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    COQ4 coenzyme Q4 [ Homo sapiens (human) ]

    Gene ID: 51117, updated on 30-Apr-2024

    Summary

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    Official Symbol
    COQ4provided by HGNC
    Official Full Name
    coenzyme Q4provided by HGNC
    Primary source
    HGNC:HGNC:19693
    See related
    Ensembl:ENSG00000167113 MIM:612898; AllianceGenome:HGNC:19693
    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
    CGI-92; SPAX10; COQ10D7
    Summary
    This gene encodes a component of the coenzyme Q biosynthesis pathway. Coenzyme Q, an essential component of the electron transport chain, shuttles electrons between complexes I or II to complex III of the mitochondrial transport chain. This protein appears to play a structural role in stabilizing a complex that contains most of the coenzyme Q biosynthesis enzymes. Mutations in this gene are associated with mitochondrial disorders linked to coenzyme Q deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
    Expression
    Ubiquitous expression in duodenum (RPKM 20.6), thyroid (RPKM 18.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    9q34.11
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (128322839..128334072)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (140529941..140541174)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131085118..131096351)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene golgin A2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29076 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29077 Neighboring gene SWI5 homologous recombination repair protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:131061384-131061884 Neighboring gene Sharpr-MPRA regulatory region 12606 Neighboring gene Sharpr-MPRA regulatory region 14380 Neighboring gene uncharacterized LOC105376286 Neighboring gene TruB pseudouridine synthase family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29078 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20335 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131095861-131096360 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:131099538-131099696 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:131102183-131102824 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20337 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29079 Neighboring gene tRNA-Arg (anticodon TCT) 3-1 Neighboring gene solute carrier family 27 member 4 Neighboring gene TMSB4X pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease. Cordts I, et al. Mov Disord, 2022 Oct. PMID 36047608
    2. New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ(10) deficiency in muscle or skin fibroblasts. Mero S, et al. J Neurol, 2021 Sep. PMID 33704555
    3. Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leigh syndrome. Lu M, et al. J Hum Genet, 2019 Apr. PMID 30659264
    4. Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q(10) deficiency harboring a heterozygous mutation in COQ4 gene. Romero-Moya D, et al. Stem Cell Res, 2017 Oct. PMID 28465093
    5. Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. Chung WK, et al. J Med Genet, 2015 Sep. PMID 26185144

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells.
      Title: COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells.
    2. Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization.
      Title: Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization.
    3. Epilepsy and Coenzyme Q10 deficiency with COQ4 variants.
      Title: Epilepsy and Coenzyme Q10 deficiency with COQ4 variants.
    4. Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.
      Title: Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.
    5. New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts.
      Title: New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ(10) deficiency in muscle or skin fibroblasts.
    6. Clinical spectrum in multiple families with primary COQ10 deficiency.
      Title: Clinical spectrum in multiple families with primary COQ(10) deficiency.
    7. Based on the genetic testing, preimplantation and prenatal diagnoses were performed, confirming that the next offspring of this family was unaffected. Our cases expand the phenotypic spectrum of COQ4 mutations and the genotypic spectrum of Leigh syndrome
      Title: Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leigh syndrome.
    8. The COQ4 mutation was CRISPR/Cas9 edited resulting in isogenic, diploid and off-target free COQ4-corrected iPSCs.
      Title: Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q(10) deficiency harboring a heterozygous mutation in COQ4 gene.
    9. Three genes in our epilepsy cohort (COQ4, DNM1, and PURA), accounting for 14% (3/21) of all novel genetic etiologies identified in patients with epilepsy, were subsequently confirmed in independent publications.
      Title: Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
    10. five recessive missense mutations in COQ4 segregating with lethal neonatal mitochondrial encephalomyopathy in four families of Ashkenzi Jews
      Title: Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    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
    Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
    MedGen: C5568562 OMIM: 616276 GeneReviews: Primary Coenzyme Q10 Deficiency Overview
    		Compare labs
    Spastic ataxia 10, autosomal recessive
    MedGen: CN375955 OMIM: 620666 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in ubiquinone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ubiquinone biosynthetic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extrinsic component of mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of ubiquinone biosynthesis complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ubiquinone biosynthesis protein COQ4 homolog, mitochondrial
    Names
    coenzyme Q biosynthesis protein 4 homolog
    coenzyme Q4 homolog

    NCBI Reference Sequences (RefSeq)

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    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_042101.2 RefSeqGene

      Range
      5002..16235
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001305942.2 → NP_001292871.2  ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several exons, one of which causes a frameshift in the 5' coding region compared to variant 1. It encodes isoform 2, which has a shorter and unique C-terminus compared to isoform 1.
      Source sequence(s)
      AL359091
      Conserved Domains (1) summary
      cl02093
      Location:46 → 67
      Coq4; Coenzyme Q (ubiquinone) biosynthesis protein Coq4

    2. NM_016035.5 → NP_057119.3  ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL359091
      Consensus CDS
      CCDS6898.1
      UniProtKB/Swiss-Prot
      A8WBK8, B2R958, Q5T4B8, Q96EW4, Q9Y3A0
      Related
      ENSP00000300452.3, ENST00000300452.8
      Conserved Domains (1) summary
      pfam05019
      Location:46 → 258
      Coq4; Coenzyme Q (ubiquinone) biosynthesis protein Coq4

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      128322839..128334072
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014792.2 → XP_016870281.1  ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl02093
      Location:46 → 67
      Coq4; Coenzyme Q (ubiquinone) biosynthesis protein Coq4

    2. XM_047423449.1 → XP_047279405.1  ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform X2

    3. XM_047423448.1 → XP_047279404.1  ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform X1

    4. XM_017014793.2 → XP_016870282.1  ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl02093
      Location:46 → 67
      Coq4; Coenzyme Q (ubiquinone) biosynthesis protein Coq4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      140529941..140541174
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363059.1 → XP_054219034.1  ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform X2

    2. XM_054363058.1 → XP_054219033.1  ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform X2

    3. XM_054363057.1 → XP_054219032.1  ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform X1

    4. XM_054363060.1 → XP_054219035.1  ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y3A0.3 GenPept UniProtKB/Swiss-Prot:Q9Y3A0

    Gene LinkOut

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