COQ6 Gene

Name	coenzyme Q6 monooxygenase
Description	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, and one of the most potent lipophilic antioxidants implicated in the protection of cell damage by reactive oxygen species. Knockdown of this gene in mouse and zebrafish results in decreased growth due to increased apoptosis. Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2012]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n COQ6 is an essential monooxygenase that catalyzes a critical step in the biosynthesis of coenzyme Q₁₀ (CoQ₁₀), a lipid‐soluble electron carrier and antioxidant indispensable for mitochondrial energy production. Several studies have now shown that deleterious mutations in COQ6 impair CoQ₁₀ biosynthesis, leading to mitochondrial dysfunction that manifests clinically as steroid‐resistant nephrotic syndrome (SRNS) frequently associated with sensorineural hearing loss. For example, one study identified six different COQ6 mutations in familial cases of early‐onset SRNS with hearing impairment, and demonstrated in yeast and zebrafish models that loss of functional COQ6 promotes podocyte apoptosis that can be partially reversed by CoQ₁₀ supplementation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In another investigation, COQ6 was found to interact with other components of the CoQ₁₀ biosynthetic complex—such as ADCK4—which helps to coordinate CoQ₁₀ production; disruption of this interaction further supports a common pathogenic mechanism underlying CoQ₁₀‐related nephropathies."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Additional reports in children with focal segmental glomerulosclerosis and sensorineural hearing loss have identified biallelic COQ6 mutations and confirmed abnormal mitochondrial proliferation in podocytes"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ", while other case studies have demonstrated that COQ6 defects lead to a primary CoQ₁₀ deficiency which is amenable to oral CoQ₁₀ supplementation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " In a further line of investigation, a novel missense COQ6 variant was detected in a familial schwannomatosis pedigree, suggesting that defective CoQ₁₀ biosynthesis may also contribute to the chronic oxidative stress observed in Schwann cells."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Together, these data emphasize that COQ6 is indispensable for proper CoQ₁₀ biosynthesis, and that its disruption has diverse pathological consequences—notably in renal and auditory tissues—with the promising therapeutic implication that early CoQ₁₀ supplementation may mitigate disease progression."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}, {"type": "fg_f", "ref": "7"}, {"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Saskia F Heeringa, Gil Chernin, Moumita Chaki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI45693"}], "href": "https://doi.org/10.1172/JCI45693"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21540551"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21540551"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Shazia Ashraf, Heon Yung Gee, Stephanie Woerner, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI69000"}], "href": "https://doi.org/10.1172/JCI69000"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24270420"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24270420"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Eujin Park, Yo Han Ahn, Hee Gyung Kang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Kidney Dis (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1053/j.ajkd.2016.10.040"}], "href": "https://doi.org/10.1053/j.ajkd.2016.10.040"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28117207"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28117207"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Zeynep Yuruk Yildirim, Guven Toksoy, Oya Uyguner, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Med Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ejmg.2019.01.011"}], "href": "https://doi.org/10.1016/j.ejmg.2019.01.011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30682496"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30682496"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Cheng-Cheng Song, Quan Hong, Xiao-Dong Geng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "New Mutation of Coenzyme Q"}, {"type": "a", "children": [{"type": "t", "text": "sub"}], "href": "sub"}, {"type": "t", "text": "10"}, {"type": "a", "children": [{"type": "t", "text": "/sub"}], "href": "/sub"}, {"type": "t", "text": " Monooxygenase 6 Causing Podocyte Injury in a Focal Segmental Glomerulosclerosis Patient."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Chin Med J (Engl) (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4103/0366-6999.245158"}], "href": "https://doi.org/10.4103/0366-6999.245158"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30425193"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30425193"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Małgorzata Stańczyk, Irena Bałasz-Chmielewska, Beata Lipska-Ziętkiewicz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CoQ10-related sustained remission of proteinuria in a child with COQ6 glomerulopathy-a case report."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pediatr Nephrol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00467-018-4083-3"}], "href": "https://doi.org/10.1007/s00467-018-4083-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30232548"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30232548"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Keqiang Zhang, Jia-Wei Lin, Jinhui Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Med (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/gim.2014.39"}], "href": "https://doi.org/10.1038/gim.2014.39"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24763291"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24763291"}]}]}]}
Synonyms	COQ10D6, CGI10, CGI-10
Proteins	COQ6_HUMAN
NCBI Gene ID	51004
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

COQ6 has 5,768 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 120 datasets.

Click the + buttons to view associations for COQ6 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

COQ6 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of COQ6 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of COQ6 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of COQ6 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of COQ6 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of COQ6 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of COQ6 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of COQ6 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of COQ6 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of COQ6 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of COQ6 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of COQ6 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with COQ6 protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of COQ6 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of COQ6 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of COQ6 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with COQ6 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with COQ6 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of COQ6 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of COQ6 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing COQ6 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing COQ6 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with COQ6 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with COQ6 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of COQ6 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with COQ6 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with COQ6 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with COQ6 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with COQ6 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of COQ6 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by COQ6 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving COQ6 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with COQ6 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with COQ6 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with COQ6 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with COQ6 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at COQ6 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of COQ6 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of COQ6 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing COQ6 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with COQ6 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.