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    POLG2 DNA polymerase gamma 2, accessory subunit [ Homo sapiens (human) ]

    Gene ID: 11232, updated on 24-Jul-2021

    Summary

    Official Symbol
    POLG2provided by HGNC
    Official Full Name
    DNA polymerase gamma 2, accessory subunitprovided by HGNC
    Primary source
    HGNC:HGNC:9180
    See related
    Ensembl:ENSG00000256525 MIM:604983
    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
    HP55; POLB; PEOA4; POLGB; MTPOLB; MTDPS16; MTDPS16A; MTDPS16B; POLG-BETA
    Summary
    This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009]
    Expression
    Broad expression in testis (RPKM 7.8), lymph node (RPKM 4.4) and 25 other tissues See more
    Orthologs
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    Genomic context

    See POLG2 in Genome Data Viewer
    Location:
    17q23.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (64477785..64497054, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (62473902..62493172, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L31 pseudogene 57 Neighboring gene platelet and endothelial cell adhesion molecule 1 Neighboring gene mast cell immunoglobulin like receptor 1 Neighboring gene ATP synthase membrane subunit f pseudogene 4 Neighboring gene microRNA 3064 Neighboring gene microRNA 5047 Neighboring gene DEAD-box helicase 5

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA polymerase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables DNA polymerase processivity factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-directed DNA polymerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA-dependent DNA replication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrial DNA metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrial DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in mitochondrial DNA replication IC
    Inferred by Curator
    more info
    PubMed 
    involved_in mitochondrion morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-directed DNA polymerase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in respiratory electron transport chain IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of gamma DNA polymerase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    DNA polymerase subunit gamma-2, mitochondrial
    Names
    DNA polymerase gamma accessory 55 kDa subunit
    mitochondrial DNA polymerase subunit gamma-2
    mitochondrial DNA polymerase, accessory subunit
    p55
    polymerase (DNA directed), gamma 2, accessory subunit
    polymerase (DNA) gamma 2, accessory subunit
    NP_009146.2

    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

    1. NG_013029.1 RefSeqGene

      Range
      5013..24283
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_007215.4NP_009146.2  DNA polymerase subunit gamma-2, mitochondrial

      See identical proteins and their annotated locations for NP_009146.2

      Status: REVIEWED

      Source sequence(s)
      BC000913, BC009194, BI826587
      Consensus CDS
      CCDS32706.1
      UniProtKB/Swiss-Prot
      Q9UHN1
      UniProtKB/TrEMBL
      E5KS15
      Related
      ENSP00000442563.2, ENST00000539111.7
      Conserved Domains (3) summary
      PRK04173
      Location:99479
      PRK04173; glycyl-tRNA synthetase; Provisional
      cd02426
      Location:354481
      Pol_gamma_b_Cterm; C-terminal domain of mitochondrial DNA polymerase gamma B subunit, which is required for processivity. Polymerase gamma replicates and repairs mitochondrial DNA. The c-terminal domain of its B subunit is strikingly similar to the anticodon-binding domain ...
      cl00268
      Location:69350
      class_II_aaRS-like_core; Class II tRNA amino-acyl synthetase-like catalytic core domain. Class II amino acyl-tRNA synthetases (aaRS) share a common fold and generally attach an amino acid to the 3' OH of ribose of the appropriate tRNA. PheRS is an exception in that it attaches ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      64477785..64497054 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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