Property Summary

NCBI Gene PubMed Count 16
Grant Count 2
R01 Count 2
Funding $83,880.88
PubMed Score 22.49
PubTator Score 13.40

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
astrocytic glioma -1.800 0.009
glioblastoma -1.200 0.003
intraductal papillary-mucinous neoplasm ... 1.200 0.002
lung cancer 1.600 0.008
adult high grade glioma -1.100 0.002
ovarian cancer 1.800 0.000

Gene RIF (8)

PMID Text
26878724 Patients with defective NUDT15 alleles showed excessive levels of thiopurine active metabolites and toxicity. [meta-analysis]
26405151 NUDT15 c.415C>T increases risk of 6-mercaptopurine induced myelosuppression during maintenance therapy in children with acute lymphoblastic leukemia.
26238318 Depletion of NUDT15 has no effect on incorporation of 8-oxo-dGTP into DNA and does not impact cancer cell survival in cell lines tested. NUDT15 is not a biologically relevant 8-oxo-dGTPase
26033531 Event-free survival did not significantly differ by NUDT15 genotype. rs116855232 is an important determinant of 6-MP myelotoxicity in Japanese children with ALL and may represent the most robust toxicity-related locus in Asians to date.
25624441 Describe a germline variant in NUDT15 strongly associated with mercaptopurine intolerance in childhood acute lymphoblastic leukemia, which may have implications for treatment individualization in this disease.
25108385 Authros identified a nonsynonymous SNP in NUDT15 (encoding p.Arg139Cys) that was strongly associated with thiopurine-induced early leukopenia (odds ratio (OR) = 35.6; P(combined) = 4.88 x 10(-94)).
20144704 human MTH1, MTH2, and NUDT5 proteins act as a defense against the mutagenesis induced by oxidized dGTP.
19419956 Data demonstrate for the first time that PCNA is protected by this newly identified partner molecule MTH2, which is related to DNA synthesis and cell cycle progression.

AA Sequence

MTASAQPRGRRPGVGVGVVVTSCKHPRCVLLGKRKGSVGAGSFQLPGGHLEFGETWEECAQRETWEEAAL      1 - 70
HLKNVHFASVVNSFIEKENYHYVTILMKGEVDVTHDSEPKNVEPEKNESWEWVPWEELPPLDQLFWGLRC     71 - 140
LKEQGYDPFKEDLNHLVGYKGNHL                                                  141 - 164
//

Text Mined References (18)

PMID Year Title
26878724 2016 NUDT15 polymorphisms alter thiopurine metabolism and hematopoietic toxicity.
26405151 2016 NUDT15 c.415C>T increases risk of 6-mercaptopurine induced myelosuppression during maintenance therapy in children with acute lymphoblastic leukemia.
26238318 2015 Crystal structure, biochemical and cellular activities demonstrate separate functions of MTH1 and MTH2.
26067482 2015 Update on thiopurine pharmacogenetics in inflammatory bowel disease.
26033531 2015 Susceptibility to 6-MP toxicity conferred by a NUDT15 variant in Japanese children with acute lymphoblastic leukaemia.
25624441 2015 Inherited NUDT15 variant is a genetic determinant of mercaptopurine intolerance in children with acute lymphoblastic leukemia.
25108385 2014 A common missense variant in NUDT15 confers susceptibility to thiopurine-induced leukopenia.
22556419 2012 Human MTH3 (NUDT18) protein hydrolyzes oxidized forms of guanosine and deoxyguanosine diphosphates: comparison with MTH1 and MTH2.
21269460 2011 Initial characterization of the human central proteome.
20144704 2010 Suppression of mutagenesis by 8-hydroxy-2'-deoxyguanosine 5'-triphosphate (7,8-dihydro-8-oxo-2'-deoxyguanosine 5'-triphosphate) by human MTH1, MTH2, and NUDT5.
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