UCP2 uncoupling protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UCP2provided by HGNC
Official Full Name: uncoupling protein 2provided by HGNC
Primary source: HGNC:HGNC:12518
See related: Ensembl:ENSG00000175567 MIM:601693; AllianceGenome:HGNC:12518
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: UCPH; BMIQ4; SLC25A8
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. 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]
Expression: Broad expression in lymph node (RPKM 136.6), spleen (RPKM 105.7) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.4

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (73974672..73983202, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (73903817..73912347, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (73685717..73694247, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Comprehensive Pan-Cancer Analysis of the Mitochondrial Uncoupling Protein UCP2, with a Focus on Sex and Gender-Related Aspects.
Title: A Comprehensive Pan-Cancer Analysis of the Mitochondrial Uncoupling Protein UCP2, with a Focus on Sex and Gender-Related Aspects.
Differential regulation of mitochondrial uncoupling protein 2 in cancer cells.
Title: Differential regulation of mitochondrial uncoupling protein 2 in cancer cells.
UCP2 promotes NSCLC proliferation and glycolysis via the mTOR/HIF-1alpha signaling.
Title: UCP2 promotes NSCLC proliferation and glycolysis via the mTOR/HIF-1α signaling.
CircUCP2 promotes the tumor progression of non-small cell lung cancer through the miR-149/UCP2 pathway.
Title: CircUCP2 promotes the tumor progression of non-small cell lung cancer through the miR-149/UCP2 pathway.
Role of UCP2 in the Energy Metabolism of the Cancer Cell Line A549.
Title: Role of UCP2 in the Energy Metabolism of the Cancer Cell Line A549.
Expressions of mRNA and encoded proteins of mitochondrial uncoupling protein genes (UCP1, UCP2, and UCP3) in epicardial and mediastinal adipose tissue and associations with coronary artery disease.
Title: Expressions of mRNA and encoded proteins of mitochondrial uncoupling protein genes (UCP1, UCP2, and UCP3) in epicardial and mediastinal adipose tissue and associations with coronary artery disease.
Association between Polymorphism of Genes IL-1A, NFKB1, PAR1, TP53, and UCP2 and Susceptibility to Non-Small Cell Lung Cancer in the Brazilian Amazon.
Title: Association between Polymorphism of Genes IL-1A, NFKB1, PAR1, TP53, and UCP2 and Susceptibility to Non-Small Cell Lung Cancer in the Brazilian Amazon.
Mitochondrial uncoupling protein 2 (UCP2) gene polymorphism - 866 G/A in the promoter region is associated with type 2 diabetes mellitus among Kashmiri population of Northern India.
Title: Mitochondrial uncoupling protein 2 (UCP2) gene polymorphism - 866 G/A in the promoter region is associated with type 2 diabetes mellitus among Kashmiri population of Northern India.
UCP2 as a Cancer Target through Energy Metabolism and Oxidative Stress Control.
Title: UCP2 as a Cancer Target through Energy Metabolism and Oxidative Stress Control.
Relationships between Uncoupling Protein Genes UCP1, UCP2 and UCP3 and Irisin Levels in Residents of the Coldest Region of Siberia.
Title: Relationships between Uncoupling Protein Genes UCP1, UCP2 and UCP3 and Irisin Levels in Residents of the Coldest Region of Siberia.

Submit: New GeneRIF Correction See all GeneRIFs (309)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Body mass index quantitative trait locus 4 MedGen: C1843898 OMIM: 607447 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC310777P17 (e-PCR)
- UniSTS:272684

PMC310777P18 (e-PCR)
- UniSTS:272685

UCP2 (e-PCR)
- UniSTS:480077

D11S4464 (e-PCR), detects polymorphism
- UniSTS:8547

D11S1998 (e-PCR), detects polymorphism
- UniSTS:13280

WI-13873 (e-PCR)
- UniSTS:40437

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GDP binding	IEA Inferred from Electronic Annotation more info
enables L-aspartate transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables chloride transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables malate transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables oxaloacetate transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables oxidative phosphorylation uncoupler activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphate ion uniporter activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables proton transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables secondary active sulfate transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in C4-dicarboxylate transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in L-aspartate transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in adaptive thermogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to amino acid starvation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to glucose stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to insulin stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to lead ion	IEA Inferred from Electronic Annotation more info
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in glutamine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycolytic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in liver regeneration	IEA Inferred from Electronic Annotation more info
involved_in long-chain fatty acid transport	IEA Inferred from Electronic Annotation more info
involved_in macrophage differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in malate transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial fission	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrial transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of calcium import into the mitochondrion	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of insulin secretion involved in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in oxaloacetate(2-) transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in proton transmembrane transport	TAS Traceable Author Statement more info	PubMed
involved_in reactive oxygen species metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of mitochondrial membrane potential	IEA Inferred from Electronic Annotation more info
involved_in response to cold	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to dexamethasone	IEA Inferred from Electronic Annotation more info
involved_in response to fatty acid	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in response to superoxide	IEA Inferred from Electronic Annotation more info
involved_in sulfate transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: dicarboxylate carrier SLC25A8

Names: mitochondrial uncoupling protein 2; solute carrier family 25 member 8; uncoupling protein 2 (mitochondrial, proton carrier)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011478.1 RefSeqGene

Range

5002..13173

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001381943.1 → NP_001368872.1 dicarboxylate carrier SLC25A8 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1-6 all encode the same isoform (a).

Source sequence(s)

AP003717

Consensus CDS

CCDS8228.1

UniProtKB/Swiss-Prot

P55851, Q4PJH8, Q53HM3

Conserved Domains (1) summary

pfam00153
Location:112 → 206

Mito_carr; Mitochondrial carrier protein
NM_001381944.1 → NP_001368873.1 dicarboxylate carrier SLC25A8 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-6 all encode the same isoform (a).

Source sequence(s)

AP003717

Consensus CDS

CCDS8228.1

UniProtKB/Swiss-Prot

P55851, Q4PJH8, Q53HM3

Conserved Domains (1) summary

pfam00153
Location:112 → 206

Mito_carr; Mitochondrial carrier protein
NM_001381945.1 → NP_001368874.1 dicarboxylate carrier SLC25A8 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-6 all encode the same isoform (a).

Source sequence(s)

AP003717

Consensus CDS

CCDS8228.1

UniProtKB/Swiss-Prot

P55851, Q4PJH8, Q53HM3

Related

ENSP00000312029.3, ENST00000310473.10

Conserved Domains (1) summary

pfam00153
Location:112 → 206

Mito_carr; Mitochondrial carrier protein
NM_001381947.1 → NP_001368876.1 dicarboxylate carrier SLC25A8 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-6 all encode the same isoform (a).

Source sequence(s)

AP003717

Consensus CDS

CCDS8228.1

UniProtKB/Swiss-Prot

P55851, Q4PJH8, Q53HM3

Conserved Domains (1) summary

pfam00153
Location:112 → 206

Mito_carr; Mitochondrial carrier protein
NM_001381948.1 → NP_001368877.1 dicarboxylate carrier SLC25A8 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1-6 all encode the same isoform (a).

Source sequence(s)

AP003717

Consensus CDS

CCDS8228.1

UniProtKB/Swiss-Prot

P55851, Q4PJH8, Q53HM3

Conserved Domains (1) summary

pfam00153
Location:112 → 206

Mito_carr; Mitochondrial carrier protein
NM_001381949.1 → NP_001368878.1 dicarboxylate carrier SLC25A8 isoform b

Status: REVIEWED

Source sequence(s)

AP003717

Conserved Domains (1) summary

pfam00153
Location:10 → 111

Mito_carr; Mitochondrial carrier protein
NM_001381950.1 → NP_001368879.1 dicarboxylate carrier SLC25A8 isoform c

Status: REVIEWED

Source sequence(s)

AP003717

Conserved Domains (1) summary

pfam00153
Location:10 → 111

Mito_carr; Mitochondrial carrier protein
NM_003355.3 → NP_003346.2 dicarboxylate carrier SLC25A8 isoform a

See identical proteins and their annotated locations for NP_003346.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-6 all encode the same isoform (a).

Source sequence(s)

AP003717

Consensus CDS

CCDS8228.1

UniProtKB/Swiss-Prot

P55851, Q4PJH8, Q53HM3

Related

ENSP00000499695.1, ENST00000663595.2

Conserved Domains (1) summary

pfam00153
Location:112 → 206

Mito_carr; Mitochondrial carrier protein