Property Summary

NCBI Gene PubMed Count 28
Grant Count 10
R01 Count 4
Funding $1,742,166.8
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 0.000
group 3 medulloblastoma 1.400 0.001
medulloblastoma, large-cell 1.300 0.001

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.
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AA Sequence

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