Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	51004
Gene name Gene Name - the full gene name approved by the HGNC.	Coenzyme Q6, monooxygenase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	COQ6
Synonyms (NCBI Gene) Gene synonyms aliases	CGI-10, CGI10, COQ10D6
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q24.3
Summary Summary of gene provided in NCBI Entrez Gene.	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,

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

Show/Hide all(2)

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

Show/Hide all(29)

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

MIM	HGNC	e!Ensembl
614647	20233	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

Interactions

View interactions

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

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Nephrotic Syndrome	familial steroid-resistant nephrotic syndrome with sensorineural deafness	N/A	N/A	GenCC

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Coenzyme Q10 Deficiency	Associate	24140869, 35643375
Kidney Diseases	Associate	30232548
Proteinuria	Associate	30232548, 35643375
Signs and Symptoms	Associate	30594156

COQ6 (coenzyme Q6, monooxygenase)