COQ2 - coenzyme Q2, polyprenyltransferase Gene

Homo sapiens

Also known as MSA1; CL640; COQ10D1; PHB:PPT

Gene ID: 27235 | Gene type: protein coding

About COQ2

Cytogenetic location: 4q21.23 Genomic coordinates (GRCh38): 4:83,263,824-83,285,134 (from NCBI)

This gene has 6 transcripts (splice variants), 218 orthologues, 1 paralogue and is associated with 6 phenotypes. Ubiquitous expression in adrenal (RPKM 2.9), colon (RPKM 2.1) and 25 other tissues.

Summary

This gene encodes an Enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This Enzyme, which is part of the coenzyme Q10 pathway, catalyzes the prenylation of parahydroxybenzoate with an all-trans polyprenyl group. Mutations in this gene cause coenzyme Q10 deficiency, a mitochondrial encephalomyopathy, and also COQ2 nephropathy, an inherited form of mitochondriopathy with primary renal involvement. [provided by RefSeq, Oct 2009]

COQ2 Products(2)

mRNA	Protein	Name
NM_001358921.2	NP_001345850.1	4-hydroxybenzoate polyprenyltransferase, mitochondrial isoform 2
NM_015697.9	NP_056512.5	4-hydroxybenzoate polyprenyltransferase, mitochondrial isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 4-hydroxybenzoate polyprenyltransferase activity	IMP IMP: Inferred from mutant phenotype	16400613	GOA
enables prenyltransferase activity	IGI IGI: Inferred from genetic interaction	15153069	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in glycerol metabolic process	IGI IGI: Inferred from genetic interaction	15153069	GOA
involved in ubiquinone biosynthetic process	IDA IDA: Inferred from direct assay	15153069	GOA
acts upstream of or within ubiquinone biosynthetic process	IGI IGI: Inferred from genetic interaction	15153069	GOA
involved in ubiquinone biosynthetic process	IMP IMP: Inferred from mutant phenotype	16400613	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	27493029	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

COQ2 Protein Structure

UbiA

0
100
200
300
421 a.a.

Protein Preferred Names

Protein Names

4-hydroxybenzoate polyprenyltransferase, mitochondrial

4-HB polyprenyltransferase

Related Diseases

Diseases

Alias

Multiple System Atrophy 1

Multiple System Atrophy	Shy-Drager Syndrome
Msa	MSA1
Multiple System Atrophy 1, Susceptibility To	Sporadic Olivopontocerebellar Atrophy
Multisystem Atrophy	Msa1, Susceptibility To
Multiple System Atrophy, Susceptibility To	Opca
Progressive Autonomic Failure With Multiple System Atrophy	Sds

Coenzyme Q10 Deficiency, Primary, 1

COQ10D1	Ubiquinone Deficiency 1
Coenzyme Q Deficiency 1	Coq Deficiency 1
Coq10 Deficiency, Primary, 1	Primary Coenzyme Q10 Deficiency 1
Primary Coq10 Deficiency 1	Coenzyme Q10 Deficiency, Primary, Type 1

Multiple System Atrophy With Orthostatic Hypotension

Leigh Syndrome With Nephrotic Syndrome

Infantile Subacute Necrotizing Encephalopathy With Nephrotic Syndrome

Leigh Disease With Nephrotic Syndrome

Multiple System Atrophy, Cerebellar Type

Msa, Cerebellar Type	Msa-C
Sporadic Opca Type 1	Sporadic Olivopontocerebellar Atrophy Type 1
Multiple System Atrophy-C	Msa-C - [Multiple System Atrophy - Cerebellar Type]

Multiple System Atrophy, Parkinsonian Type

Msa, Parkinsonian Type

Msa-P

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

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome	Ns - [Nephrotic Syndrome]
Nephrosis Syndrome	Nephrosis Nos
Glomerular Lesion Nephrosis

Mitochondrial Encephalomyopathy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

Striatonigral Degeneration

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

Schindler Disease, Type I

Schindler Disease Type 1	Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Schindler Disease Type 3	Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Naga Deficiency Type 3	Neuroaxonal Dystrophy, Schindler Type
Naga Deficiency Type 1	Alpha-N-Acetylgalactosaminidase Deficiency, Type I
Naga Deficiency, Type I	Schindler Disease, Type Iii
N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type Iii	Alpha-N-Acetylgalactosaminidase Deficiency, Type 1
Naga Deficiency, Type 1	Schindler Disease Type I
Schindler Disease	SCHIND
Schindler Disease, Type 3	Schindler Disease, Type 1

Olivopontocerebellar Atrophy

Thomas Syndrome	Olivopontocerebellar Atrophies
Dejerine-Thomas Syndrome	Thomas' Syndrome
Wadia-Swami Syndrome	Opca
Potter Sequence-Cleft Lip/Palate-Cardiopathy Syndrome	Spinocerebellar Ataxia Type 2

Coenzyme Q10 Deficiency, Primary, 5

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

Frasier Syndrome

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

Parkinsonism

Parkinsonism-Plus	Idiopathic Parkinsonism
Primary Parkinsonism	Paralysis Agitans Syndrome
Parkinsonian Syndrome	Trembling Paralysis
Paralysis Agitans	Shaking Palsy
Shaking Paralysis

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

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

Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Carnitine Palmitoyltransferase Ii Deficiency	Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset	Carnitine Palmitoyltransferase Ii Deficiency With Hypoketotic Hypoglycemia
Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular	Cpt Ii Deficiency, Hepatic
Cpt2 Deficiency, Infantile	Cpt Ii Deficiency, Infantile
Cpt Ii Deficiency	Carnitine Palmitoyltransferase 2 Deficiency
Cpt2	Carnitine Palmitoyltransferase Deficiency Type 2
Carnitine Palmitoyl Transferase 2 Deficiency	Cpt-Ii
Infantile Carnitine Palmitoyltransferase Ii Deficiency	Late-Onset Carnitine Palmitoyltransferase Ii Deficiency
Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency	Carnitine Palmitoyltransferase Ii Deficiency
Cpt2 Deficiency	Cptii
Cpt2, Hepatocardiomuscular Form	Cpt2, Severe Infantile Form
Cptii, Hepatocardiomuscular Form	Cptii, Severe Infantile Form
Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form	Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form
Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form	Carnitine Palmitoyltransferase 2 Deficiency, Infantile
CPT2DI	Cpt Deficiency, Hepatic, Type Ii
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

Familial Nephrotic Syndrome

Congenital Nephrotic Syndrome	Nephrosis, Congenital
Finnish Congenital Nephrotic Syndrome

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

Pierson Syndrome

Microcoria-Congenital Nephrotic Syndrome	Microcoria-Congenital Nephrosis Syndrome
PIERS	Microcoria - Congenital Nephrosis
Microcoria - Congenital Nephrotic Syndrome	PIERSS

Progressive Myoclonus Epilepsy 4

Action Myoclonus-Renal Failure Syndrome	Amrf
Epm4	Myoclonus-Nephropathy Syndrome

Babesiosis

Babesiasis	Infection By Babesia
Piroplasmosis	Human Babesiosis
Babesia Parasite Infection	Piroplasma Infection

Schnyder Corneal Dystrophy

Schnyder Crystalline Corneal Dystrophy	SCCD
Corneal Dystrophy, Crystalline, Of Schnyder	Corneal Dystrophy, Schnyder Type
Corneal Dystrophy Crystalline Of Schnyder	Crystalline Stromal Dystrophy
Hereditary Crystalline Stromal Dystrophy Of Schnyder	Scd
Corneal Dystrophy, Schnyder	Schnyder Crystalline Dystrophy Sine Crystals
Dystrophy, Corneal, Crystalline, Schnyder

Denys-Drash Syndrome

Drash Syndrome	DDS
Nephropathy, Wilms Tumor, And Genital Anomalies	Wilms Tumor And Pseudohermaphroditism
Wilms Tumor And Pseudo- Or True Hermaphroditism	Nephropathy Associated With Male Pseudohermaphroditism And Wilms' Tumor
Pseudohermaphroditism, Nephron Disorder And Wilms' Tumor	Wilms Tumor-Dsd Syndrome
Wilms Tumor-Disorder Of Sex Development Syndrome

Galloway-Mowat Syndrome

Galloway Mowat Syndrome	Galloway Syndrome
Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type	Microcephaly Nephrosis Syndrome
Microcephaly, Hiatal Hernia, And Nephrotic Syndrome	Nephrosis Neuronal Dysmigration Syndrome
Microcephaly-Hiatus Hernia-Nephrotic Syndrome	Nephrosis-Neuronal Dysmigration Syndrome

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

Cerebellar Disease

Cerebellar Diseases	Cerebellar Dysfunction
Cerebellar Abnormality	Cerebellar Disorders

Hereditary Ataxia

Sca	Spinocerebellar Ataxia
Ataxias Hereditary	Ataxias, Hereditary

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

Cardiofaciocutaneous Syndrome 1

Cardiofaciocutaneous Syndrome	Cfc Syndrome
Cardio-Facio-Cutaneous Syndrome	CFC1
Cfcs	Cardio-Facial-Cutaneous Syndrome
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure	Cardiofaciocutaneous Syndrome, Type 1

Alport Syndrome

Hereditary Nephritis	Alport Syndrome, X-Linked
Hemorrhagic Hereditary Nephritis	Congenital Hereditary Hematuria
Hemorrhagic Familial Nephritis	Familial Nephritis
Thin Basement Membrane Disease	Thin Basement Membrane Nephropathy
Hematuria-Nephropathy-Deafness Syndrome	Hematuric Hereditary Nephritis
Hereditary Familial Congenital Hemorrhagic Nephritis	Hereditary Hematuria Syndrome
Hereditary Interstitial Pyelonephritis	Alport Deafness-Nephropathy
Alport Hearing Loss-Nephropathy	Alports Syndrome
Nephritis, Hereditary

Dementia, Lewy Body

Lewy Body Dementia	Lewy Body Disease
Diffuse Lewy Body Disease	Dementia With Lewy Bodies
DLB	Autosomal Dominant Diffuse Lewy Body Disease
Cortical Lewy Body Disease	Dementia, Lewy Body, Susceptibility To
Lewy Body Dementia, Susceptibility To	Senile Dementia Of The Lewy Body Type
Dementia Of The Lewy Body Type	Lbd
Diffuse Lewy Body Disease With Gaze Palsy	Dysphasic Dementia Hereditary
Lewy Body Type Senile Dementia	Lewy Body Variant Of Alzheimer Disease
Lewy Bodies	Lewy Body
Dlbd - [Diffuse Lewy Body Disease]	Clbd - [Cortical Lewy Body Disease]

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

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

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy	Leber Hereditary Optic Neuropathy
LHON	Leber'S Hereditary Optic Neuropathy
Leber Optic Atrophy, Susceptibility To	Leber'S Optic Atrophy
LOAM	Loas
Leber'S Disease	Leber'S Optic Neuropathy
Optic Atrophy, Hereditary, Leber	Lhon, Modifier Of
Optic Atrophy, Leber Type	Hereditary Optic Neuroretinopathy
Leber Hereditary Optic Atrophy	Loa
Optic Atrophy Leber Type	Leber Hereditary Optic Neuropathy, Modifier
Leber Hereditary Optic Neuropathy Susceptibility	Modifier Of Leber Hereditary Optic Neuropathy
Lebers Hereditary Optic Neuropathy	Leber Congenital Amaurosis

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

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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-RS03038	COQ2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	COQ2	RGD	RGD:1306722
Canis familiaris	COQ2	VGNC	VGNC:39517
Mus musculus	COQ2	MGD	MGI:1919133
Bos taurus	COQ2	VGNC	VGNC:27611
Macaca mulatta	COQ2	VGNC	VGNC:71348
Felis catus	COQ2	VGNC	VGNC:61094