• Gene id: 7351

Gene Summary

• Gene Symbol: UCP2   Gene   UCSC   Ensembl
• Aliases: BMIQ4, SLC25A8, UCPH
• Gene name: uncoupling protein 2
• Alternate names: mitochondrial uncoupling protein 2, solute carrier family 25 member 8, uncoupling protein 2 (mitochondrial, proton carrier),
• Gene location: 11q13.4 (73982871: 73974670)     Exons: 8     NC_000011.10
• Gene summary(Entrez): 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 proto
• OMIM: 601693

SNPs

rs2267437

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.41620695C>A
NC_000022.11   g.41620695C>G
NC_000022.10   g.42016699C>A
NC_000022.10   g.42016699C>G|SEQ=[C/A/G]|GENE=XRCC6
DESI1   27351

Protein Summary

• Protein general information: P55851  
  • Name: Mitochondrial uncoupling protein 2 (UCP 2) (Solute carrier family 25 member 8) (UCPH)
  • Length: 309  
  • Mass: 33229
  • Tissue specificity: Widely expressed in adult human tissues, including tissues rich in macrophages. Most expressed in white adipose tissue and skeletal muscle.
• Sequence:

  MVGFKATDVPPTATVKFLGAGTAACIADLITFPLDTAKVRLQIQGESQGPVRATASAQYRGVMGTILTMVRTEGP
  RSLYNGLVAGLQRQMSFASVRIGLYDSVKQFYTKGSEHASIGSRLLAGSTTGALAVAVAQPTDVVKVRFQAQARA
  GGGRRYQSTVNAYKTIAREEGFRGLWKGTSPNVARNAIVNCAELVTYDLIKDALLKANLMTDDLPCHFTSAFGAG
  FCTTVIASPVDVVKTRYMNSALGQYSSAGHCALTMLQKEGPRAFYKGFMPSFLRLGSWNVVMFVTYEQLKRALMA
  ACTSREAPF

• Structural information:
  • Interpro: IPR002030  IPR018108  IPR023395  
  • Prosite: PS50920
  • STRING: ENSP00000312029
• Other Databases: GeneCards:  UCP2  Malacards:  UCP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001666	response to hypoxia	IDA	biological process
GO:0009409	response to cold	IBA	biological process
GO:0017077	oxidative phosphorylation uncoupler activity	IBA	molecular function
GO:1990542	mitochondrial transmembrane transport	IBA	biological process
GO:1990845	adaptive thermogenesis	IBA	biological process
GO:0006839	mitochondrial transport	IEA	biological process
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	NAS	cellular component
GO:1902600	proton transmembrane transport	TAS	biological process
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:1902600	proton transmembrane transport	TAS	biological process
GO:1902600	proton transmembrane transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process

Diseases

Associated diseases	References
Genetic obesity	KEGG:H02106
Genetic obesity	KEGG:H02106
Non-alcoholic fatty liver disease	PMID:18308829
Hypertension	PMID:15106800
Huntington's disease	PMID:23029535
Carotid artery disease	PMID:15604415
Diabetic neuropathy	PMID:16373902
obesity	PMID:11381268
obesity	PMID:17870627
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Oligozoospermia	MIK: 21989496
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
21989496	Oligozoospermia			11 (8 infertile and 3 fertile men)	Male infertility	Microarray