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    COQ8B coenzyme Q8B [ Homo sapiens (human) ]

    Gene ID: 79934, updated on 1-Mar-2024

    Summary

    Official Symbol
    COQ8Bprovided by HGNC
    Official Full Name
    coenzyme Q8Bprovided by HGNC
    Primary source
    HGNC:HGNC:19041
    See related
    Ensembl:ENSG00000123815 MIM:615567; AllianceGenome:HGNC:19041
    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
    ADCK4; NPHS9
    Summary
    This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
    Expression
    Ubiquitous expression in prostate (RPKM 8.5), testis (RPKM 8.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See COQ8B in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (40691530..40716886, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (43512196..43537578, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41197435..41222791, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 6117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14657 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41108540-41109063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10637 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10639 Neighboring gene Sharpr-MPRA regulatory region 12022 Neighboring gene latent transforming growth factor beta binding protein 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41119811-41120358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41128498-41129138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41136805-41137395 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:41142798-41142919 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:41153389-41154370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14661 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10641 Neighboring gene NUMB like endocytic adaptor protein Neighboring gene Sharpr-MPRA regulatory region 4590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41194847-41195786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10642 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41196725-41197662 Neighboring gene RNA, U6 small nuclear 195, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10645 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41224841-41225542 Neighboring gene inositol-trisphosphate 3-kinase C Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41249947-41250913 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41250914-41251879 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41255833-41256458 Neighboring gene actin maturation protease

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Nephrotic syndrome, type 9 Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ12229

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables lipid binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT enables protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cerebellar Purkinje cell layer morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ubiquinone biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ubiquinone biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    atypical kinase COQ8B, mitochondrial
    Names
    aarF domain containing kinase 4
    aarF domain-containing protein kinase 4
    coenzyme Q protein 8B

    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_027800.1 RefSeqGene

      Range
      5000..30356
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001142555.3NP_001136027.1  atypical kinase COQ8B, mitochondrial isoform b

      See identical proteins and their annotated locations for NP_001136027.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (b) is shorter than isoform a.
      Source sequence(s)
      AC010412, BC027473, CA397752
      Consensus CDS
      CCDS46081.1
      UniProtKB/TrEMBL
      M0R0L2
      Related
      ENSP00000243583.5, ENST00000243583.10
      Conserved Domains (2) summary
      COG0661
      Location:127471
      AarF; Predicted unusual protein kinase regulating ubiquinone biosynthesis, AarF/ABC1/UbiB family [Coenzyme transport and metabolism, Signal transduction mechanisms]
      cd13970
      Location:134383
      ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3
    2. NM_024876.4NP_079152.3  atypical kinase COQ8B, mitochondrial isoform a

      See identical proteins and their annotated locations for NP_079152.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC010412, AU121879, BC013114, BC013884
      Consensus CDS
      CCDS12562.1
      UniProtKB/Swiss-Prot
      Q8TAJ1, Q96D53, Q9HA52
      UniProtKB/TrEMBL
      M0R0L2
      Related
      ENSP00000315118.3, ENST00000324464.8
      Conserved Domains (1) summary
      cd13970
      Location:175424
      ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      40691530..40716886 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      43512196..43537578 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)