COQ4 - coenzyme Q4 Gene

Homo sapiens

Also known as CGI-92; COQ10D7

Gene ID: 51117 | Gene type: protein coding

About COQ4

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:128,322,839-128,334,072 (from NCBI)

This gene has 5 transcripts (splice variants), 207 orthologues and is associated with 3 phenotypes. Ubiquitous expression in duodenum (RPKM 20.6), thyroid (RPKM 18.4) and 25 other tissues.

Summary

This gene encodes a component of the coenzyme Q biosynthesis pathway. Coenzyme Q, an essential component of the electron transport chain, shuttles electrons between complexes I or II to complex III of the mitochondrial transport chain. This protein appears to play a structural role in stabilizing a complex that contains most of the coenzyme Q biosynthesis Enzymes. Mutations in this gene are associated with mitochondrial disorders linked to coenzyme Q deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

COQ4 Products(2)

mRNA	Protein	Name
NM_001305942.2	NP_001292871.2	ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform 2 precursor
NM_016035.5	NP_057119.3	ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25152161	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in ubiquinone biosynthetic process	IMP IMP: Inferred from mutant phenotype	30659264	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	27499296	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	25152161	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

COQ4 Protein Structure

Coq4

0
100
200
265 a.a.

Protein Preferred Names

Protein Names

ubiquinone biosynthesis protein COQ4 homolog, mitochondrial

coenzyme Q biosynthesis protein 4 homolog

COQ4 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	COQ4	Q9Y3A0	COQ3	Homo sapiens	Q9NZJ6	Anti Tag CoIP	27499296
Intra	COQ4	Q9Y3A0	COQ3	Homo sapiens	Q9NZJ6	Pull Down	27499296
Intra	COQ4	Q9Y3A0	COQ7	Homo sapiens	Q99807	Anti Tag CoIP	27499296
Intra	COQ4	Q9Y3A0	COQ7	Homo sapiens	Q99807	Pull Down	27499296
Intra	COQ4	Q9Y3A0	COQ5	Homo sapiens	Q5HYK3	Anti Tag CoIP	27499296
Intra	COQ4	Q9Y3A0	COQ5	Homo sapiens	Q5HYK3	Pull Down	27499296
Intra	COQ4	Q9Y3A0	MAGEA2	Homo sapiens	P43356	Y2H Prey Pooling	32296183
Intra	COQ4	Q9Y3A0	MAGEA2	Homo sapiens	P43356	Y2H Array	32296183
Intra	COQ4	Q9Y3A0	COQ6	Homo sapiens	Q9Y2Z9	Pull Down	27499296
Intra	COQ4	Q9Y3A0	COQ6	Homo sapiens	Q9Y2Z9	Anti Tag CoIP	27499296

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

Spastic Ataxia

Spax	Ataxia, Spastic

Hypotonia

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

Combined Oxidative Phosphorylation Deficiency 13

COXPD13	Combined Oxidative Phosphorylation Defect Type 13
Combined Oxidative Phosphorylation Deficiency, Type 13

Coenzyme Q10 Deficiency, Primary, 3

COQ10D3	Primary Coenzyme Q10 Deficiency 3
Coenzyme Q10 Deficiency, Primary, Type 3

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 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, 5

Encephalopathy-Hypertrophic Cardiomyopathy-Renal Tubular Disease Syndrome	COQ10D5
Primary Coenzyme Q10 Deficiency 5	Coenzyme Q10 Deficiency, Primary, Type 5

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

Mitochondrial Dna Depletion Syndrome 5

Succinate-Coa Ligase Deficiency	Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
MTDPS5	Booth-Haworth-Dilling Syndrome
Mtdna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Or Without Methylmalonic Aciduria, Autosomal Recessive, Sucla2-Related
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic	Mitochondrial Dna Depletion Syndrome-5
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria, Autosomal Recessive	Mitochondrial Encephalomyopathy Aminoacidopathy
Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Mild Methylmalonic Aciduria
Mitochondrial Dna Depletion, Encephalomyopathic Form, With Methylmalonic Aciduria	Succinate-Coenzyme A Ligase Deficiency
Mitochondrial Encephalomyopathy-Aminoacidopathy Syndrome	Encephalomyopathic Mitochondrial Dna Depletion Syndrome With Or Without Methylmalonic Aciduria
Mitochondrial Dna Depletion Syndrome 5 Encephalomyopathic With Or Without Methylmalonic Aciduria	Mitochondrial Dna Depletion Syndrome Encephalomyopathic Form With Or Without Methylmalonic Aciduria Autosomal Recessive Sucla2-Related
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive	Mitochondrial Dna Depletion Syndrome, Type 5

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

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

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Developmental And Epileptic Encephalopathy 7

Epileptic Encephalopathy, Early Infantile, 7	DEE7
Eiee7	Kcnq2-Related Epileptic Encephalopathy
Kcnq2-Related Neonatal Epileptic Encephalopathy	Developmental And Epileptic Encephalopathy, 7
Early Infantile Epileptic Encephalopathy 7	Kcnq2-Nee
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile, Type 7
Early Infantile Epileptic Encephalopathy With Suppression Bursts

Combined Oxidative Phosphorylation Deficiency 1

Hepatoencephalopathy Due To Combined Oxidative Phosphorylation Defect Type 1	COXPD1
Early Fatal Progressive Hepatoencephalopathy	Hepatoencephalopathy Due To Coxpd1
Combined Oxidative Phosphorylation Deficiency, Type 1	Hepatoencephalopathy, Early Fatal Progressive
Hepatoencephalopathy Early Fatal Progressive

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

Mitochondrial Myopathy

Mitochondrial Myopathies	Mitochondrial Cytopathy
Myopathies In Mitochondrial Disorders

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

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03040	COQ4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	COQ4	VGNC	VGNC:103253
Mus musculus	COQ4	MGD	MGI:1098826
Rattus norvegicus	COQ4	RGD	RGD:1304638
Felis catus	COQ4	VGNC	VGNC:61096
Canis familiaris	COQ4	VGNC	VGNC:39519
Bos taurus	COQ4	VGNC	VGNC:59211

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