Entity Details

Primary name COQ7
Entity type gene
Source Source Link

Details

PrimaryID10229
RefseqGeneNG_046596
SymbolCOQ7
Namecoenzyme Q7, hydroxylase
Chromosome16
Location16p12.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-08-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCOQ7_HUMAN

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0003682 chromatin binding
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0006744 ubiquinone biosynthetic process
GO:0008340 determination of adult lifespan
GO:0008682 2-octoprenyl-3-methyl-6-methoxy-1,4-benzoquinone hydroxylase activity
GO:0010468 regulation of gene expression
GO:0016709 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen
GO:0031314 extrinsic component of mitochondrial inner membrane
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046872 metal ion binding
GO:2000377 regulation of reactive oxygen species metabolic process

Diseases

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Disease IDSourceNameDescription
616733 OMIMCoenzyme Q10 deficiency, primary, 8 (COQ10D8)An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10. Patients manifest neonatal lung hypoplasia, contractures, early infantile hypertension and cardiac hypertrophy, secondary to prenatal kidney dysplasia, with neonatal and infantile renal dysfunction. Clinical features also include progressive peripheral neuropathy, muscular hypotonia and atrophy, and mild psychomotor delay with hearing and visual impairment. The disease is caused by variants affecting the gene represented in this entry.

Interactions

43 interactions

InteractorPartnerSourcesPublicationsLink
COQ7COQ3BioGRID, IntAct27499296 details
COQ7COQ4BioGRID, IntAct27499296 details
COQ7COQ5BioGRID, IntAct27499296 details
COQ7COQ6IntAct27499296 details
COQ7COQ9BioGRID, IntAct27499296 details
COQ7COQ8ABioGRID, IntAct27499296 details
COQ7TRMT1IntAct27499296 details
COQ7ATP5F1BIntAct27499296 details
COQ7C1QBPBioGRID, IntAct27499296 details
COQ7SHMT2IntAct27499296 details
COQ7CYCSBioGRID, IntAct27499296 details
COQ7ARF1IntAct27499296 details
COQ7CHCHD2BioGRID, IntAct27499296 details
COQ7SLC25A6IntAct27499296 details
COQ7ATAD3BIntAct27499296 details
COQ7BOLA3BioGRID, IntAct27499296 details
COQ7PTPMT1BioGRID, IntAct27499296 details
COQ7NIPSNAP2IntAct27499296 details
COQ7NDUFS2IntAct27499296 details
COQ7ETFAIntAct27499296 details
COQ7NRDCBioGRID, IntAct27499296 details
COQ7COQ8BBioGRID, IntAct27499296 details
COQ7GAPDHIntAct27499296 details
COQ7HSPD1IntAct27499296 details
COQ7HSPA9IntAct27499296 details
COQ7FASNIntAct27499296 details
COQ7SSBP1IntAct27499296 details
COQ7ABHD10IntAct27499296 details
COQ7ALDH1L1IntAct27499296 details
COQ7POLDIP2BioGRID, IntAct27499296 details
COQ7IDEBioGRID, IntAct27499296 details
COQ7ECH1BioGRID, IntAct27499296 details
COQ7P4HBIntAct27499296 details
COQ7GLUD1IntAct27499296 details
COQ7RCN2IntAct27499296 details
COQ7PMPCBBioGRID, IntAct27499296 details
COQ7PMPCABioGRID, IntAct27499296 details
COQ7COQ7BioGRID27499296 details
COQ7GLRX5BioGRID27499296 details
COQ7PITRM1BioGRID27499296 details
COQ7ATP5F1CBioGRID27499296 details
COQ7ATP5F1EBioGRID27499296 details
COQ7APEX1BioGRID28986522 details