Property Summary

NCBI Gene PubMed Count 28
PubMed Score 19.99
PubTator Score 33.37

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma -1.148 2.3e-04
group 3 medulloblastoma 1.400 1.2e-03
medulloblastoma, large-cell 1.300 9.4e-04

Gene RIF (15)

PMID Text
26403317 Results show that polymorphisms at POLG2 and POLRMT increased risk of oral cancer and leukoplakia, respectively, probably modulating synthesis and activity of the enzymes.
24524965 Mitochondrial DNA (mtDNA) content plays an important role in energy production and sustaining normal physiological function.
22155748 The authors describe the molecular characterization of a potential dominant POLG2 mutation (p.R369G) in a patient with autosomal dominant progressive external ophthalmoplegia and multiple mtDNA deletions.
21734712 Data show that rs17650301 in POLG2 is a good candidate marker for UBC invasiveness in Japanese males.
21555342 The biochemical analysis helps explain the pathogenesis of POLG2 mutations in mitochondrial disease.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19858216 human pol gammaB exhibits a catalytic subunit- and substrate DNA-dependent dimerization.
19625489 Both increased and decreased expression of POLGbeta altered nucleoid structure and precipitated a marked decrease in 7S DNA molecules, which form short displacement-loops on mitochondrial DNA.
19478085 Study represents the first structure-function analysis of the thumb subdomain in pol gamma and examines the consequences of mitochondrial disease mutations in this region.
18575922 Observational study of gene-disease association. (HuGE Navigator)
17494052 Observational study of gene-disease association. (HuGE Navigator)
16697732 Observational study of gene-disease association. (HuGE Navigator)
12379656 PolB gamma can bind double-stranded DNA and may play a role in DNA replication or repair

AA Sequence

MRSRVAVRACHKVCRCLLSGFGGRVDAGQPELLTERSSPKGGHVKSHAELEGNGEHPEAPGSGEGSEALL      1 - 70
EICQRRHFLSGSKQQLSRDSLLSGCHPGFGPLGVELRKNLAAEWWTSVVVFREQVFPVDALHHKPGPLLP     71 - 140
GDSAFRLVSAETLREILQDKELSKEQLVAFLENVLKTSGKLRENLLHGALEHYVNCLDLVNKRLPYGLAQ    141 - 210
IGVCFHPVFDTKQIRNGVKSIGEKTEASLVWFTPPRTSNQWLDFWLRHRLQWWRKFAMSPSNFSSSDCQD    211 - 280
EEGRKGNKLYYNFPWGKELIETLWNLGDHELLHMYPGNVSKLHGRDGRKNVVPCVLSVNGDLDRGMLAYL    281 - 350
YDSFQLTENSFTRKKNLHRKVLKLHPCLAPIKVALDVGRGPTLELRQVCQGLFNELLENGISVWPGYLET    351 - 420
MQSSLEQLYSKYDEMSILFTVLVTETTLENGLIHLRSRDTTMKEMMHISKLKDFLIKYISSAKNV         421 - 485
//

Text Mined References (32)

PMID Year Title
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26403317 2016 Association of DNA sequence variation in mitochondrial DNA polymerase with mitochondrial DNA synthesis and risk of oral cancer.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24524965 2014 Mitochondrial DNA content contributes to healthy aging in Chinese: a study from nonagenarians and centenarians.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22155748 2012 A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase ? subunits.
21734712 2011 A polymorphism of the POLG2 gene is genetically associated with the invasiveness of urinary bladder cancer in Japanese males.
21555342 2011 Biochemical analysis of human POLG2 variants associated with mitochondrial disease.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20843780 2011 Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19858216 2010 Each monomer of the dimeric accessory protein for human mitochondrial DNA polymerase has a distinct role in conferring processivity.
19837034 2009 Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations.
19625489 2009 The accessory subunit of mitochondrial DNA polymerase gamma determines the DNA content of mitochondrial nucleoids in human cultured cells.
19478085 2009 Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.
18575922 2008 Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.
18195150 2008 Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.
18063578 2008 The layered structure of human mitochondrial DNA nucleoids.
17762861 2007 The EM structure of human DNA polymerase gamma reveals a localized contact between the catalytic and accessory subunits.
17494052 2007 Polymorphism discovery in 62 DNA repair genes and haplotype associations with risks for lung and head and neck cancers.
16697732 2006 Identification of two gene variants associated with risk of advanced fibrosis in patients with chronic hepatitis C.
16685652 2006 Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.
16263719 2006 Functional human mitochondrial DNA polymerase gamma forms a heterotrimer.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12379656 2002 DNA binding properties of human pol gammaB.
10677218 2000 Human mitochondrial DNA polymerase holoenzyme: reconstitution and characterization.
10666468 2000 Protein sequences conserved in prokaryotic aminoacyl-tRNA synthetases are important for the activity of the processivity factor of human mitochondrial DNA polymerase.
10608893 1999 The mitochondrial p55 accessory subunit of human DNA polymerase gamma enhances DNA binding, promotes processive DNA synthesis, and confers N-ethylmaleimide resistance.
9153213 1997 Accessory subunit of mitochondrial DNA polymerase from Drosophila embryos. Cloning, molecular analysis, and association in the native enzyme.