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Gene : POLG2 Homo sapiens

Name  ? DNA polymerase gamma 2, accessory subunit Cytological Location  17q23.3
Brief Description  DNA polymerase gamma 2, accessory subunit
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]
  • synonyms:
  • uc002jei.4,
  • MTPOLB,
  • NM_007215,
  • HP55,
  • MTDPS16,
  • POLG-BETA,
  • MTPOLB,
  • POLB,
  • HP55,
  • OTTHUMG00000178899,
  • U94703,
  • polymerase (DNA) gamma 2, accessory subunit,
  • PEOA4,
  • POLGB,
  • polymerase (DNA directed), gamma 2, accessory subunit,
  • POLG2,
  • HGNC:9180
  • identifiers:
  • 11232,
  • ENSG00000256525,
  • POLG2

Genome feature

Region: gene ? Length: 19270  
Location: 17:64477785-64497054 reverse strand Cyto location: 17q23.3


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

Gene --> Proteins.

SNPs

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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

281 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results