COQ9 (coenzyme Q9)

Gene

• Entrez ID: 57017
• Gene name: Coenzyme Q9
• Gene symbol: COQ9
• Synonyms: C16orf49, COQ10D5
• Chromosome: 16
• Chromosome location: 16q21
• 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11547480	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs76508383	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs143587648	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs267606751	C>T	Pathogenic	Stop gained, coding sequence variant
rs547254482	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs757251412	C>G,T	Likely-pathogenic, likely-benign	Missense variant, coding sequence variant
rs786205897	G>-	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029756	hsa-miR-26b-5p	Microarray	19088304

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25339443, 27499296, 32296183
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005743	Component	Mitochondrial inner membrane	IBA	21873635
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IEA
GO:0006744	Process	Ubiquinone biosynthetic process	IBA	21873635
GO:0006744	Process	Ubiquinone biosynthetic process	IEA
GO:0006744	Process	Ubiquinone biosynthetic process	ISS
GO:0008289	Function	Lipid binding	IBA	21873635
GO:0008289	Function	Lipid binding	IDA	25339443
GO:0042803	Function	Protein homodimerization activity	IDA	25339443

Other IDs

• MIM: 612837
• HGNC: 25302
• e!Ensembl: ENSG00000088682

Protein

• UniProt ID: O75208
• Protein name: Ubiquinone biosynthesis protein COQ9, mitochondrial
• Protein function: Lipid-binding protein involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Binds a phospholipid of at least 10 carbons in each acyl group. May be required to present its bound-lipid to COQ7.
• PDB: 4RHP, 6AWL, 6DEW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08511	COQ9	210 → 286	COQ9	Domain

• Sequence:

  MAAAAVSGALGRAGWRLLQLRCLPVARCRQALVPRAFHASAVGLRSSDEQKQQPPNSFSQ
  QHSETQGAEKPDPESSHSPPRYTDQGGEEEEDYESEEQLQHRILTAALEFVPAHGWTAEA
  IAEGAQSLGLSSAAASMFGKDGSELILHFVTQCNTRLTRVLEEEQKLVQLGQAEKRKTDQ
  FLRDAVETRLRMLIPYIEHWPRALSILMLPHNIPSSLSLLTSMVDDMWHYAGDQSTDFNW
  YTRRAMLAAIYNTTELVMMQDSSPDFEDTWRFLENRVNDAMNMGHTAKQVKSTGEALVQG
  LMGAAVTLKNLTGLNQRR

• Sequence length: 318

Associated diseases

Disease name	Disease term	References
	Cerebellar atrophy
	Cerebral atrophy
	COENZYME Q10 DEFICIENCY	30712880, 27604308
	COENZYME Q10 DEFICIENCY, PRIMARY, 1	19375058
	COENZYME Q10 DEFICIENCY, PRIMARY, 5	23255162, 25802402, 28736527, 27604308, 26081641, 11562630, 20495179, 19375058, 20689595, 25655951
	Global developmental delay
	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
	Encephalopathies
	Neonatal hyperglycemia
	Left Ventricular Hypertrophy