T | — | uncertain significance |
| rs776020758 | 11:73,717,375 | C/T | — | uncertain significance |
| rs140595048 | 11:73,717,378 | T/C | — | uncertain significance |
| rs145163696 | 11:73,717,385 | C/T | — | uncertain significance |
| rs778756494 | 11:73,717,386 | G/A | — | likely benign |
| rs368703422 | 11:73,717,390 | C/T | — | uncertain significance |
| rs368049853 | 11:73,717,391 | G/A | — | uncertain significance |
Showing 100 of 126 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.