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Aliases for COQ2 Gene

Aliases for COQ2 Gene

  • Coenzyme Q2, Polyprenyltransferase 2 3
  • Coenzyme Q2 4-Hydroxybenzoate Polyprenyltransferase 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
  • Coenzyme Q2 Homolog, Prenyltransferase (Yeast) 2
  • Para-Hydroxybenzoate--Polyprenyltransferase 4
  • 4-Hydroxybenzoate Polyprenyltransferase 2
  • Coenzyme Q2 Homolog, Prenyltransferase 3
  • COQ2 Homolog 4
  • EC 2.5.1.39 4
  • EC 2.5.1 63
  • 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. Among its related pathways are Metabolism and Ubiquinol biosynthesis. 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

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

Enhancers for COQ2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around COQ2 on UCSC Golden Path with GeneCards custom track

Promoters for COQ2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COQ2 on UCSC Golden Path with GeneCards custom track

Genomic Location for COQ2 Gene

Chromosome:
4
Start:
83,138,601 bp from pter
End:
83,285,089 bp from pter
Size:
146,489 bases
Orientation:
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:
    Q96H96-COQ2_HUMAN
    Recommended name:
    4-hydroxybenzoate polyprenyltransferase, mitochondrial
    Protein Accession:
    Q96H96
    Secondary Accessions:
    • O95331
    • Q1JQ78
    • Q684R2

    Protein attributes for COQ2 Gene

    Size:
    371 amino acids
    Molecular mass:
    40489 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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 Lys 265
  • Modification sites at PhosphoSitePlus

Other Protein References for COQ2 Gene

Domains & Families for COQ2 Gene

Suggested Antigen Peptide Sequences for COQ2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96H96

UniProtKB/Swiss-Prot:

COQ2_HUMAN :
  • Belongs to the UbiA prenyltransferase family.
Family:
  • 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 TAS --
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 tm1b(EUCOMM)Hmgu

Animal Model Products

miRNA for COQ2 Gene

miRTarBase miRNAs that target COQ2

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for COQ2 Gene COMPARTMENTS Subcellular localization image for COQ2 gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
cytosol 2
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for COQ2 Gene

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

None

No data available for SIGNOR curated interactions for COQ2 Gene

Drugs & Compounds for COQ2 Gene

(7) Drugs for COQ2 Gene - From: PharmGKB, HMDB, 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
4-Hydroxybenzoic acid Experimental Pharma 0
Diphosphate Experimental Pharma 0
Geranyl-PP Experimental Pharma Feedback inhibition, Inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Hexaprenyl-4-hydroxybenzoic acid
  • 3-(3,7,11,15,19,23-Hexamethyl-2,6,10,14,18,22-tetracosahexaenyl)-4-hydroxy-benzoate
  • 3-(3,7,11,15,19,23-Hexamethyl-2,6,10,14,18,22-tetracosahexaenyl)-4-hydroxy-benzoic acid
  • 3-Hexaprenyl-4-hydroxybenzoate
  • 3-Hexaprenyl-4-hydroxybenzoic acid
65848-03-5
4-Hydroxy-3-polyprenylbenzoate
All-trans-hexaprenyl diphosphate
  • (E)-hexaprenyl diphosphate
Prenyl benzoate
  • 2-Buten-1-ol, 3-methyl-, 1-benzoate
  • 2-Buten-1-ol, 3-methyl-, benzoate
  • 3-Methyl-2-butenyl benzoate
  • 3-Methylbut-2-enyl benzoate
  • 3-Nonaprenyl-4-hydroxybenzoate
5205-11-8
Solanesyl-PP
  • All-trans-nonaprenyl diphosphate
  • Solanesyl diphosphate
  • Solanesyl pyrophosphate
146340-00-3
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:

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

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b
SP1: -
SP2:
SP3:

Relevant External Links for COQ2 Gene

GeneLoc Exon Structure for
COQ2
ECgene alternative splicing isoforms for
COQ2

Expression for COQ2 Gene

mRNA expression in normal human tissues for COQ2 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines 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

Q96H96-COQ2_HUMAN
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 expression patterns with COQ2: view

Primer Products

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 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
cow
(Bos Taurus)
Mammalia COQ2 35
  • 85.71 (n)
  • 84.1 (a)
COQ2 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COQ2 35
  • 86.78 (n)
  • 84.51 (a)
COQ2 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Coq2 35
  • 80.44 (n)
  • 83.24 (a)
Coq2 16
Coq2 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia COQ2 35
  • 99.29 (n)
  • 98.81 (a)
COQ2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Coq2 35
  • 80.64 (n)
  • 81.02 (a)
oppossum
(Monodelphis domestica)
Mammalia COQ2 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COQ2 36
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves COQ2 35
  • 68.53 (n)
  • 72.27 (a)
COQ2 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COQ2 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486844 35
  • 70.61 (n)
  • 75.66 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16565 35
zebrafish
(Danio rerio)
Actinopterygii coq2 35
  • 68.89 (n)
  • 77.33 (a)
Dr.9905 35
coq2 36
  • 64 (a)
OneToOne
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)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea coq-2 35
  • 55.33 (n)
  • 54.08 (a)
coq-2 36
  • 42 (a)
OneToOne
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)
OneToOne
COQ2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons PPT1 35
  • 55.81 (n)
  • 58.47 (a)
rice
(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)
OneToOne
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

ENSEMBL:
Gene Tree for COQ2 (if available)
TreeFam:
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
VAR_025701 Coenzyme Q10 deficiency, primary, 1 (COQ10D1)
VAR_068161 Coenzyme Q10 deficiency, primary, 1 (COQ10D1)
VAR_068162 Coenzyme Q10 deficiency, primary, 1 (COQ10D1)
VAR_068163 Coenzyme Q10 deficiency, primary, 1 (COQ10D1)
rs6818847 - 83,284,719(+) TGCCA(A/C)AGCCC nc-transcript-variant, upstream-variant-2KB, reference, missense

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

Variation tolerance for COQ2 Gene

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

Relevant External Links for COQ2 Gene

HapMap Linkage Disequilibrium report
COQ2
Human Gene Mutation Database (HGMD)
COQ2

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

Disorders for COQ2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
coenzyme q10 deficiency, primary, 1
  • coq10d1
multiple system atrophy
  • striatonigral degeneration
leigh syndrome with nephrotic syndrome
  • infantile subacute necrotizing encephalopathy with nephrotic syndrome
coq2-related coenzyme q10 deficiency
  • coenzyme q10 deficiency, primary, 1
coenzyme q10 deficiency disease
  • coenzyme q10 deficiency, primary
- elite association - COSMIC cancer census association via MalaCards
Search COQ2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COQ2_HUMAN
  • 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.

Relevant External Links for COQ2

Genetic Association Database (GAD)
COQ2
Human Genome Epidemiology (HuGE) Navigator
COQ2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COQ2
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 67
  2. 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
  3. 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
  4. Human CoQ10 deficiencies. (PMID: 19096106) Quinzii C.M. … Hirano M. (Biofactors 2008) 3 23
  5. Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency. (PMID: 17510911) Montero R. … Artuch R. (Cerebellum 2007) 3 23

Products for COQ2 Gene

Sources for COQ2 Gene

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