ENSG00000175567


Homo sapiens

Features
Gene ID: ENSG00000175567
  
Biological name :UCP2
  
Synonyms : P55851 / UCP2 / uncoupling protein 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q13.4
Gene start: 73974667
Gene end: 73983307
  
Corresponding Affymetrix probe sets: 208997_s_at (Human Genome U133 Plus 2.0 Array)   208998_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000439951
Ensembl peptide - ENSP00000441147
Ensembl peptide - ENSP00000312029
Ensembl peptide - ENSP00000438230
Ensembl peptide - ENSP00000439706
NCBI entrez gene - 7351     See in Manteia.
OMIM - 601693
RefSeq - NM_003355
RefSeq Peptide - NP_003346
swissprot - F5H312
swissprot - H0YFQ0
swissprot - H0YFR8
swissprot - A0A024R5N5
swissprot - P55851
swissprot - F5GX45
Ensembl - ENSG00000175567
  
Related genetic diseases (OMIM): 607447 - {Obesity, susceptibility to, BMIQ4}, 607447
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ucp2ENSDARG00000043154Danio rerio
 Ucp2ENSMUSG00000033685Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
UCP3 / P55916 / uncoupling protein 3ENSG0000017556473
UCP1 / P25874 / uncoupling protein 1ENSG0000010942457
O95258 / SLC25A14 / solute carrier family 25 member 14ENSG0000010207836
Q5SVS4 / SLC25A30 / solute carrier family 25 member 30ENSG0000017403236
O95847 / SLC25A27 / solute carrier family 25 member 27ENSG0000015329132
Q02978 / SLC25A11 / solute carrier family 25 member 11ENSG0000010852831
AC139530.2ENSG0000026266031
Q9UBX3 / SLC25A10 / solute carrier family 25 member 10ENSG0000018304824


Protein motifs (from Interpro)
Interpro ID Name
 IPR002030  Mitochondrial carrier UCP-like
 IPR018108  Mitochondrial substrate/solute carrier
 IPR023395  Mitochondrial carrier domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000303 response to superoxide IEA
 biological_processGO:0001666 response to hypoxia IDA
 biological_processGO:0006839 mitochondrial transport IEA
 biological_processGO:0007565 female pregnancy IEA
 biological_processGO:0007568 aging IEA
 biological_processGO:0009409 response to cold IBA
 biological_processGO:0009749 response to glucose IEA
 biological_processGO:0010942 positive regulation of cell death IEA
 biological_processGO:0032869 cellular response to insulin stimulus IEA
 biological_processGO:0032870 cellular response to hormone stimulus IEA
 biological_processGO:0034198 cellular response to amino acid starvation IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0051881 regulation of mitochondrial membrane potential IEA
 biological_processGO:0061179 negative regulation of insulin secretion involved in cellular response to glucose stimulus IEA
 biological_processGO:0070542 response to fatty acid IEA
 biological_processGO:0071333 cellular response to glucose stimulus IEA
 biological_processGO:0097421 liver regeneration IEA
 biological_processGO:1902600 proton transmembrane transport TAS
 biological_processGO:1990542 mitochondrial transmembrane transport IBA
 biological_processGO:1990845 adaptive thermogenesis IBA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005743 mitochondrial inner membrane NAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031966 mitochondrial membrane IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017077 oxidative phosphorylation uncoupler activity IBA


Pathways (from Reactome)
Pathway description
The fatty acid cycling model
The proton buffering model


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000713 Agitation 
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 HP:0000825 Hyperinsulinemic hypoglycemia 
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 HP:0000975 Hyperhidrosis "An abnormally increased perspiration." [HPO:probinson]
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 HP:0000980 Pallor 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001254 Lethargy 
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 HP:0001259 Coma 
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001520 Large for gestational age "The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age." [HPO:curators]
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 HP:0001649 Tachycardia "A rapid heartrate that exceeds the range of the normal resting heartrate for age." [HPO:curators]
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 HP:0001985 Hypoketotic hypoglycemia 
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 HP:0001998 Neonatal hypoglycemia 
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 HP:0002013 Vomiting 
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 HP:0002014 Diarrhea 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002329 Drowsiness 
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 HP:0002344 Progressive neurologic deterioration 
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 HP:0004359 Abnormality of fatty-acid metabolism 
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 HP:0004510 Islets of Langerhans hyperplasia 
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 HP:0008240 Secondary growth hormone deficiency 
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 HP:0100503 Vitamin B1 deficiency 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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