COQ6 (coenzyme Q6, monooxygenase)

Gene

• Entrez ID: 51004
• Gene name: Coenzyme Q6, monooxygenase
• Gene symbol: COQ6
• Synonyms (NCBI Gene): CGI-10, CGI10, COQ10D6
• 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 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT023583	hsa-miR-1-3p	Proteomics	18668040
MIRT038047	hsa-miR-423-5p	CLASH	23622248

Gene ontology (GO)

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
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	27499296
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0006744	Process	Ubiquinone biosynthetic process	IBA
GO:0006744	Process	Ubiquinone biosynthetic process	IDA	38425362
GO:0006744	Process	Ubiquinone biosynthetic process	IEA
GO:0006744	Process	Ubiquinone biosynthetic process	NAS	28927698
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IBA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0016709	Function	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	IEA
GO:0016712	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IEA
GO:0031314	Component	Extrinsic component of mitochondrial inner membrane	IEA
GO:0031314	Component	Extrinsic component of mitochondrial inner membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA
GO:0071949	Function	FAD binding	IEA
GO:0106364	Function	4-hydroxy-3-all-trans-polyprenylbenzoate oxygenase activity	IDA	38425362
GO:0106364	Function	4-hydroxy-3-all-trans-polyprenylbenzoate oxygenase activity	IEA
GO:0110142	Component	Ubiquinone biosynthesis complex	IPI	27499296
GO:0120538	Function	2-methoxy-6-polyprenolphenol 4-hydroxylase activity	IDA	38425362

Other IDs

• MIM: 614647
• HGNC: 20233
• e!Ensembl: ENSG00000119723

Protein

• UniProt ID: 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

Pathways

KEGG:

Ubiquinone and other terpenoid-quinone biosynthesis
Metabolic pathways
Biosynthesis of cofactors

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Familial cancer of breast	Likely pathogenic; Pathogenic	rs376848848	RCV005929964	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COENZYME Q10 DEFICIENCY, PRIMARY, 6	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COQ6-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY COENZYME Q10 DEFICIENCY 8	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
COENZYME Q10 DEFICIENCY	Coenzyme Q10 Deficiency	BEFREE	24140869, 28117207, 30682496		★☆☆☆☆ Found in Text Mining only
Coenzyme Q10 Deficiency	Coenzyme q10 deficiency	Pubtator	24140869, 35643375	Associate	★☆☆☆☆ Found in Text Mining only
COENZYME Q10 DEFICIENCY, PRIMARY, 6	Coenzyme Q10 Deficiency	ORPHANET_DG	21540551		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COENZYME Q10 DEFICIENCY, PRIMARY, 6	Coenzyme Q10 Deficiency	GENOMICS_ENGLAND_DG	21540551, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COENZYME Q10 DEFICIENCY, PRIMARY, 6	Coenzyme Q10 Deficiency	UNIPROT_DG	21540551, 28044327		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COENZYME Q10 DEFICIENCY, PRIMARY, 6	Coenzyme Q10 Deficiency	CLINVAR_DG	21540551, 24140869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COENZYME Q10 DEFICIENCY, PRIMARY, 6	Coenzyme Q10 Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	28117207, 30425193		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	30232548	Associate	★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	21540551		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	21540551, 30682496		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 3	Neurofibromatosis	ORPHANET_DG	24763291		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis, Type 3, mixed central and peripheral	Neurofibromatosis	ORPHANET_DG	24763291		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	30232548, 35643375	Associate	★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	30232548		★☆☆☆☆ Found in Text Mining only
Schwannomatosis	Schwannomatosis	BEFREE	24763291		★☆☆☆☆ Found in Text Mining only
Schwannomatosis	Schwannomatosis	ORPHANET_DG	24763291		★☆☆☆☆ Found in Text Mining only
Schwannomatosis	Schwannomatosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	21540551, 28117207, 30682496		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	GENOMICS_ENGLAND_DG	21540551, 27604308		★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	24270420, 30584653, 30737270		★☆☆☆☆ Found in Text Mining only