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    COQ10B coenzyme Q10B [ Homo sapiens (human) ]

    Gene ID: 80219, updated on 27-Nov-2024

    Summary

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    Official Symbol
    COQ10Bprovided by HGNC
    Official Full Name
    coenzyme Q10Bprovided by HGNC
    Primary source
    HGNC:HGNC:25819
    See related
    Ensembl:ENSG00000115520 MIM:620737; AllianceGenome:HGNC:25819
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable ubiquinone binding activity. Predicted to be involved in cellular respiration. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 15.0), bone marrow (RPKM 11.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See COQ10B in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (197453552..197475310)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (197937200..197958936)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (198318276..198340034)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORA4 Neighboring gene splicing factor 3b subunit 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:198299380-198300579 Neighboring gene RNA, U6 small nuclear 1029, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16935 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:198317938-198318554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16938 Neighboring gene uncharacterized LOC124907951 Neighboring gene small nucleolar RNA, H/ACA box 105B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12213 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16939 Neighboring gene heat shock protein family D (Hsp60) member 1 Neighboring gene HSPE1-MOB4 readthrough Neighboring gene heat shock protein family E (Hsp10) member 1

    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. Levels of Coenzyme Q(10) and Several COQ Proteins in Human Astrocytoma Tissues Are Inversely Correlated with Malignancy. Yen HC, et al. Biomolecules, 2022 Feb 20. PMID 35204836, Free PMC Article
    2. Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain. Naess K, et al. J Pediatr, 2021 Jan. PMID 32827528
    3. Assessment of Serum CoQ10 Levels and other Antioxidant Markers in Breast Cancer. El-Attar E, et al. Asian Pac J Cancer Prev, 2020 Feb 1. PMID 32102525, Free PMC Article
    4. Biological insights from 108 schizophrenia-associated genetic loci. Schizophrenia Working Group of the Psychiatric Genomics Consortium. Nature, 2014 Jul 24. PMID 25056061, Free PMC Article
    5. TRIM21 ameliorates hepatic glucose and lipid metabolic disorders in type 2 diabetes mellitus by ubiquitination of PEPCK1 and FASN. Zhang K, et al. Cell Mol Life Sci, 2023 May 30. PMID 37249651, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Levels of Coenzyme Q10 and Several COQ Proteins in Human Astrocytoma Tissues Are Inversely Correlated with Malignancy.
      Title: Levels of Coenzyme Q(10) and Several COQ Proteins in Human Astrocytoma Tissues Are Inversely Correlated with Malignancy.
    2. Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.
      Title: Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.
    3. Assessment of Serum CoQ10 Levels and other Antioxidant Markers in Breast Cancer.
      Title: Assessment of Serum CoQ10 Levels and other Antioxidant Markers in Breast Cancer.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ13448

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ubiquinone binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular respiration IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    coenzyme Q-binding protein COQ10 homolog B, mitochondrial
    Names
    coenzyme Q10 homolog B

    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.

    mRNA and Protein(s)

    1. NM_001320818.2 → NP_001307747.1  coenzyme Q-binding protein COQ10 homolog B, mitochondrial isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC010746
      Consensus CDS
      CCDS82551.1
      UniProtKB/TrEMBL
      B8ZZX2
      Related
      ENSP00000386785.1, ENST00000409398.5
      Conserved Domains (1) summary
      cd07813
      Location:36 → 166
      COQ10p_like; Coenzyme Q-binding protein COQ10p and similar proteins

    2. NM_001320819.2 → NP_001307748.1  coenzyme Q-binding protein COQ10 homolog B, mitochondrial isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AA232326, AC010746, BC022453, DC328985, HY088880
      Consensus CDS
      CCDS82552.1
      UniProtKB/TrEMBL
      B8ZZV9
      Related
      ENSP00000387223.1, ENST00000409010.1
      Conserved Domains (1) summary
      cd07813
      Location:50 → 188
      COQ10p_like; Coenzyme Q-binding protein COQ10p and similar proteins

    3. NM_001320820.2 → NP_001307749.1  coenzyme Q-binding protein COQ10 homolog B, mitochondrial isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AA232326, AC010746, AK294093, BC022453
      UniProtKB/Swiss-Prot
      Q9H8M1
      Conserved Domains (1) summary
      cd07813
      Location:35 → 173
      COQ10p_like; Coenzyme Q-binding protein COQ10p and similar proteins

    4. NM_025147.5 → NP_079423.1  coenzyme Q-binding protein COQ10 homolog B, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_079423.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC010746
      Consensus CDS
      CCDS2319.1
      UniProtKB/Swiss-Prot
      B7Z1Y4, Q9H8M1
      Related
      ENSP00000263960.2, ENST00000263960.7
      Conserved Domains (1) summary
      cd07813
      Location:78 → 216
      COQ10p_like; Coenzyme Q-binding protein COQ10p and similar proteins

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      197453552..197475310
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      197937200..197958936
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H8M1.1 GenPept UniProtKB/Swiss-Prot:Q9H8M1

    Gene LinkOut

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

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