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

Gene ID: 27235, updated on 2-Dec-2019

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
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

Genomic context

See COQ2 in Genome Data Viewer
Location:
4q21.22-q21.23
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (83263824..83285134, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (84184972..84206067, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 10366 Neighboring gene aminomethyltransferase pseudogene Neighboring gene Sharpr-MPRA regulatory region 13773 Neighboring gene uncharacterized LOC105377313 Neighboring gene heparanase Neighboring gene Sharpr-MPRA regulatory region 10996

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13014, FLJ26072

Gene Ontology Provided by GOA

Process Evidence Code Pubs
glycerol metabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
isoprenoid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
ubiquinone biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquinone biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
ubiquinone biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
ubiquinone biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquinone biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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
    4781..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
    Related
    ENSP00000495761.1, ENST00000647002.1
    Conserved Domains (1) summary
    cl00337
    Location:68353
    PT_UbiA; UbiA family of prenyltransferases (PTases)
  2. NM_015697.8NP_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: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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