U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Protein

    • Showing Current items.

    COQ2 coenzyme Q2, polyprenyltransferase [ Homo sapiens (human) ]

    Gene ID: 27235, updated on 2-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    COQ2provided by HGNC
    Official Full Name
    coenzyme Q2, polyprenyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:25223
    See related
    Ensembl:ENSG00000173085 MIM:609825; AllianceGenome:HGNC:25223
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MSA1; CL640; COQ10D1; PHB:PPT
    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]
    Expression
    Ubiquitous expression in adrenal (RPKM 2.9), colon (RPKM 2.1) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See COQ2 in Genome Data Viewer
    Location:
    4q21.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (83263824..83285134, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (86593916..86615230, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (84184977..84206287, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 10366 Neighboring gene uncharacterized LOC124900167 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:84091705-84092904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21680 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:84102258-84102833 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:84115858-84116088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15540 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21683 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21685 Neighboring gene aminomethyltransferase pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21686 Neighboring gene Sharpr-MPRA regulatory region 13773 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:84210168-84210668 Neighboring gene uncharacterized LOC105377313 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:84237230-84238429 Neighboring gene heparanase Neighboring gene ReSE screen-validated silencer GRCh37_chr4:84242552-84242745 Neighboring gene Sharpr-MPRA regulatory region 10996 Neighboring gene C18orf21 pseudogene 1

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. COQ2 variants in Parkinson's disease and multiple system atrophy. Mikasa M, et al. J Neural Transm (Vienna), 2018 Jun. PMID 29644397
    2. Analysis of COQ2 gene in multiple system atrophy. Ogaki K, et al. Mol Neurodegener, 2014 Nov 5. PMID 25373618, Free PMC Article
    3. COQ2 gene variants associate with cerebellar subtype of multiple system atrophy in Chinese. Lin CH, et al. Mov Disord, 2015 Mar. PMID 25594503
    4. Lack of evidence for an association between the V393A variant of COQ2 and amyotrophic lateral sclerosis in a Han Chinese population. Yang X, et al. Neurol Sci, 2015 Jul. PMID 25613861
    5. Mutation Analysis of COQ2 in Chinese Patients with Cerebellar Subtype of Multiple System Atrophy. Wen XD, et al. CNS Neurosci Ther, 2015 Aug. PMID 26096180, Free PMC Article

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of COQ2 as a regulator of proliferation and lipid peroxidation through genome-scale CRISPR-Cas9 screening in myeloma cells.
      Title: Identification of COQ2 as a regulator of proliferation and lipid peroxidation through genome-scale CRISPR-Cas9 screening in myeloma cells.
    2. COQ2 and SNCA polymorphisms interact with environmental factors to modulate the risk of multiple system atrophy and subtype disposition.
      Title: COQ2 and SNCA polymorphisms interact with environmental factors to modulate the risk of multiple system atrophy and subtype disposition.
    3. COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree.
      Title: COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree.
    4. Clinical spectrum in multiple families with primary COQ10 deficiency.
      Title: Clinical spectrum in multiple families with primary COQ(10) deficiency.
    5. identified homozygous or compound heterozygous mutations in COQ2 in multiplex families with multiple system atrophy
      Title: Oxygen consumption rate for evaluation of COQ2 variants associated with multiple system atrophy.
    6. COQ2 variants contribute to the pathogenesis of Parkinson's disease
      Title: COQ2 variants in Parkinson's disease and multiple system atrophy.
    7. Results suggest that COQ2 is not a genetic risk factor for multiple system atrophy in Italian population.
      Title: Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy.
    8. CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 homozygous variant p.Gly390Ala was identified by Next Generation Sequencing in two cousins.
      Title: Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.
    9. Recessive causative mutations in COQ2 are very rare in Italian multiple system atrophy patients.
      Title: Mutational analysis of COQ2 in patients with MSA in Italy.
    10. We defined the structure of COQ2 with relevant implications for mutation screening in patients and demonstrated that, contrary to other COQ gene defects such as ADCK3, there is a correlation between COQ2 genotype and patient's phenotype.
      Title: The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.
    Submit: New GeneRIF Correction See all GeneRIFs (29)

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Coenzyme Q10 deficiency, primary, 1
    MedGen: C3551954 OMIM: 607426 GeneReviews: Primary Coenzyme Q10 Deficiency Overview
    		not available
    Multiple system atrophy 1, susceptibility to
    MedGen: C3714927 OMIM: 146500 GeneReviews: Not available
    		not available

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ13014, FLJ26072

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 4-hydroxybenzoate polyprenyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 4-hydroxybenzoate polyprenyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables prenyltransferase activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in glycerol metabolic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in isoprenoid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ubiquinone biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ubiquinone biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ubiquinone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within ubiquinone biosynthetic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in ubiquinone biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ubiquinone biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

    Go to the top of the page Help
    Preferred Names
    4-hydroxybenzoate polyprenyltransferase, mitochondrial
    Names
    4-HB polyprenyltransferase
    4-hydroxybenzoate decaprenyltransferase
    PHB:polyprenyltransferase
    coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
    coenzyme Q2 homolog, prenyltransferase
    para-hydroxybenzoate-polyprenyltransferase, mitochondrial
    NP_001345850.1
    NP_056512.5

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_015825.1 RefSeqGene

      Range
      5117..26091
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001358921.2 → NP_001345850.1  4-hydroxybenzoate polyprenyltransferase, mitochondrial isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses a downstrean in-frame start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AA825250, AC114781, KU877220
      Consensus CDS
      CCDS87234.1
      UniProtKB/Swiss-Prot
      A0A1D8H0A6, O95331, Q1JQ78, Q684R2, Q96H96
      UniProtKB/TrEMBL
      E2QRG7
      Related
      ENSP00000495761.2, ENST00000647002.2
      Conserved Domains (1) summary
      cl00337
      Location:68 → 353
      PT_UbiA; UbiA family of prenyltransferases (PTases)

    2. NM_015697.9 → NP_056512.5  4-hydroxybenzoate polyprenyltransferase, mitochondrial isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA825250, AC114781, KU877220
      Consensus CDS
      CCDS47090.2
      UniProtKB/Swiss-Prot
      Q96H96
      Related
      ENSP00000310873.4, ENST00000311469.9
      Conserved Domains (1) summary
      cl00337
      Location:118 → 403
      PT_UbiA; UbiA family of prenyltransferases (PTases)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      83263824..83285134 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      86593916..86615230 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96H96.2 GenPept UniProtKB/Swiss-Prot:Q96H96

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous