COQ9 - coenzyme Q9 Gene

Homo sapiens

Also known as COQ10D5; C16orf49

Gene ID: 57017 | Gene type: protein coding

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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-101415	Coenzyme Q9	Inhibitor	≥98.0%	Unkown
HY-RS03046	COQ9 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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