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

    Gene ID: 11232, updated on 30-Jun-2015
    Official Symbol
    POLG2provided by HGNC
    Official Full Name
    polymerase (DNA directed), gamma 2, accessory subunitprovided by HGNC
    Primary source
    HGNC:HGNC:9180
    See related
    Ensembl:ENSG00000256525; HPRD:09228; MIM:604983; Vega:OTTHUMG00000178899
    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; 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]
    Orthologs
    See POLG2 in Epigenomics, MapViewer
    Location:
    17q
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (64476994..64497066, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (62473902..62493184, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene platelet/endothelial cell adhesion molecule 1 Neighboring gene microRNA 1273e Neighboring gene mast cell immunoglobulin-like receptor 1 Neighboring gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 4 Neighboring gene microRNA 3064 Neighboring gene microRNA 5047 Neighboring gene DEAD (Asp-Glu-Ala-Asp) box helicase 5

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA-directed DNA polymerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    DNA biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    DNA replication NAS
    Non-traceable Author Statement
    more info
    PubMed 
    DNA-dependent DNA replication TAS
    Traceable Author Statement
    more info
    PubMed 
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitochondrion morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion organization TAS
    Traceable Author Statement
    more info
     
    organelle organization TAS
    Traceable Author Statement
    more info
     
    respiratory electron transport chain IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial chromosome TAS
    Traceable Author Statement
    more info
    PubMed 
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    DNA polymerase subunit gamma-2, mitochondrial
    Names
    DNA polymerase gamma accessory 55 kDa subunit
    mitochondrial DNA polymerase accessory subunit
    mitochondrial DNA polymerase subunit gamma-2
    mitochondrial DNA polymerase, accessory subunit
    p55
    NP_009146.2

    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
      5001..24283
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_007215.3NP_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/TrEMBL
      E5KS15
      UniProtKB/Swiss-Prot
      Q9UHN1
      Related
      ENSP00000442563, OTTHUMP00000260267, ENST00000539111, OTTHUMT00000443820
      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 ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

      Range
      64476994..64497066
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006721651.2XP_006721714.1  

      Conserved Domains (1) summary
      cl00268
      Location:69318
      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 ...

    RNA

    1. XR_934357.1 RNA Sequence

    2. XR_243630.1 RNA Sequence

    3. XR_934358.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      62537826..62557108
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)