| Symbol
| UCP2
| contributors: mct/npt/pgu - updated : 28-08-2015
|
| HGNC name
| uncoupling protein 2 (mitochondrial, proton carrier)
|
| HGNC id
| 12518
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
| --over
|
| |
in cryptorchidism | | constitutional
|
|
| --low
|
| |
in skeletal muscle of obese | | constitutional
|
|
|
| gain of function
| |
causally linked to loss of glucose sensing in POMC neurons induced by a high-fat diet | | constitutional
|
| deletion
|
|
| |
prevents obesity-induced loss of glucose sensing | | constitutional
|
|
|
| loss of function
| |
in anemia | | constitutional
|
|
| --over
|
| |
associated with testicular mitochondrial dysfunction in agreement with the reported decreased fertility in aged individuals (Amaral 2008) | | constitutional
|
|
|
| gain of function
|
in pathological states such as heart failure  | | constitutional
|
|
|
| loss of function
| |
reported to improve insulin secretion of isolated islets and over-expression inhibits insulin secretion | |
| Susceptibility
|
to obesity to lipid levels in patients with type 2 diabetes to hyperglycaemia and insulin resistance in severe sepsis |
| Variant & Polymorphism
other
| G/A polymorphism in promoter decrease risk of obesity in middle-age |
|
866G/A associated with variation of insulin secretion and with dyslipidemia in patients with type 2 diabetes |
|
A55V homozygous (Val/Val) genotype increased in spina-bifida |
|
common, functional polymorphism in the promoter region of the UCP2 gene is associated with hyperglycaemia and insulin resistance in severe sepsis |
| 
|
Candidate gene
Marker
Therapy target
|
|
| System | Type | Disorder | Pubmed |
|---|
| cancer | | | |
| targeting UCP2 may offer clinical benefit in the treatment of cancer |
| | | |
|
| Gck+/- Ucp2-/- mice had improved glucose tolerance compared with Gck+/- mice |