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

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: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Clinical spectrum in multiple families with primary COQ10 deficiency.
Title: Clinical spectrum in multiple families with primary COQ(10) deficiency.
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.
COQ2 variants contribute to the pathogenesis of Parkinson's disease
Title: COQ2 variants in Parkinson's disease and multiple system atrophy.
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.
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.
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.
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

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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	Compare labs
Multiple system atrophy 1, susceptibility to MedGen: C3714927 OMIM: 146500 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 4-hydroxybenzoate decaprenyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 4-hydroxybenzoate decaprenyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables 4-hydroxybenzoate decaprenyltransferase activity	TAS Traceable Author Statement more info
enables 4-hydroxybenzoate nonaprenyltransferase activity	IEA Inferred from Electronic Annotation more info
enables 4-hydroxybenzoate octaprenyltransferase activity	IEA Inferred from Electronic Annotation more info
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

General protein information

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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

EC 2.5.1.39

NP_056512.5

EC 2.5.1.39

NCBI Reference Sequences (RefSeq)

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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

NG_015825.1 RefSeqGene

Range

5117..26091

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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)