UCP2 Chromosome 11
Uncoupling protein 2
Upload your DNA to see your personal genotypes for variants in UCP2.
What This Gene Does
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. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed in many tissues, with the greatest expression in skeletal muscle. It is thought to play a role in nonshivering thermogenesis, obesity and diabetes. Chromosomal order is 5'-UCP3-UCP2-3'. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Solute carrier family 25
Locus Type
gene with protein product
Location
11q13.4
Ensembl
ENSG00000175567
Associated Conditions (2)
UCP2-related disorder
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4
Key Variants
RS114649509
Conflicting classifications of pathogenicity
Health Risk
RS145662569
Conflicting classifications of pathogenicity
UCP2-related disorder, UCP2-related disorder
Health Risk
RS45524433
Conflicting classifications of pathogenicity
UCP2-related disorder, UCP2-related disorder
Health Risk
RS659366
risk factor
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114649509 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145662569 | Health Risk | Conflicting classifications of pathogenicity | UCP2-related disorder, UCP2-related disorder |
| RS45524433 | Health Risk | Conflicting classifications of pathogenicity | UCP2-related disorder, UCP2-related disorder |
| RS659366 | Health Risk | risk factor | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 |