COQ9 - coenzyme Q9 Gene

Also Known as COQ10D5; C16orf49

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57017

About COQ9

Cytogenetic location: 16q21 Genomic coordinates (GRCh38): 16:57,447,479-57,461,270 (from NCBI)

This gene has 16 transcripts (splice variants), 212 orthologues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 47.9), kidney (RPKM 39.3) and 25 other tissues.

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]

COQ9 Products (1)

mRNA	Protein	Name
NM_020312.4	NP_064708.1	ubiquinone biosynthesis protein COQ9, mitochondrial precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables lipid binding	IDA IDA: Inferred from direct assay	25339443	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25339443	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	25339443	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	27499296	GOA
part of ubiquinone biosynthesis complex	IPI IPI: Inferred from physical interaction	27499296	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COQ9 Protein Structure

COQ9

0
100
200
300
318 a.a.

Protein Preferred Names	Protein Names
ubiquinone biosynthesis protein COQ9, mitochondrial	coenzyme Q9 homolog

COQ9 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	COQ9	O75208	GALNT2	Homo sapiens	Q10471	Validated Y2H	32296183
Intra	COQ9	O75208	CCL4L1	Homo sapiens	Q8NHW4	Validated Y2H	32296183
Intra	COQ9	O75208	TEX264	Homo sapiens	Q9Y6I9	Validated Y2H	32296183
Intra	COQ9	O75208	ORMDL1	Homo sapiens	Q9P0S3	Validated Y2H	32296183
Intra	COQ9	O75208	ADIPOQ	Homo sapiens	Q15848	Validated Y2H	32296183
Intra	COQ9	O75208	COQ7	Homo sapiens	Q99807	Anti Tag CoIP	27499296
Intra	COQ9	O75208	COQ7	Homo sapiens	Q99807	Pull Down	27499296
Intra	COQ9	O75208	TMEM86A	Homo sapiens	Q8N2M4	Validated Y2H	32296183
Intra	COQ9	O75208	CTXN3	Homo sapiens	Q4LDR2	Validated Y2H	32296183
Intra	COQ9	O75208	TSPAN33	Homo sapiens	Q86UF1	Validated Y2H	32296183
Intra	COQ9	O75208	SCARF1	Homo sapiens	Q14162	Validated Y2H	32296183
Intra	COQ9	O75208	ALDH18A1	Homo sapiens	P54886	Validated Y2H	32296183
Intra	COQ9	O75208	VSTM1	Homo sapiens	Q6UX27-3	Validated Y2H	32296183
Intra	COQ9	O75208	COQ5	Homo sapiens	Q5HYK3	Pull Down	27499296
Intra	COQ9	O75208	COQ5	Homo sapiens	Q5HYK3	Anti Tag CoIP	27499296
Intra	COQ9	O75208	STX3	Homo sapiens	Q13277	Validated Y2H	32296183
Intra	COQ9	O75208	PPGB	Homo sapiens	Q59EV6	Validated Y2H	32296183
Intra	COQ9	O75208	TMEM14C	Homo sapiens	Q9P0S9	Validated Y2H	32296183
Intra	COQ9	O75208	EHHADH	Homo sapiens	Q08426	Validated Y2H	32296183
Intra	COQ9	O75208	CYBC1	Homo sapiens	Q9BQA9	Validated Y2H	32296183
Intra	COQ9	O75208	HMOX1	Homo sapiens	P09601	Validated Y2H	32296183
Intra	COQ9	O75208	ACSF2	Homo sapiens	Q96CM8	Validated Y2H	32296183
Intra	COQ9	O75208	ACSF2	Homo sapiens	Q96CM8	Anti Tag CoIP	27499296
Intra	COQ9	O75208	BMP10	Homo sapiens	O95393	Validated Y2H	32296183
Intra	COQ9	O75208	PLSCR2	Homo sapiens	Q9NRY7	Validated Y2H	32296183
Intra	COQ9	O75208	WFDC2	Homo sapiens	Q14508	Validated Y2H	32296183
Intra	COQ9	O75208	COQ8A	Homo sapiens	Q8NI60	Anti Tag CoIP	27499296
Intra	COQ9	O75208	COQ8A	Homo sapiens	Q8NI60	Validated Y2H	32296183
Intra	COQ9	O75208	TRAF3IP3	Homo sapiens	Q9Y228	Validated Y2H	32296183
Intra	COQ9	O75208	KIR2DL3	Homo sapiens	P43628	Validated Y2H	32296183
Intra	COQ9	O75208	TMEM79	Homo sapiens	Q9BSE2	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Coenzyme Q10 Deficiency, Primary, 5	Encephalopathy-Hypertrophic Cardiomyopathy-Renal Tubular Disease Syndrome COQ10D5 Primary Coenzyme Q10 Deficiency 5 Coenzyme Q10 Deficiency, Primary, Type 5
Coenzyme Q10 Deficiency, Primary, 4	Scar9 Spinocerebellar Ataxia, Autosomal Recessive 9 Autosomal Recessive Ataxia Due To Ubiquinone Deficiency COQ10D4 Arca2 Autosomal Recessive Cerebellar Ataxia Type 2 Primary Coenzyme Q10 Deficiency 4 Autosomal Recessive Ataxia Due To Coenzyme Q10 Deficiency Autosomal Recessive Spinocerebellar Ataxia Type 9 Autosomal Recessive Spinocerebellar Ataxia 9 Spinocerebellar Ataxia Autosomal Recessive 9 Coenzyme Q10 Deficiency, Primary, Type 4 Ataxia, Spinocerebellar, Autosomal Recessive, Type 9
Coenzyme Q10 Deficiency, Primary, 7	Neonatal Encephalomyopathy-Cardiomyopathy-Respiratory Distress Syndrome COQ10D7 Primary Coenzyme Q10 Deficiency 7 Coq4-Related Neonatal Encephalomyopathy Coenzyme Q10 Deficiency, Primary, Type 7
Coenzyme Q10 Deficiency, Primary, 3	COQ10D3 Primary Coenzyme Q10 Deficiency 3 Coenzyme Q10 Deficiency, Primary, Type 3
Coenzyme Q10 Deficiency, Primary, 6	Familial Steroid-Resistant Nephrotic Syndrome With Sensorineural Deafness COQ10D6 Primary Coenzyme Q10 Deficiency 6 Familial Steroid-Resistant Nephrotic Syndrome With Sensorineural Hearing Loss Srns With Sensorineural Deafness Steroid-Resistant Nephrotic Syndrome With Sensorineural Deafness Coenzyme Q10 Deficiency, Primary, Type 6
Coenzyme Q10 Deficiency Disease	Coenzyme Q10 Deficiency Coq10 Deficiency Primary Coenzyme Q10 Deficiency Coenzyme Q Deficiency Coq Deficiency Primary Coq10 Deficiency Ubiquinone Deficiency Coenzyme Q10 Deficiency, Primary Coq10 Deficiency, Primary
Coenzyme Q10 Deficiency, Primary, 2	Deafness-Encephaloneuropathy-Obesity-Valvulopathy Syndrome COQ10D2 Primary Coenzyme Q10 Deficiency 2 Hearing Loss-Encephaloneuropathy-Obesity-Valvulopathy Syndrome Coenzyme Q10 Deficiency, Primary, Type 2
Combined Oxidative Phosphorylation Deficiency 33	COXPD33
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	MRXSBL Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance Mental Retardation, X-Linked 60, Formerly Mrx60, Formerly Intellectual Developmental Disorder, X-Linked Syndromic, Billuart Type Mrx60 Mental Retardation, X-Linked, With Cerebellar Hypoplasia, Distinctive Facial Appearance
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Encephalopathy, Ethylmalonic	Ethylmalonic Encephalopathy EE Epema Syndrome Encephalopathy, Petechiae, And Ethylmalonic Aciduria Ethe1 Deficiency Eme Syndrome Of Encephalopathy, Petechiae, And Ethylmalonic Aciduria
Multiple Acyl-Coa Dehydrogenase Deficiency	MADD Ethylmalonic-Adipicaciduria Ema Glutaric Acidemia Iia Glutaric Acidemia Iib Ga Ii Glutaric Acidemia Iic Glutaric Acidemia Type 2 Glutaric Acidemia Ii Glutaric Aciduria Ii Electron Transfer Flavoprotein Deficiency Glutaric Aciduria Type 2 Mad Deficiency Glutaric Acidemia Type Ii Glutaric Aciduria 2 Etfa Deficiency Etfb Deficiency Etfdh Deficiency Multiple Acyl Coenzyme A Dehydrogenase Deficiency Ga2 Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency Electron Transfer Flavoprotein Dehydrogenase Deficiency Ga 2 Glutaric Acidemia 2 Glutaric Acidemia, Type 2 Glutaric Aciduria, Type 2 Mad Multiple Fad Dehydrogenase Deficiency Ethylmalonic Adipic Aciduria Glutaricaciduria Ii Glutaric Aciduria 2a GA2A Gaiia Glutaricaciduria Iia Glutaric Aciduria 2b GA2B Gaiib Glutaricaciduria Iib Glutaric Aciduria 2c GA2C Gaiic Glutaricaciduria Iic Glutaricaciduria, Type Iia Glutaric Acidemia Type 2a Glutaric Acidemia Type 2c Glutaric Aciduria Iia Glutaric Aciduria Iib Glutaric Aciduria Iic
Kearns-Sayre Syndrome	Ophthalmoplegia Mitochondrial Cytopathy KSS Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy Oculocraniosomatic Syndrome Chronic Progressive External Ophthalmoplegia With Myopathy Cpeo With Myopathy Total Ophthalmoplegia Ophthalmoplegia-Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged-Red Fibers Cpeo With Ragged-Red Fibers Oculomotor Paralysis Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia Cpeo With Ragged Red Fibers Ophthalmoplegia Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged Red Fibers Kearns-Sayre Mitochondrial Cytopathy Mitochondrial Myopathies
Mitochondrial Encephalomyopathy	Mitochondrial Encephalomyopathies Encephalomyopathy, Mitochondrial
Osteogenesis Imperfecta, Type I	Osteogenesis Imperfecta Type I OI1 Oi, Type I Osteogenesis Imperfecta Tarda Osteogenesis Imperfecta With Blue Sclerae Osteogenesis Imperfecta Type 1 Adair-Dighton Syndrome Mild Osteogenesis Imperfecta Non-Deforming Osteogenesis Imperfecta Oi Type 1 Van Der Hoeve Syndrome Classic Non-Deforming Oi With Blue Sclerae Osteogenesis Imperfecta 1 Oi-I Osteopenic Non-Fracture Syndrome Osteogenesis Imperfecta, Mild Osteogenesis Imperfecta Lobstein'S Disease
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Melas Syndrome MELAS Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-101415	Coenzyme Q9	Inhibitor	99.77%	Unkown
HY-RS03046	COQ9 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	COQ9	VGNC	VGNC:61100
Mus musculus	COQ9	MGD	MGI:1915164
Rattus norvegicus	COQ9	RGD	RGD:1586040
Canis familiaris	COQ9	VGNC	VGNC:39525
Bos taurus	COQ9	VGNC	VGNC:27618
Others	COQ9	NCBI