Identity
HGNC
LOCATION
17q23.3
LOCUSID
ALIAS
HP55,MTDPS16,MTPOLB,PEOA4,POLB,POLG-BETA,POLGB
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 11232
MIM: 604983
HGNC: 9180
Ensembl: ENSG00000256525
Variants:
dbSNP: 11232
ClinVar: 11232
TCGA: ENSG00000256525
COSMIC: POLG2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000256525 | ENST00000539111 | Q9UHN1 |
| ENSG00000256525 | ENST00000539111 | E5KS15 |
| ENSG00000256525 | ENST00000578997 | J3QRU9 |
| ENSG00000256525 | ENST00000581355 | J3KRM2 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37085601 | 2024 | POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature. | 1 |
| 37085601 | 2024 | POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature. | 1 |
| 37592734 | 2023 | Structure-specific roles for PolG2-DNA complexes in maintenance and replication of mitochondrial DNA. | 3 |
| 37592734 | 2023 | Structure-specific roles for PolG2-DNA complexes in maintenance and replication of mitochondrial DNA. | 3 |
| 32470614 | 2020 | The accessory subunit of human DNA polymerase γ is required for mitochondrial DNA maintenance and is able to stabilize the catalytic subunit. | 4 |
| 33087282 | 2020 | Consequences of compromised mitochondrial genome integrity. | 22 |
| 32470614 | 2020 | The accessory subunit of human DNA polymerase γ is required for mitochondrial DNA maintenance and is able to stabilize the catalytic subunit. | 4 |
| 33087282 | 2020 | Consequences of compromised mitochondrial genome integrity. | 22 |
| 30157269 | 2018 | Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome. | 7 |
| 30157269 | 2018 | Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome. | 7 |
| 26403317 | 2016 | Association of DNA sequence variation in mitochondrial DNA polymerase with mitochondrial DNA synthesis and risk of oral cancer. | 3 |
| 27592148 | 2016 | Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion. | 15 |
| 26403317 | 2016 | Association of DNA sequence variation in mitochondrial DNA polymerase with mitochondrial DNA synthesis and risk of oral cancer. | 3 |
| 27592148 | 2016 | Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion. | 15 |
| 24524965 | 2014 | Mitochondrial DNA content contributes to healthy aging in Chinese: a study from nonagenarians and centenarians. | 0 |
Citation
Dessen P
POLG2 (DNA polymerase gamma 2, accessory subunit)
Atlas Genet Cytogenet Oncol Haematol. 2003-12-01
Online version: http://atlasgeneticsoncology.org/gene/41775/polg2
