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Aliases for COQ2 Gene

Aliases for COQ2 Gene

  • Coenzyme Q2, Polyprenyltransferase 2 3 5
  • 4-Hydroxybenzoate Decaprenyltransferase 3 4
  • 4-HB Polyprenyltransferase 3 4
  • PHB:Polyprenyltransferase 3 4
  • PHB:PPT 3 4
  • CL640 3 4
  • Para-Hydroxybenzoate-Polyprenyltransferase, Mitochondrial 3
  • 4-Hydroxybenzoate Polyprenyltransferase, Mitochondrial 3
  • Coenzyme Q2 4-Hydroxybenzoate Polyprenyltransferase 3
  • Coenzyme Q2 Homolog, Prenyltransferase (Yeast) 2
  • Para-Hydroxybenzoate--Polyprenyltransferase 4
  • 4-Hydroxybenzoate Polyprenyltransferase 2
  • Coenzyme Q2 Homolog, Prenyltransferase 3
  • COQ2 Homolog 4
  • EC 4
  • COQ10D1 3
  • HCOQ2 4
  • MSA1 3

External Ids for COQ2 Gene

Previous GeneCards Identifiers for COQ2 Gene

  • GC04M084543
  • GC04M084404
  • GC04M084184
  • GC04M079927
  • GC04M083261

Summaries for COQ2 Gene

Entrez Gene Summary for COQ2 Gene

  • 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]

GeneCards Summary for COQ2 Gene

COQ2 (Coenzyme Q2, Polyprenyltransferase) is a Protein Coding gene. Diseases associated with COQ2 include Coenzyme Q10 Deficiency, Primary, 1 and Multiple System Atrophy 1. Among its related pathways are Metabolism and Ubiquinol biosynthesis. Gene Ontology (GO) annotations related to this gene include prenyltransferase activity and 4-hydroxybenzoate nonaprenyltransferase activity.

UniProtKB/Swiss-Prot for COQ2 Gene

  • Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl group. Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis, which is the condensation of the polyisoprenoid side chain with PHB, generating the first membrane-bound Q intermediate.

Gene Wiki entry for COQ2 Gene

Additional gene information for COQ2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COQ2 Gene

Genomics for COQ2 Gene

GeneHancer (GH) Regulatory Elements for COQ2 Gene

Promoters and enhancers for COQ2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J083283 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 655 +0.1 135 2.8 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF207 ZNF143 COQ2 HNRNPD HELQ THAP9-AS1 HNRNPDL LOC101928963 PLAC8 GC04P083274
GH04J083320 Enhancer 0.9 FANTOM5 Ensembl ENCODE 5.9 -35.6 -35612 1.4 HLF MAX HPSE THAP9 PLAC8 COQ2 HELQ LIN54 LOC105377313
GH04J083215 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 3.3 +66.9 66920 4.7 PKNOX1 SMAD1 RB1 STAT5A BMI1 YBX1 BATF KLF5 IRF4 RAD21 PLAC8 LOC391674 THAP9 HPSE COQ2 LIN54 HELQ GC04M083225
GH04J083107 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 2.1 +173.2 173191 9.3 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A ZNF2 ZBTB7B IRF4 YY1 PLAC8 HELQ THAP9 LIN54 COQ2 HPSE GC04P083063
GH04J083315 Enhancer 0.8 FANTOM5 Ensembl ENCODE 5.8 -31.7 -31741 1.8 PRDM10 HPSE THAP9 PLAC8 COQ2 HELQ LIN54 LOC105377313
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COQ2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COQ2 gene promoter:
  • N-Myc
  • Pax-6
  • Tal-1beta
  • E47
  • Msx-1
  • FOXO1
  • FOXO1a
  • FOXO4
  • Nkx3-1
  • Nkx3-1 v1

Genomic Locations for COQ2 Gene

Genomic Locations for COQ2 Gene
146,489 bases
Minus strand
23,379 bases
Minus strand

Genomic View for COQ2 Gene

Genes around COQ2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COQ2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COQ2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COQ2 Gene

Proteins for COQ2 Gene

  • Protein details for COQ2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    4-hydroxybenzoate polyprenyltransferase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • O95331
    • Q1JQ78
    • Q684R2

    Protein attributes for COQ2 Gene

    371 amino acids
    Molecular mass:
    40489 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    • Sequence=AAC72955.1; Type=Frameshift; Positions=172; Evidence={ECO:0000305}; Sequence=AAH20728.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAF18241.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for COQ2 Gene


neXtProt entry for COQ2 Gene

Post-translational modifications for COQ2 Gene

  • Ubiquitination at posLast=265265
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for COQ2
  • Boster Bio Antibodies for COQ2
  • Santa Cruz Biotechnology (SCBT) Antibodies for COQ2

No data available for DME Specific Peptides for COQ2 Gene

Domains & Families for COQ2 Gene

Gene Families for COQ2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for COQ2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the UbiA prenyltransferase family.
  • Belongs to the UbiA prenyltransferase family.
genes like me logo Genes that share domains with COQ2: view

Function for COQ2 Gene

Molecular function for COQ2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl group. Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis, which is the condensation of the polyisoprenoid side chain with PHB, generating the first membrane-bound Q intermediate.
UniProtKB/Swiss-Prot CatalyticActivity:
A polyprenyl diphosphate + 4-hydroxybenzoate = diphosphate + a 4-hydroxy-3-polyprenylbenzoate.

Enzyme Numbers (IUBMB) for COQ2 Gene

Phenotypes From GWAS Catalog for COQ2 Gene

Gene Ontology (GO) - Molecular Function for COQ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002083 4-hydroxybenzoate decaprenyltransferase activity TAS --
GO:0004659 prenyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016765 transferase activity, transferring alkyl or aryl (other than methyl) groups IEA --
GO:0047293 4-hydroxybenzoate nonaprenyltransferase activity IEA --
genes like me logo Genes that share ontologies with COQ2: view
genes like me logo Genes that share phenotypes with COQ2: view

Human Phenotype Ontology for COQ2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COQ2 Gene

MGI Knock Outs for COQ2:
  • Coq2 Coq2<tm1b(EUCOMM)Hmgu>

Animal Model Products

miRNA for COQ2 Gene

miRTarBase miRNAs that target COQ2

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for COQ2 Gene

Localization for COQ2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COQ2 Gene

Mitochondrion inner membrane; Multi-pass membrane protein; Matrix side.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COQ2 gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COQ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031305 integral component of mitochondrial inner membrane IDA 27493029
genes like me logo Genes that share ontologies with COQ2: view

Pathways & Interactions for COQ2 Gene

genes like me logo Genes that share pathways with COQ2: view

UniProtKB/Swiss-Prot Q96H96-COQ2_HUMAN

  • Pathway: Cofactor biosynthesis; ubiquinone biosynthesis.

Gene Ontology (GO) - Biological Process for COQ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006071 glycerol metabolic process IGI 15153069
GO:0006744 ubiquinone biosynthetic process TAS --
GO:0008299 isoprenoid biosynthetic process IEA --
genes like me logo Genes that share ontologies with COQ2: view

No data available for SIGNOR curated interactions for COQ2 Gene

Drugs & Compounds for COQ2 Gene

(4) Drugs for COQ2 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
atorvastatin Approved Pharma Competitive, Inhibitor 0
Rosuvastatin Approved Pharma Competitive, Inhibitor 0
hmg coa reductase inhibitors Pharma 0

(10) Additional Compounds for COQ2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Hexaprenyl-4-hydroxybenzoic acid
  • (all-e)-3-(3,7,11,15,19,23-Hexamethyl-2,6,10,14,18,22-tetracosahexaenyl)-4-hydroxybenzoic acid
  • all-trans-3-(3,7,11,15,19,23-Hexamethyl-2,6,10,14,18,22-tetracosahexaenyl)-4-hydroxybenzoic acid
  • (all-e)-3-(3,7,11,15,19,23-Hexamethyl-2,6,10,14,18,22-tetracosahexaenyl)-4-hydroxybenzoate
  • 3-Hexaprenyl-4-hydroxybenzoate
  • all-trans-3-(3,7,11,15,19,23-Hexamethyl-2,6,10,14,18,22-tetracosahexaenyl)-4-hydroxybenzoate
4-Hydroxybenzoic acid
  • 4-Carboxyphenol
  • P-Salicylic acid
  • 4-Hydroxybenzoate
All-trans-hexaprenyl diphosphate
  • (2E,6E,10E,14E,18E)-3,7,11,15,19,23-Hexamethyltetracosa-2,6,10,14,18,22-hexaen-1-yl trihydrogen diphosphate
  • (2E,6E,10E,14E,18E)-3,7,11,15,19,23-Hexamethyltetracosa-2,6,10,14,18,22-hexaen-1-yl trihydrogen diphosphoric acid
  • all-trans-Hexaprenyl diphosphoric acid
  • (e)-Hexaprenyl diphosphate
  • Geranyl pyrophosphate
  • Geranyl pyrophosphoric acid
  • (2E)-3,7-Dimethylocta-2,6-dien-1-yl trihydrogen diphosphate
  • Geranyl diphosphate
  • Geranyl-diphosphate
genes like me logo Genes that share compounds with COQ2: view

Transcripts for COQ2 Gene

Unigene Clusters for COQ2 Gene

Coenzyme Q2 homolog, prenyltransferase (yeast):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COQ2 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b
SP1: -

Relevant External Links for COQ2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for COQ2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COQ2 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COQ2 Gene

NURSA nuclear receptor signaling pathways regulating expression of COQ2 Gene:


SOURCE GeneReport for Unigene cluster for COQ2 Gene:


mRNA Expression by UniProt/SwissProt for COQ2 Gene:

Tissue specificity: Widely expressed. Present in all of the tissues tested. Expressed at higher level in skeletal muscle, adrenal glands and the heart.

Evidence on tissue expression from TISSUES for COQ2 Gene

  • Muscle(4.5)
  • Liver(4.3)
  • Lung(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COQ2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • pituitary gland
  • breast
  • heart
  • heart valve
  • lung
  • kidney
  • liver
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with COQ2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Protein tissue co-expression partners for COQ2 Gene

Orthologs for COQ2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COQ2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia COQ2 34 33
  • 99.29 (n)
(Canis familiaris)
Mammalia COQ2 34 33
  • 86.78 (n)
(Bos Taurus)
Mammalia COQ2 34 33
  • 85.71 (n)
(Monodelphis domestica)
Mammalia COQ2 34
  • 82 (a)
(Rattus norvegicus)
Mammalia Coq2 33
  • 80.64 (n)
(Mus musculus)
Mammalia Coq2 16 34 33
  • 80.44 (n)
(Ornithorhynchus anatinus)
Mammalia COQ2 34
  • 62 (a)
(Gallus gallus)
Aves COQ2 34 33
  • 68.53 (n)
(Anolis carolinensis)
Reptilia COQ2 34
  • 65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486844 33
  • 70.61 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16565 33
(Danio rerio)
Actinopterygii coq2 34 33
  • 68.89 (n)
Dr.9905 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3181 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004513 33
  • 60 (n)
fruit fly
(Drosophila melanogaster)
Insecta Coq2 34 33
  • 58.6 (n)
(Caenorhabditis elegans)
Secernentea coq-2 34 33
  • 55.33 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F10307g 33
  • 51.56 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COQ2 36 34 33
  • 50.31 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL231W 33
  • 48.84 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons PPT1 33
  • 55.81 (n)
(Oryza sativa)
Liliopsida Os08g0322600 33
  • 55.56 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ppt1 33
  • 51.38 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01553 33
  • 48.66 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
Cin.11750 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11750 33
Species where no ortholog for COQ2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COQ2 Gene

Gene Tree for COQ2 (if available)
Gene Tree for COQ2 (if available)
Evolutionary constrained regions (ECRs) for COQ2: view image

Paralogs for COQ2 Gene

No data available for Paralogs for COQ2 Gene

Variants for COQ2 Gene

Sequence variations from dbSNP and Humsavar for COQ2 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1057519348 pathogenic, Coenzyme Q10 deficiency, primary 83,278,973(-) A/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1129617 conflicting-interpretations-of-pathogenicity, likely-benign, not specified, Coenzyme Q10 deficiency, primary 83,267,697(-) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs121918230 pathogenic, Coenzyme Q10 deficiency, primary 1, Coenzyme Q10 deficiency, primary 83,269,882(-) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs121918231 pathogenic, Coenzyme Q10 deficiency, primary 1, Coenzyme Q10 deficiency, primary 83,273,598(-) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs121918232 pathogenic, Coenzyme Q10 deficiency, primary 1, Coenzyme Q10 deficiency, primary 83,273,505(-) T/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for COQ2 Gene

Variant ID Type Subtype PubMed ID
esv3893971 CNV gain 25118596
nsv526041 CNV loss 19592680
nsv829991 CNV loss 17160897
nsv829992 CNV loss 17160897

Variation tolerance for COQ2 Gene

Gene Damage Index Score: 2.13; 38.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COQ2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COQ2 Gene

Disorders for COQ2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for COQ2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
coenzyme q10 deficiency, primary, 1
  • coq10d1
multiple system atrophy 1
  • multiple system atrophy 1, susceptibility to
coenzyme q10 deficiency disease
  • coenzyme q10 deficiency, primary
leigh syndrome with nephrotic syndrome
  • infantile subacute necrotizing encephalopathy with nephrotic syndrome
multiple system atrophy, cerebellar type
  • msa, cerebellar type
- elite association - COSMIC cancer census association via MalaCards
Search COQ2 in MalaCards View complete list of genes associated with diseases


  • Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426]: An autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. {ECO:0000269 PubMed:16400613, ECO:0000269 PubMed:17374725, ECO:0000269 PubMed:17855635, ECO:0000269 PubMed:23343605, ECO:0000269 PubMed:25564041, ECO:0000269 PubMed:27493029, ECO:0000269 PubMed:28044327}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Multiple system atrophy 1 (MSA1) [MIM:146500]: A progressive neurodegenerative disorder clinically characterized by parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Pathologically, it is characterized by degeneration of striatonigral and olivopontocerebellar structures, and glial cytoplasmic inclusions that consist of abnormally phosphorylated alpha-synuclein or tau. {ECO:0000269 PubMed:23758206}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for COQ2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with COQ2: view

No data available for Genatlas for COQ2 Gene

Publications for COQ2 Gene

  1. Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ. (PMID: 15153069) Forsgren M … Climent I (The Biochemical journal 2004) 2 3 4 22 58
  2. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. (PMID: 17332895) Mollet J … Rötig A (The Journal of clinical investigation 2007) 2 3 22 58
  3. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. (PMID: 16400613) Quinzii C … Hirano M (American journal of human genetics 2006) 3 4 22 58
  4. The COQ2 genotype predicts the severity of coenzyme Q10 deficiency. (PMID: 27493029) Desbats MA … Trevisson E (Human molecular genetics 2016) 3 4 58
  5. Mutations in COQ2 in familial and sporadic multiple-system atrophy. (PMID: 23758206) Multiple-System Atrophy Research Collaboration (The New England journal of medicine 2013) 3 4 58

Products for COQ2 Gene

Sources for COQ2 Gene

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