Gene

NT5C2

5'-nucleotidase, cytosolic II

Explore in graph →CI-GENE-00017315HGNC:8022 ENSG00000076685 NCBI 22978 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (19)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–19 of 19 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
NT5C2 D407A2
Mercaptopurine + ThioguanineSubstitutes	T Acute Lymphoblastic LeukemiaCURATED_BROADER	Predictive	D	Supports

Cohorts

Alteration frequency by cohort (3)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved3 cohort rows · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Kidney Renal Clear Cell Carcinoma (IRC, Nat Genet 2014) ccrcc_irc_2014	Clear Cell Renal Cell Carcinoma	Ssm	8

Literature

Linked publications (2)

25 per page, newest first.

pubmedPublishedShowing 1–2 of 2 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Activating mutations in the NT5C2 nucleotidase gene drive chemotherapy resistance in relapsed ALL.
· Nat Med · 2013 · PMID 23377281 · validated civic_curation pubmed
Relapse-specific mutations in NT5C2 in childhood acute lymphoblastic leukemia.
· Nat Genet · 2013 · PMID 23377183 · validated civic_curation pubmed

NT5C2 K359Q3
(prognostic)	Acute Lymphoblastic Leukemia	Prognostic	B	Supports Poor Outcome	4	accepted	EID667 The K359Q somatic mutation was significantly correlated with early disease recurrence and relapse in 103 T-cell ALL regardless of treatment course. The data was obtained from Berlin Frankfurt Münster … (full text at CIViC) PMID 23377281 · Tzoneva et al., 2013 · Open in CIViC	civic
Arabinosylguanine + NelarabineSubstitutes	T Acute Lymphoblastic LeukemiaCURATED_BROADER	Predictive	D	Does Not Support Resistance	4	accepted	EID636 CCRF-CEM and CUTLL1 T-ALL cell lines expressing NT5C2 mutant proteins (K359Q, R367Q or D407A) observed in relapsed T-ALL patients showed no difference in sensitivity to nelarabine or arabinosylguanine… (full text at CIViC) PMID 23377281 · Tzoneva et al., 2013 · Open in CIViC	civic
Mercaptopurine + ThioguanineSubstitutes	T Acute Lymphoblastic LeukemiaCURATED_BROADER	Predictive	D	Supports Resistance	4	accepted	EID631 CCRF-CEM and to a lesser extent CUTLL1 T-ALL cell lines expressing the NT5C2 K359Q mutation had increased resistance to 6-mercaptopurine and 6-thioguanine treatment than cells expressing wildtype NT5C… (full text at CIViC) PMID 23377281 · Tzoneva et al., 2013 · Open in CIViC	civic

NT5C2 R238W4
(prognostic)	Childhood Acute Lymphoblastic LeukemiaALIAS	Prognostic	C	Supports Poor Outcome	2	accepted	EID7863 71 Childhood B-cell acute lymphocytic leukemia relapse patients had their diagnosis and relapse samples sequenced for NT5C2 mutations. Sequencing revealed 3 early relapse cases with NT5C2 R238W enrich… (full text at CIViC) PMID 23377183 · Meyer et al., 2013 · Open in CIViC	civic
Cytarabine + Doxorubicin + Gemcitabine + PrednisoloneSubstitutes	Childhood Acute Lymphoblastic LeukemiaALIAS	Predictive	D	Does Not Support Resistance	4	accepted	EID7816 Overexpression of NT5C2 R238W in Reh cells resulted in no change in response to cytarabine, gemcitabine, doxorubicin or prednisolone versus wildtype or GFP controls as indicated by similar apoptosis. PMID 23377183 · Meyer et al., 2013 · Open in CIViC	civic
Mercaptopurine + ThioguanineSubstitutes	B Lymphoblastic Leukemia/LymphomaCURATED_BROADER	Predictive	D	Supports Resistance	2	submitted	EID8077 Lentiviral-mediated overexpression of NT5C2 R238W (a relapse specific variant) in Reh cells resulted in resistance against thiopurines (mercaptopurine and thioguanine) compared to NT5C2 wildtype overe… (full text at CIViC) PMID 25962120 · Li et al., 2015 · Open in CIViC	civic
Mercaptopurine + ThioguanineSubstitutes	Childhood Acute Lymphoblastic LeukemiaALIAS	Predictive	D	Supports Resistance	4	accepted	EID7813 Lentiviral-mediated overexpression of NT5C2 R238W in Reh cells resulted in significant resistance against thiopurines (mercaptopurine and thioguanine) versus wildtype and GFP controls, as indicated by… (full text at CIViC) PMID 23377183 · Meyer et al., 2013 · Open in CIViC	civic

NT5C2 R367Q6
Cytarabine + Doxorubicin + Gemcitabine + PrednisoloneSubstitutes	Childhood Acute Lymphoblastic LeukemiaALIAS	Predictive	D	Does Not Support Resistance	4	accepted	EID7815 Lentiviral mediated overexpression of NT5C2 R367Q in Reh cells resulted in no change in apoptosis after exposure to cytarabine, gemcitabine, doxorubicin, or prednisolone compared to wildtype NT5C2 ove… (full text at CIViC) PMID 23377183 · Meyer et al., 2013 · Open in CIViC	civic
Mercaptopurine + ThioguanineSubstitutes	T Acute Lymphoblastic LeukemiaCURATED_BROADER	Predictive	D	Supports Resistance	4	accepted	EID630 CCRF-CEM and to a lesser extent CUTLL1 T-ALL cell lines expressing the NT5C2 R367Q mutation had increased resistance to 6-mercaptopurine and 6-thioguanine treatment than cells expressing wildtype NT5C… (full text at CIViC) PMID 23377281 · Tzoneva et al., 2013 · Open in CIViC	civic
Arabinosylguanine + NelarabineSubstitutes	T Acute Lymphoblastic LeukemiaCURATED_BROADER	Predictive	C	Supports Sensitivity Response	4	rejected	EID634 CCRF-CEM and CUTLL1 T-ALL cell lines expressing NT5C2 mutant proteins (R367Q, R359Q or D407A) observed in relapsed T-ALL patients showed no difference in sensitivity to nelarabine or arabinosylguanine… (full text at CIViC) PMID 23377281 · Tzoneva et al., 2013 · Open in CIViC	civic
〃	T Acute Lymphoblastic LeukemiaCURATED_BROADER	Predictive	D	Does Not Support Resistance	4	accepted	EID633 CCRF-CEM and CUTLL1 T-ALL cell lines expressing NT5C2 mutant proteins (K359Q, R367Q or D407A) observed in relapsed T-ALL patients showed no difference in sensitivity to nelarabine or arabinosylguanine… (full text at CIViC) PMID 23377281 · Tzoneva et al., 2013 · Open in CIViC	civic
Mercaptopurine + ThioguanineSubstitutes	Childhood Acute Lymphoblastic LeukemiaALIAS	Predictive	C	Supports Resistance	2	accepted	EID7812 71 Childhood B-cell acute lymphocytic leukemia relapse patients had their diagnosis and relapse samples sequenced for NT5C2 mutations. Sequencing revealed an early relapse case with NT5C2 R367Q enrich… (full text at CIViC) PMID 23377183 · Meyer et al., 2013 · Open in CIViC	civic
〃	Childhood Acute Lymphoblastic LeukemiaALIAS	Predictive	D	Supports Resistance	4	accepted	EID7862 Lentiviral-mediated overexpression of NT5C2 R367Q in Reh cells resulted in significant resistance against thiopurines (mercaptopurine and thioguanine) versus wildtype and GFP controls, as indicated by… (full text at CIViC) PMID 23377183 · Meyer et al., 2013 · Open in CIViC	civic

NT5C2 S445F3
(prognostic)	Childhood Acute Lymphoblastic LeukemiaALIAS	Prognostic	C	Supports Poor Outcome	2	accepted	EID7864 71 Childhood B-cell acute lymphocytic leukemia relapse patients had their diagnosis and relapse samples sequenced for NT5C2 mutations. Sequencing revealed an early relapse case with NT5C2 S445F enrich… (full text at CIViC) PMID 23377183 · Meyer et al., 2013 · Open in CIViC	civic
Cytarabine + Doxorubicin + Gemcitabine + PrednisoloneSubstitutes	Childhood Acute Lymphoblastic LeukemiaALIAS	Predictive	D	Does Not Support Resistance	4	accepted	EID7817 Overexpression of NT5C2 S445F in Reh cells resulted in no change in response to cytarabine, gemcitabine, doxorubicin or prednisolone versus wildtype or GFP controls as indicated by similar apoptosis. PMID 23377183 · Meyer et al., 2013 · Open in CIViC	civic
Mercaptopurine + ThioguanineSubstitutes	Childhood Acute Lymphoblastic LeukemiaALIAS	Predictive	D	Supports Resistance	4	accepted	EID7814 Lentiviral-mediated overexpression of NT5C2 S445F in Reh cells resulted in significant resistance against thiopurines (mercaptopurine and thioguanine) versus wildtype and GFP controls, as indicated by… (full text at CIViC) PMID 23377183 · Meyer et al., 2013 · Open in CIViC	civic