Gene:
NT5C2
5'-nucleotidase, cytosolic II

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

? = Mouse-over for quick help

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

List of all variant annotations for NT5C2

Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available CA VA
rs11191561 NC_000010.10:g.104869531C>G, NC_000010.11:g.103109774C>G, NG_042272.1:g.88533G>C, NM_001134373.2:c.176-3068G>C, NM_012229.4:c.176-3068G>C, XM_005269632.1:c.176-3068G>C, XM_005269632.3:c.176-3068G>C, XM_005269633.1:c.176-3068G>C, XM_005269633.3:c.176-3068G>C, XM_005269634.1:c.176-3068G>C, XM_005269634.3:c.176-3068G>C, XM_005269635.1:c.176-3068G>C, XM_005269635.3:c.176-3068G>C, XM_005269636.1:c.176-3068G>C, XM_005269636.3:c.176-3068G>C, XM_005269637.1:c.89-3068G>C, XM_005269637.3:c.89-3068G>C, XM_005269638.1:c.80-3068G>C, XM_005269638.3:c.80-3068G>C, XM_005269639.1:c.89-3068G>C, XM_005269639.3:c.89-3068G>C, XM_005269640.1:c.-399+1971G>C, XM_005269640.3:c.-399+1971G>C, XM_005269641.1:c.-399+1971G>C, XM_005269641.3:c.-399+1971G>C, XM_005269642.1:c.-399+1971G>C, XM_005269642.3:c.-399+1971G>C, XM_005269643.1:c.-398-3068G>C, XM_005269643.3:c.-398-3068G>C, XM_005269644.1:c.-423+1971G>C, XM_005269644.3:c.-423+1971G>C, XM_005269645.1:c.-423+1971G>C, XM_005269645.3:c.-423+1971G>C, XM_005269646.1:c.-423+1971G>C, XM_005269646.3:c.-423+1971G>C, XM_006717721.2:c.-399+1971G>C, XM_006717722.2:c.-280-3973G>C, XM_006717723.2:c.-280-3973G>C, XM_006717724.2:c.-304-3973G>C, XM_011539534.1:c.176-3068G>C, XM_011539535.1:c.67+1971G>C, XM_011539536.1:c.83-3068G>C, XM_011539537.1:c.176-3068G>C, rs52823845, rs56602986
C > G
SNP
No VIP available No Clinical Annotations available VA
rs11191612
A > G
SNP
No VIP available CA VA
rs11598702 NC_000010.10:g.104897985T>C, NC_000010.11:g.103138228T>C, NG_042272.1:g.60079A>G, NM_001134373.2:c.175+1178A>G, NM_012229.4:c.175+1178A>G, XM_005269632.1:c.175+1178A>G, XM_005269632.3:c.175+1178A>G, XM_005269633.1:c.175+1178A>G, XM_005269633.3:c.175+1178A>G, XM_005269634.1:c.175+1178A>G, XM_005269634.3:c.175+1178A>G, XM_005269635.1:c.175+1178A>G, XM_005269635.3:c.175+1178A>G, XM_005269636.1:c.175+1178A>G, XM_005269636.3:c.175+1178A>G, XM_005269637.1:c.88+1178A>G, XM_005269637.3:c.88+1178A>G, XM_005269638.1:c.79+1178A>G, XM_005269638.3:c.79+1178A>G, XM_005269639.1:c.88+1178A>G, XM_005269639.3:c.88+1178A>G, XM_005269640.1:c.-460+1178A>G, XM_005269640.3:c.-460+1178A>G, XM_005269641.1:c.-460+1178A>G, XM_005269641.3:c.-460+1178A>G, XM_005269642.1:c.-460+1178A>G, XM_005269642.3:c.-460+1178A>G, XM_005269643.1:c.-398-31522A>G, XM_005269643.3:c.-398-31522A>G, XM_005269644.1:c.-484+1178A>G, XM_005269644.3:c.-484+1178A>G, XM_005269645.1:c.-484+1178A>G, XM_005269645.3:c.-484+1178A>G, XM_005269646.1:c.-483-26423A>G, XM_005269646.3:c.-483-26423A>G, XM_006717721.2:c.-459-26423A>G, XM_006717722.2:c.-281+1178A>G, XM_006717723.2:c.-281+1178A>G, XM_006717724.2:c.-305+1178A>G, XM_011539534.1:c.175+1178A>G, XM_011539535.1:c.-1974A>G, XM_011539536.1:c.-43+1178A>G, XM_011539537.1:c.175+1178A>G, rs17728547, rs52826896, rs61084912
T > C
SNP
No VIP available No Clinical Annotations available VA
rs1163075
G > A
SNP
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Alternate Names:  NT5B; purine 5' nucleotidase
Alternate Symbols:  GMP; PNT5; SPG65; cN-II
PharmGKB Accession Id: PA31801

Details

Cytogenetic Location: chr10 : q24.32 - q24.33
GP mRNA Boundary: chr10 : 104847774 - 104953063
GP Gene Boundary: chr10 : 104844774 - 104963063
Strand: minus

Visualization

UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.
No related genes are available

Curated Information ?

Curated Information ?

Publications related to NT5C2: 13

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PharmGKB summary: gemcitabine pathway. Pharmacogenetics and genomics. 2014. Alvarellos Maria L, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
SLC28A3 genotype and gemcitabine rate of infusion affect dFdCTP metabolite disposition in patients with solid tumours. British journal of cancer. 2014. Khatri A, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Genetic determinants of idiopathic noncirrhotic portal hypertension in HIV-infected patients. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America. 2013. Vispo Eugenia, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Relapse-specific mutations in NT5C2 in childhood acute lymphoblastic leukemia. Nature genetics. 2013. Meyer Julia A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Activating mutations in the NT5C2 nucleotidase gene drive chemotherapy resistance in relapsed ALL. Nature medicine. 2013. Tzoneva Gannie, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Pathway-based pharmacogenomics of gemcitabine pharmacokinetics in patients with solid tumors. Pharmacogenomics. 2012. Mitra Amit K, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Genetic variants in cytosolic 5'-nucleotidase II are associated with its expression and cytarabine sensitivity in HapMap cell lines and in patients with acute myeloid leukemia. The Journal of pharmacology and experimental therapeutics. 2011. Mitra Amit K, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Expression of gemcitabine- and cisplatin-related genes in non-small-cell lung cancer. The pharmacogenomics journal. 2010. Toffalorio F, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Population-specific genetic variants important in susceptibility to cytarabine arabinoside cytotoxicity. Blood. 2009. Hartford Christine M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Clinical significance of high-Km 5'-nucleotidase (cN-II) mRNA expression in high-risk myelodysplastic syndrome. Leukemia research. 2007. Suzuki Keijiro, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The prognostic value of cN-II and cN-III enzymes in adult acute myeloid leukemia. Haematologica. 2005. Galmarini Carlos María, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Role of 5'-nucleotidase in thiopurine metabolism: enzyme kinetic profile and association with thio-GMP levels in patients with acute lymphoblastic leukemia during 6-mercaptopurine treatment. Clinica chimica acta; international journal of clinical chemistry. 2005. Brouwer Connie, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
cN-II expression predicts survival in patients receiving gemcitabine for advanced non-small cell lung cancer. Lung cancer (Amsterdam, Netherlands). 2005. Sève Pascal, et al. PubMed

LinkOuts

NCBI Gene:
22978
OMIM:
600417
UCSC Genome Browser:
NM_012229
RefSeq RNA:
NM_001134373
NM_012229
RefSeq Protein:
NP_001127845
NP_036361
RefSeq DNA:
NT_030059
HuGE:
NT5C2
Comparative Toxicogenomics Database:
22978
ModBase:
P49902
HumanCyc Gene:
HS01216
HGNC:
8022

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