COQ9 Gene

Name	coenzyme Q9
Description	This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n COQ9 encodes a mitochondrial protein that plays an essential, non‐catalytic role in the biosynthesis of coenzyme Q (CoQ), a key lipophilic electron carrier required for mitochondrial respiration. Genetic studies in humans and mice have demonstrated that loss‐of‐function mutations in COQ9 lead to a severe reduction of CoQ levels, accumulation of late biosynthetic intermediates, and consequent multisystem defects including encephalopathy, cardiomyopathy, and developmental delay."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Biochemical and structural analyses have revealed that COQ9 is a member of the Coq protein complex and interacts tightly with other biosynthetic components—most notably COQ7—likely via a lipid‐binding pocket that mediates substrate presentation in the CoQ biosynthetic pathway."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Mouse models with distinct COQ9 truncations further show that the integrity and stability of the CoQ multiprotein complex depend on COQ9, and that even a truncated form can dysregulate the levels of other COQ proteins, leading to variable impairment of mitochondrial oxidative phosphorylation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Moreover, under conditions of metabolic stress such as glutamine deprivation, COQ9 expression is dynamically regulated (down‐regulated via LONP1-mediated mechanisms), linking its function to adaptive control of mitochondrial respiration."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " Collectively, these studies underscore that COQ9 is pivotal not only for the structural stabilization of the CoQ biosynthetic complex but also for ensuring efficient CoQ production, thereby safeguarding mitochondrial bioenergetics and cellular redox balance.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Andrew J Duncan, Maria Bitner-Glindzicz, Brigitte Meunier, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2009.03.018"}], "href": "https://doi.org/10.1016/j.ajhg.2009.03.018"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19375058"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19375058"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Katharina Danhauser, Diran Herebian, Tobias B Haack, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ejhg.2015.133"}], "href": "https://doi.org/10.1038/ejhg.2015.133"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26081641"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26081641"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Danielle C Lohman, Farhad Forouhar, Emily T Beebe, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1413128111"}], "href": "https://doi.org/10.1073/pnas.1413128111"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25339443"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25339443"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Laura García-Corzo, Marta Luna-Sánchez, Carolina Doerrier, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/dds530"}], "href": "https://doi.org/10.1093/hmg/dds530"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23255162"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23255162"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Marta Luna-Sánchez, Elena Díaz-Casado, Emanuele Barca, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO Mol Med (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.15252/emmm.201404632"}], "href": "https://doi.org/10.15252/emmm.201404632"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25802402"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25802402"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Mingyue Li, Rick Francis Thorne, Ronghua Shi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DDIT3 Directs a Dual Mechanism to Balance Glycolysis and Oxidative Phosphorylation during Glutamine Deprivation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Adv Sci (Weinh) (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/advs.202003732"}], "href": "https://doi.org/10.1002/advs.202003732"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34105294"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34105294"}]}]}]}
Synonyms	C16ORF49, COQ10D5
Proteins	COQ9_HUMAN
NCBI Gene ID	57017
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

COQ9 has 5,808 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 117 datasets.

Click the + buttons to view associations for COQ9 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

COQ9 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 COQ9 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 COQ9 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 COQ9 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 COQ9 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 COQ9 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 COQ9 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 COQ9 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 COQ9 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of COQ9 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of COQ9 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 COQ9 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with COQ9 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 COQ9 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of COQ9 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 COQ9 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 COQ9 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with COQ9 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing COQ9 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of COQ9 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing COQ9 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing COQ9 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing COQ9 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing COQ9 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with COQ9 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 COQ9 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 COQ9 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with COQ9 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with COQ9 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with COQ9 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of COQ9 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 COQ9 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving COQ9 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with COQ9 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 COQ9 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 COQ9 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with COQ9 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 COQ9 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 COQ9 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of COQ9 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 COQ9 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.