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Aliases for COQ2 Gene

Aliases for COQ2 Gene

  • Coenzyme Q2 4-Hydroxybenzoate Polyprenyltransferase 2 3
  • PHB:Polyprenyltransferase 3 4
  • COQ10D1 3 6
  • CL640 3 4
  • MSA1 3 6
  • Para-Hydroxybenzoate-Polyprenyltransferase, Mitochondrial 3
  • 4-Hydroxybenzoate Polyprenyltransferase, Mitochondrial 3
  • Coenzyme Q2 Homolog, Prenyltransferase (Yeast) 2
  • Para-Hydroxybenzoate--Polyprenyltransferase 4
  • 4-Hydroxybenzoate Polyprenyltransferase 2
  • 4-Hydroxybenzoate Decaprenyltransferase 4
  • Coenzyme Q2 Homolog, Prenyltransferase 3
  • 4-HB Polyprenyltransferase 4
  • COQ2 Homolog 4
  • EC 4
  • EC 2.5.1 63
  • PHB:PPT 4
  • HCOQ2 4

External Ids for COQ2 Gene

Previous GeneCards Identifiers for COQ2 Gene

  • GC04M084543
  • GC04M084404
  • GC04M084184
  • GC04M079927

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 4-Hydroxybenzoate Polyprenyltransferase) is a Protein Coding gene. Diseases associated with COQ2 include multiple system atrophy and coenzyme q10 deficiency, primary, 1. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include 4-hydroxybenzoate decaprenyltransferase 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

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

Genomics for COQ2 Gene

Regulatory Elements for COQ2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for COQ2 Gene

83,261,487 bp from pter
83,284,914 bp from pter
23,428 bases
Minus strand

Genomic View for COQ2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for COQ2 Gene at MOPED

Selected DME Specific Peptides for COQ2 Gene

Post-translational modifications for COQ2 Gene

  • Ubiquitination at Lys265
  • Modification sites at PhosphoSitePlus

Other Protein References for COQ2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for COQ2 Gene

Protein Domains for COQ2 Gene

Suggested Antigen Peptide Sequences for COQ2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Q96H96
  • Belongs to the UbiA prenyltransferase family.
genes like me logo Genes that share domains with COQ2: view

No data available for Gene Families for COQ2 Gene

Function for COQ2 Gene

Molecular function for COQ2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
A polyprenyl diphosphate + 4-hydroxybenzoate = diphosphate + a 4-hydroxy-3-polyprenylbenzoate.
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.

Enzyme Numbers (IUBMB) 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 IEA --
GO:0004659 prenyltransferase activity --
GO:0047293 4-hydroxybenzoate nonaprenyltransferase activity IEA --
genes like me logo Genes that share ontologies with COQ2: view

Animal Model Products

miRNA for COQ2 Gene

miRTarBase miRNAs that target COQ2

No data available for Phenotypes , Animal Models , Transcription Factor Targeting 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

Jensen Localization Image for COQ2 Gene COMPARTMENTS Subcellular localization image for COQ2 gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for COQ2 Gene

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

Pathways 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:0008152 metabolic process --
GO:0008219 cell death --
GO:0008299 isoprenoid biosynthetic process IEA --
genes like me logo Genes that share ontologies with COQ2: view

Compounds for COQ2 Gene

(2) HMDB Compounds for COQ2 Gene

Compound Synonyms Cas Number PubMed IDs
3-hexaprenyl-4-hydroxybenzoic acid
  • 3-Hexaprenyl-4-hydroxybenzoate
4-Hydroxybenzoic acid
  • 4-Carboxyphenol

(3) Novoseek inferred chemical compound relationships for COQ2 Gene

Compound -log(P) Hits PubMed IDs
coq1 93.1 2
coq10 89.4 2
ubiquinone 80.5 3

(3) PharmGKB related drug/compound annotations for COQ2 Gene

Drug/compound Annotation
atorvastatin CA
hmg coa reductase inhibitors CA
rosuvastatin CA
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COQ2

Primer Products

Flow Cytometry 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 for COQ2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for COQ2 Gene

SOURCE GeneReport for Unigene cluster for COQ2 Gene Hs.144304

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.
genes like me logo Genes that share expressions with COQ2: view

In Situ Assay Products

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 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
(Bos Taurus)
Mammalia COQ2 35
  • 85.71 (n)
  • 84.1 (a)
COQ2 36
  • 84 (a)
(Canis familiaris)
Mammalia COQ2 35
  • 86.78 (n)
  • 84.51 (a)
COQ2 36
  • 85 (a)
(Mus musculus)
Mammalia Coq2 35
  • 80.44 (n)
  • 83.24 (a)
Coq2 16
Coq2 36
  • 79 (a)
(Pan troglodytes)
Mammalia COQ2 35
  • 99.29 (n)
  • 98.81 (a)
COQ2 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Coq2 35
  • 80.64 (n)
  • 81.02 (a)
(Monodelphis domestica)
Mammalia COQ2 36
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia COQ2 36
  • 62 (a)
(Gallus gallus)
Aves COQ2 35
  • 68.53 (n)
  • 72.27 (a)
COQ2 36
  • 68 (a)
(Anolis carolinensis)
Reptilia COQ2 36
  • 65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486844 35
  • 70.61 (n)
  • 75.66 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16565 35
(Danio rerio)
Actinopterygii coq2 35
  • 68.89 (n)
  • 77.33 (a)
Dr.9905 35
coq2 36
  • 64 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3181 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004513 35
  • 60 (n)
  • 63.86 (a)
fruit fly
(Drosophila melanogaster)
Insecta Coq2 35
  • 58.6 (n)
  • 66.55 (a)
Coq2 36
  • 51 (a)
(Caenorhabditis elegans)
Secernentea coq-2 35
  • 55.33 (n)
  • 54.08 (a)
coq-2 36
  • 42 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL231W 35
  • 48.84 (n)
  • 50.18 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F10307g 35
  • 51.56 (n)
  • 48.92 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COQ2 35
  • 50.31 (n)
  • 47.6 (a)
COQ2 36
  • 35 (a)
COQ2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons PPT1 35
  • 55.81 (n)
  • 58.47 (a)
(Oryza sativa)
Liliopsida Os08g0322600 35
  • 55.56 (n)
  • 58.25 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11750 35
bread mold
(Neurospora crassa)
Ascomycetes NCU01553 35
  • 48.66 (n)
  • 43.3 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ppt1 35
  • 51.38 (n)
  • 49.46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
Species with no ortholog for COQ2:
  • 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)

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 Sequence Context AA Info Type MAF
rs1129617 Likely benign 83,267,697(-) CTCAG(C/T)GGCTT reference, synonymous-codon, nc-transcript-variant
rs4235058 -- 83,283,855(+) ATTAA(A/G)ATAGG intron-variant, upstream-variant-2KB
rs4515150 -- 83,263,616(+) CTTGT(C/T)TGTTC downstream-variant-500B, intron-variant
rs4579106 -- 83,282,563(+) CTGGT(A/T)TCTTC intron-variant, utr-variant-5-prime
rs4693075 -- 83,271,015(+) AATCA(C/G)GCTCA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv829991 CNV Loss 17160897
nsv526041 CNV Loss 19592680
nsv829992 CNV Loss 17160897

Relevant External Links for COQ2 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

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

Disorders for COQ2 Gene

(2) OMIM Diseases for COQ2 Gene (609825)


  • 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:17855635}. 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.

(1) University of Copenhagen DISEASES for COQ2 Gene

(1) Novoseek inferred disease relationships for COQ2 Gene

Disease -log(P) Hits PubMed IDs
coenzyme q10 deficiency 91.6 1

Relevant External Links for COQ2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
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 CoQ2. (PMID: 15153069) Forsgren M. … Climent I. (Biochem. J. 2004) 2 3 4 23
  2. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. (PMID: 16400613) Quinzii C. … Hirano M. (Am. J. Hum. Genet. 2006) 3 4 23
  3. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. (PMID: 17332895) Mollet J. … Rotig A. (J. Clin. Invest. 2007) 2 3 23
  4. Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency. (PMID: 17510911) Montero R. … Artuch R. (Cerebellum 2007) 3 23
  5. Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency. (PMID: 18230681) Quinzii C.M. … Hirano M. (FASEB J. 2008) 3 23

Products for COQ2 Gene

Sources for COQ2 Gene

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