POLG2
Sign in to saveAlso known as HP55, MTPOLB, PEOA4, POLB, POLG-BETA, POLGB, polymerase (DNA) gamma 2, accessory subunit, DNA polymerase gamma 2, accessory subunit
DNA polymerase subunit gamma-2, mitochondrial is a protein that in humans is encoded by the POLG2 gene. The POLG2 gene encodes a 55 kDa accessory subunit protein that imparts high processivity and salt tolerance to the catalytic subunit of DNA polymerase gamma, encoded by the POLG gene. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.
Gene data
POLG2- Name
- DNA polymerase gamma 2, accessory subunit
- Type
- protein-coding
- Position
- 64,477,781–64,497,071 (−)
- Aliases
- HP55, MTDPS16, MTDPS16A, MTDPS16B, MTPOLB, PEOA4, POLG-BETA, POLGB
- Ensembl
- ENSG00000256525
- RefSeq RNA
- NM_007215.4, XM_047435221.1, XM_047435222.1, XM_047435223.1, XM_047435224.1
- RefSeq protein
- NP_009146.2, XP_047291177.1, XP_047291178.1, XP_047291179.1, XP_047291180.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
DNA polymerase gamma 2, accessory subunit
- Symbol
- POLG2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 17:64,477,706-64,497,071
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein POLG2 PDB 2g4c.png
Show 5 more facts
- HomoloGene ID
- 5221
- exact match
- identifiers.org/ncbigene/11232
- genomic start
- 62473902
- genomic end
- 64497054
- cytogenetic location
- 17q23.3
Sources (4)
via Wikidata · CC0
~2 min read
Article
8 sectionsContents
- Structure
- Function
- Catalytic activity
- Clinical significance
- Interactions
- References
- Further reading
- External links
DNA polymerase subunit gamma-2, mitochondrial is a protein that in humans is encoded by the POLG2 gene. The POLG2 gene encodes a 55 kDa accessory subunit protein that imparts high processivity and salt tolerance to the catalytic subunit of DNA polymerase gamma, encoded by the POLG gene. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.
== Structure == POLG2 is located on the q arm of chromosome 17 in position 23.3 and has 8 exons. POLG2, the protein encoded by this gene, contains a phosphoserine modified residue at p. 38 and a transit peptide. Its structure consists of 25 beta strands, 21 alpha helixes, and 8 turns.