Version: 8.0.0
Date: Tue Jan 28 2025
POLG2
Homo sapiensHGNC:9180
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

POLG2

Species
Homo sapiens
Symbol
POLG2
Name
DNA polymerase gamma 2, accessory subunit
Synonyms
  • DNA polymerase gamma accessory 55 kDa subunit
  • DNA polymerase subunit gamma-2
Biotype
protein coding gene
Automated Description
Enables DNA polymerase binding activity; DNA polymerase processivity factor activity; and double-stranded DNA binding activity. Involved in mitochondrial DNA replication and positive regulation of DNA-directed DNA polymerase activity. Located in mitochondrial nucleoid. Part of gamma DNA polymerase complex. Implicated in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4; mitochondrial DNA depletion syndrome 16; and mitochondrial DNA depletion syndrome 16B.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10745
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          POLG2 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            POLG2 role
            POLG2 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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