UCP2 Gene - Uncoupling Protein 2
Mitochondrial uncoupling protein 2: roles in metabolism, oxidative stress, and disease
Gene Information Card
| Symbol | UCP2 |
|---|---|
| Full Name | Uncoupling Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 7351 ncbi.nlm.nih.gov/gene/7351 |
| Ensembl ID | ENSG00000175567 |
| UniProt ID | P55851 |
| OMIM ID | 601693 |
| HGNC ID | 12518 |
| Aliases | UCPH, BMIQ4, SLC25A8 |
Description
UCP2 encodes uncoupling protein 2, a member of the mitochondrial anion carrier protein family. It is located in the inner mitochondrial membrane and facilitates proton leak, thereby uncoupling oxidative phosphorylation from ATP synthesis. UCP2 is widely expressed and plays roles in energy metabolism, reactive oxygen species (ROS) regulation, and insulin secretion. It has been implicated in obesity, type 2 diabetes, and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | UCP2 polymorphisms (e.g., -866G/A) affect gene expression, influencing energy expenditure and fat accumulation. | ClinVar, PMID: 14508507 |
| Type 2 Diabetes | UCP2 overexpression in pancreatic beta cells reduces ATP production, impairing glucose-stimulated insulin secretion. | PMID: 11274056 |
| Atherosclerosis | UCP2 modulates ROS production in macrophages, affecting foam cell formation and plaque progression. | PMID: 16567567 |
| Cancer | UCP2 promotes metabolic reprogramming in cancer cells, enhancing survival under oxidative stress. | COSMIC, PMID: 23185005 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.3 | Medium |
| Pancreas | 10.1 | Medium |
| Liver | 8.5 | Low |
| Heart | 7.2 | Low |
| Brain | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| HepG2 | 12.8 | Moderate expression |
| MCF7 | 9.5 | Low expression |
| A549 | 11.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs659366 (-866G/A) | SNP | ~30% in some populations | Alters promoter activity; associated with obesity and diabetes risk |
| rs660339 (Ala55Val) | Missense | ~40% in some populations | May affect protein function; linked to metabolic traits |
| c.164C>T (p.Pro55Leu) | Missense | Rare | Potential impact on protein stability; clinical significance uncertain |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in UCP2 are rare; they may lead to increased ROS production and impaired insulin secretion, but no well-characterized pathogenic variants are documented.
Gain of Function (GOF)
Gain-of-function variants (e.g., -866A allele) increase UCP2 expression, potentially reducing ATP synthesis and contributing to metabolic disorders.
Dominant Negative (DN)
No dominant-negative mutations have been reported for UCP2.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial uncoupling protein activity | • proton transmembrane transporter activity |
| • mitochondrial inner membrane | • response to oxidative stress |
| • regulation of insulin secretion | • energy homeostasis |
Pathways
• Thermogenesis
• Uncoupling proteins pathway
• Oxidative phosphorylation (uncoupling)
• Reactive oxygen species (ROS) metabolism
Protein Summary
Uncoupling protein 2 (UCP2) is a 309-amino acid protein with six transmembrane domains, localized to the inner mitochondrial membrane. It mediates proton leak, reducing the mitochondrial membrane potential and ATP synthesis. UCP2 also regulates ROS production and calcium homeostasis. It is expressed in multiple tissues, with highest levels in spleen, pancreas, and immune cells. UCP2 has been implicated in metabolic diseases, neurodegeneration, and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UCP2 Knockout HEK293 Cell Line | EDJ-KQ2339 | Human | 7351 | Details Get a Quote |
| UCP2 Knockout A-549 Cell Line | EDJ-KQ22752 | Human | 7351 | Details Get a Quote |
| UCP2 Knockout HCT 116 Cell Line | EDJ-KQ22753 | Human | 7351 | Details Get a Quote |
| UCP2 Knockout HeLa Cell Line | EDJ-KQ22754 | Human | 7351 | Details Get a Quote |
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