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

    Gene ID: 27235, updated on 22-Apr-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See COQ2 in Genome Data Viewer
    Location:
    4q21.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (83263824..83285134, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (86593916..86615230, complement)
    105.20220307 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 chromosome 18 open reading frame 21 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ13014, FLJ26072

    Gene Ontology Provided by GOA

    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
     

    General protein information

    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)

    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_001358921.2NP_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:68353
      PT_UbiA; UbiA family of prenyltransferases (PTases)
    2. NM_015697.9NP_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:118403
      PT_UbiA; UbiA family of prenyltransferases (PTases)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)