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

    Gene ID: 11232, updated on 10-Dec-2024

    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; AllianceGenome:HGNC:9180
    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
    NEW
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    Genomic context

    See POLG2 in Genome Data Viewer
    Location:
    17q23.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (64477785..64497054, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (65347539..65366810, complement)
    RS_2024_09 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 ReSE screen-validated silencer GRCh37_chr17:62398397-62398608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12589 Neighboring gene platelet and endothelial cell adhesion molecule 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12591 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12592 Neighboring gene mast cell immunoglobulin like receptor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:62469307-62469807 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:62486099-62486273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:62492349-62493208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12594 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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

    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 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of gamma DNA polymerase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of gamma DNA polymerase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in mitochondrial matrix 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 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    DNA polymerase subunit gamma-2
    Names
    DNA polymerase gamma accessory 55 kDa subunit
    DNA polymerase subunit gamma-2, mitochondrial
    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
    XP_047291177.1
    XP_047291178.1
    XP_047291179.1
    XP_047291180.1
    XP_054170833.1
    XP_054170834.1
    XP_054170835.1
    XP_054170836.1

    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_013029.2 RefSeqGene

      Range
      5000..24269
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      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
      O00419, Q0IJ81, Q96GW2, Q9UHN1, Q9UK35, Q9UK94
      UniProtKB/TrEMBL
      E5KS15, E5KS22
      Related
      ENSP00000442563.2, ENST00000539111.7
      Conserved Domains (2) summary
      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: 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_000017.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047435222.1XP_047291178.1  DNA polymerase subunit gamma-2 isoform X2

      UniProtKB/TrEMBL
      A0A5F9ZHX9
    2. XM_047435223.1XP_047291179.1  DNA polymerase subunit gamma-2 isoform X3

      UniProtKB/TrEMBL
      A0A5F9ZHX9
      Related
      ENSP00000500690.1, ENST00000671755.1
    3. XM_047435221.1XP_047291177.1  DNA polymerase subunit gamma-2 isoform X1

      UniProtKB/TrEMBL
      A0A5F9ZHX9
    4. XM_047435224.1XP_047291180.1  DNA polymerase subunit gamma-2 isoform X4

      UniProtKB/TrEMBL
      A0A5F9ZH93
      Related
      ENSP00000500198.1, ENST00000673460.1

    RNA

    1. XR_007065259.1 RNA Sequence

      Related
      ENST00000585104.2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      65347539..65366810 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314859.1XP_054170834.1  DNA polymerase subunit gamma-2 isoform X2

      UniProtKB/TrEMBL
      A0A5F9ZHX9
    2. XM_054314860.1XP_054170835.1  DNA polymerase subunit gamma-2 isoform X3

      UniProtKB/TrEMBL
      A0A5F9ZHX9
    3. XM_054314858.1XP_054170833.1  DNA polymerase subunit gamma-2 isoform X5

      UniProtKB/TrEMBL
      A0A5F9ZHX9
    4. XM_054314861.1XP_054170836.1  DNA polymerase subunit gamma-2 isoform X4

      UniProtKB/TrEMBL
      A0A5F9ZH93

    RNA

    1. XR_008484774.1 RNA Sequence

    2. XR_008484775.1 RNA Sequence

    3. XR_008484776.1 RNA Sequence