COQ9 coenzyme Q9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COQ9provided by HGNC
Official Full Name: coenzyme Q9provided by HGNC
Primary source: HGNC:HGNC:25302
See related: Ensembl:ENSG00000088682 MIM:612837; AllianceGenome:HGNC:25302
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: COQ10D5; C16orf49
Summary: 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]
Expression: Ubiquitous expression in heart (RPKM 47.9), kidney (RPKM 39.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q21

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (57447479..57461270)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (63242655..63256447)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (57481391..57495182)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structure and functionality of a multimeric human COQ7:COQ9 complex.
Title: Structure and functionality of a multimeric human COQ7:COQ9 complex.
DDIT3 Directs a Dual Mechanism to Balance Glycolysis and Oxidative Phosphorylation during Glutamine Deprivation.
Title: DDIT3 Directs a Dual Mechanism to Balance Glycolysis and Oxidative Phosphorylation during Glutamine Deprivation.
family with CoQ10 deficiency caused by mutations in the COQ9 gene
Title: A family segregating lethal neonatal coenzyme Q(10) deficiency caused by mutations in COQ9.
Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis.
Title: Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
There is a homozygous stop mutation affecting a highly conserved residue of COQ9, leading to the truncation of 75 amino acids.
Title: A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MedGen: C3553374 OMIM: 614654 GeneReviews: Primary Coenzyme Q10 Deficiency Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69662 (e-PCR)
- UniSTS:52747

SHGC-61053 (e-PCR)
- UniSTS:36666

Bdac5g11 (e-PCR)
- UniSTS:88532

RH78523 (e-PCR)
- UniSTS:28118

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables lipid binding	IBA Inferred from Biological aspect of Ancestor more info
enables lipid binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial electron transport, NADH to ubiquinone	IEA Inferred from Electronic Annotation more info
involved_in ubiquinone biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ubiquinone biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in ubiquinone biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in ubiquinone biosynthetic process	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed
part_of ubiquinone biosynthesis complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: ubiquinone biosynthesis protein COQ9, mitochondrial

Names: coenzyme Q9 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.