COQ6 (coenzyme Q6, monooxygenase)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 51004
Gene name Coenzyme Q6, monooxygenase
Gene symbol COQ6
Synonyms (NCBI Gene)
CGI-10CGI10COQ10D6
Chromosome 14
Chromosome location 14q24.3
Summary The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain,
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs45496292 A>G Conflicting-interpretations-of-pathogenicity Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
miRNA miRNA information provided by mirtarbase database.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT023583 hsa-miR-1-3p Proteomics 18668040
MIRT038047 hsa-miR-423-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004497 Function Monooxygenase activity IEA
GO:0005515 Function Protein binding IPI 27499296
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614647 20233 ENSG00000119723
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2Z9
Protein name Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial (EC 1.14.15.45) (2-methoxy-6-polyprenolphenol 4-hydroxylase) (EC 1.14.15.46) (Coenzyme Q10 monooxygenase 6)
Protein function FAD-dependent monooxygenase required for two non-consecutive steps during ubiquinone biosynthesis (PubMed:26260787, PubMed:38425362). Required for the C5-ring hydroxylation during ubiquinone biosynthesis by catalyzing the hydroxylation of 4-hydr
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01494 FAD_binding_3 188 → 316 FAD binding domain Family
PF01494 FAD_binding_3 328 → 427 FAD binding domain Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:21540551}.
Sequence 
MAARLVSRCGAVRAAPHSGPLVSWRRWSGASTDTVYDVVVSGGGLVGAAMACALGYDIHF
HDKKILLLEAGPKKVLEKLSETYSNRVSSISPGSATLLSSFGAWDHICNMRYRAFRRMQV
WDACSEALIMFDKDNLDDMGYIVENDVIMHALTKQLEAVSDRVTVLYRSKAIRYTWPCPF
PMADSSPWVHITLGDGSTFQTKLLIGADGHNSGVRQAVGIQNVSWNYDQSAVVATLHLSE
ATENNVAWQRFLPSGPIALLPLSDTLSSLVWSTSHEHAAELVSMDEEKFVDAVNSAFWSD
ADHTDFIDTAGAMLQYAVSLLKPTKVSARQLPPSVARVDAKSRVLFPLGLGHAAEYVRPR
VALIGDAAHRVHPLAGQGVNMGFGDISSLAHHLSTAAFNGKDLGSVSHLTGYETERQRHN
TALLAATDLLKRLYSTSASPLVLLRTWGLQATNAVSPLKEQIMAFASK
Sequence length 468
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Ubiquinone and other terpenoid-quinone biosynthesis
Metabolic pathways
Biosynthesis of cofactors 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Likely pathogenic; Pathogenic rs376848848 RCV005929964
Familial steroid-resistant nephrotic syndrome with sensorineural deafness Pathogenic; Likely pathogenic rs2140404268, rs559873718, rs376848848, rs1057519349, rs1057519350, rs1057519351, rs397514479, rs189840848, rs1064796212, rs1555358729, rs371260604, rs367817034, rs1594816203, rs746839544 RCV001780575
RCV001780865
RCV002227786
RCV000416383
RCV000416398
RCV000416396
RCV000024300
RCV000024303
RCV005860086
RCV000500231
RCV000995743
RCV000995744
RCV000995745
RCV001280951
Show/Hide Unknown Diseases (10)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Benign; Likely benign rs148444170 RCV005904500
Cholangiocarcinoma Benign rs145747095 RCV005925299
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity; Uncertain significance rs45496292, rs367817034 RCV005893487
RCV005926673
COQ6-related disorder Conflicting classifications of pathogenicity; Likely benign; Benign rs139010315, rs144880038, rs186482754, rs200558787, rs17094161, rs781215265, rs1481387350, rs45496292, rs368151590, rs751291945, rs138571550, rs139341447, rs148444170, rs148593471 RCV003938642
RCV003963242
RCV003948577
RCV003980762
RCV003965043
RCV003903776
RCV003898540
RCV003937730
RCV003948954
RCV003939403
RCV003942444
RCV003962785
RCV003930650
RCV003950741
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Coenzyme Q10 Deficiency Associate 24140869, 35643375
Kidney Diseases Associate 30232548
Proteinuria Associate 30232548, 35643375
Signs and Symptoms Associate 30594156