POLG2 (DNA polymerase gamma 2, accessory subunit)

2003-12-01  

Identity

HGNC
LOCATION
17q23.3
LOCUSID
ALIAS
HP55,MTDPS16,MTPOLB,PEOA4,POLB,POLG-BETA,POLGB
FUSION GENES

Other Information

Locus ID:

NCBI: 11232
MIM: 604983
HGNC: 9180
Ensembl: ENSG00000256525

Variants:

dbSNP: 11232
ClinVar: 11232
TCGA: ENSG00000256525
COSMIC: POLG2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000256525ENST00000539111Q9UHN1
ENSG00000256525ENST00000539111E5KS15
ENSG00000256525ENST00000578997J3QRU9
ENSG00000256525ENST00000581355J3KRM2

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Metabolic pathwaysKEGGhsa01100
DNA polymerase gamma complexKEGGhsa_M00294
DNA polymerase gamma complexKEGGM00294
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Mitochondrial biogenesisREACTOMER-HSA-1592230
Transcriptional activation of mitochondrial biogenesisREACTOMER-HSA-2151201

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
174940522007Polymorphism discovery in 62 DNA repair genes and haplotype associations with risks for lung and head and neck cancers.36
196254892009The accessory subunit of mitochondrial DNA polymerase gamma determines the DNA content of mitochondrial nucleoids in human cultured cells.35
215553422011Biochemical analysis of human POLG2 variants associated with mitochondrial disease.32
166977322006Identification of two gene variants associated with risk of advanced fibrosis in patients with chronic hepatitis C.27
198582162010Each monomer of the dimeric accessory protein for human mitochondrial DNA polymerase has a distinct role in conferring processivity.25
194780852009Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.24
123796562002DNA binding properties of human pol gammaB.23
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
185759222008Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.15

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