Skip to content
Use your HSA or FSA funds

Gene

POLG2

DNA polymerase gamma 2, accessory subunit

Summary

Cytogenetic location
17q23.3
Coordinates
Chromosome 17: 64,477,785–64,497,054 (GRCh38)
Exons
8 exons across 19.3 kb
Protein
485 amino acids
Also known as
MTPOLB, HP55
MANE Select transcript
ENST00000539111.7NM_007215.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Primary Mitochondrial Disease

    • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions

      Caused by variants in nuclear genes such as POLG, TWNK, SLC25A4 and RRM2B that lead to multiple mitochondrial DNA deletions, causing drooping eyelids, weak eye movements and muscle weakness, usually in adulthood.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing guides monitoring of eye, heart and swallowing function and avoidance of valproate in POLG disease.

How POLG2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where POLG2 sits. POLG2 and 10 genes near it on chromosome 17, from 63,987,420 to 64,987,419.Chromosome 1717q23.3p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.364 Mb64.2 Mb64.4 Mb64.6 Mb64.8 MbPRR29: 63,998,344–64,004,305, forward strandPRR29ICAM2: 64,002,594–64,020,640, reverse strandICAM2ERN1: 64,039,080–64,130,819, reverse strandERN1TEX2: 64,147,227–64,263,293, reverse strandTEX2PECAM1: 64,319,415–64,431,594, reverse strandPECAM1MILR1: 64,449,037–64,492,770, forward strandMILR1POLG2: 64,477,785–64,497,054, reverse strandPOLG2DDX5: 64,498,253–64,508,199, reverse strandDDX5CEP95: 64,506,753–64,542,461, forward strandCEP95SMURF2: 64,542,282–64,662,356, reverse strandSMURF2LRRC37A3: 64,854,130–64,919,488, reverse strandLRRC37A3Diagram of POLG2: 8 exons on the reverse strand of chromosome 17Exon 3: 1 known disease-causing siteExon 1: 1 known disease-causing siteExon 8: 64,477,785–64,477,988, 204 basesExon 7: 64,480,289–64,480,389, 101 basesExon 6: 64,482,919–64,482,999, 81 basesExon 5: 64,485,728–64,485,868, 141 basesExon 4: 64,490,796–64,490,969, 174 basesExon 3: 64,492,667–64,492,772, 106 basesExon 2: 64,492,895–64,493,021, 127 basesExon 1: 64,496,407–64,497,054, 648 bases864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.6 kb of the gene's 19.3 kb; 1,458 of those bases code for the protein.

How a genome test reads POLG2

4

positions in POLG2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 19.3 kb of POLG2, introns included, not only the 1.6 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). POLG2 gene: DNA polymerase gamma 2, accessory subunit. Retrieved 17 October 2026, from https://dantelabs.com/genes/polg2

Vancouver

Dante Labs. POLG2 gene: DNA polymerase gamma 2, accessory subunit [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/polg2

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test