ENSG00000167113


Homo sapiens

Features
Gene ID: ENSG00000167113
  
Biological name :COQ4
  
Synonyms : coenzyme Q4 / COQ4 / Q9Y3A0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: q34.11
Gene start: 128322536
Gene end: 128334072
  
Corresponding Affymetrix probe sets: 218328_at (Human Genome U133 Plus 2.0 Array)   228931_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000300452
Ensembl peptide - ENSP00000361966
Ensembl peptide - ENSP00000476323
Ensembl peptide - ENSP00000477292
NCBI entrez gene - 51117     See in Manteia.
OMIM - 612898
RefSeq - XM_017014793
RefSeq - NM_001305942
RefSeq - NM_016035
RefSeq - XM_017014792
RefSeq Peptide - NP_001292871
RefSeq Peptide - NP_057119
swissprot - Q5T4B9
swissprot - Q9Y3A0
swissprot - V9GY32
swissprot - V9GZ09
Ensembl - ENSG00000167113
  
Related genetic diseases (OMIM): 616276 - Coenzyme Q10 deficiency, primary, 7, 616276
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
 coq4ENSDARG00000104733Danio rerio
 COQ4ENSGALG00000004927Gallus gallus
 Coq4ENSMUSG00000026798Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR007715  Ubiquinone biosynthesis protein Coq4
 IPR027540  Ubiquinone biosynthesis protein Coq4, eukaryotes


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006744 ubiquinone biosynthetic process IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005743 mitochondrial inner membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0032991 protein-containing complex IDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


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: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:0001319 Neonatal hypotonia "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators]
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 HP:0001321 Cerebellar hypoplasia 
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 HP:0001511 Intrauterine growth retardation 
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 HP:0001639 Hypertrophic cardiomyopathy 
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 HP:0001643 Patent ductus arteriosus 
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 HP:0001662 Bradycardia 
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 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
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 HP:0002093 Respiratory insufficiency 
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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:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0200134 Epileptic encephalopathy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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