ENSG00000140740


Homo sapiens

Features
Gene ID: ENSG00000140740
  
Biological name :UQCRC2
  
Synonyms : P22695 / ubiquinol-cytochrome c reductase core protein 2 / UQCRC2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: p12.2
Gene start: 21952660
Gene end: 21983660
  
Corresponding Affymetrix probe sets: 200883_at (Human Genome U133 Plus 2.0 Array)   212600_s_at (Human Genome U133 Plus 2.0 Array)   239465_at (Human Genome U133 Plus 2.0 Array)   241755_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000457662
Ensembl peptide - ENSP00000479799
Ensembl peptide - ENSP00000485966
Ensembl peptide - ENSP00000268379
Ensembl peptide - ENSP00000455088
Ensembl peptide - ENSP00000456232
Ensembl peptide - ENSP00000456738
Ensembl peptide - ENSP00000457600
NCBI entrez gene - 7385     See in Manteia.
OMIM - 191329
RefSeq - NM_003366
RefSeq Peptide - NP_003357
swissprot - H3BRG4
swissprot - H3BSJ9
swissprot - H3BUE4
swissprot - H3BUI9
swissprot - A0A087WVZ4
swissprot - P22695
swissprot - H3BP04
Ensembl - ENSG00000140740
  
Related genetic diseases (OMIM): 615160 - Mitochondrial complex III deficiency, nuclear type 5, 615160
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
 uqcrc2aENSDARG00000014794Danio rerio
 uqcrc2bENSDARG00000071691Danio rerio
 UQCRC2ENSGALG00000002490Gallus gallus
 Q9DB77ENSMUSG00000030884Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PMPCA / Q10713 / peptidase, mitochondrial processing alpha subunitENSG0000016568826


Protein motifs (from Interpro)
Interpro ID Name
 IPR001431  Peptidase M16, zinc-binding site
 IPR007863  Peptidase M16, C-terminal
 IPR011249  Metalloenzyme, LuxS/M16 peptidase-like
 IPR011765  Peptidase M16, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006119 oxidative phosphorylation TAS
 biological_processGO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c TAS
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006627 protein processing involved in protein targeting to mitochondrion IBA
 biological_processGO:0009060 aerobic respiration TAS
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005743 mitochondrial inner membrane TAS
 cellular_componentGO:0005750 mitochondrial respiratory chain complex III IEA
 cellular_componentGO:0005751 mitochondrial respiratory chain complex IV IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0043209 myelin sheath IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0070469 respiratory chain IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004222 metalloendopeptidase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008270 zinc ion binding IBA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Respiratory electron transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001942 Metabolic acidosis 
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 HP:0001943 Hypoglycemia "A lower than normal level of blood glucose." [HPO:curators]
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 HP:0001987 Hyperammonemia 
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 HP:0002151 Increased serum lactate "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:curators]
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 HP:0003542 Increased serum pyruvate "An abnormal increase in the concentration of pyruvate in the blood. Pyruvate is involved in energy metabolism, forming part of glycolysis and the citric acid cycle." [HPO:curators]
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 HP:0100543 Cognitive impairment "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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