NT5C2 (5-nucleotidase, cytosolic II)

2007-02-01  

Identity

HGNC
LOCATION
10q24.32
LOCUSID
ALIAS
GMP,NT5B,PNT5,SPG45,SPG65,cN-II
FUSION GENES

Other Information

Locus ID:

NCBI: 22978
MIM: 600417
HGNC: 8022
Ensembl: ENSG00000076685

Variants:

dbSNP: 22978
ClinVar: 22978
TCGA: ENSG00000076685
COSMIC: NT5C2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000076685ENST00000343289P49902
ENSG00000076685ENST00000343289A0A384MED8
ENSG00000076685ENST00000404739P49902
ENSG00000076685ENST00000404739A0A384MED8
ENSG00000076685ENST00000421281Q5JUV6
ENSG00000076685ENST00000452156Q5JUV4
ENSG00000076685ENST00000458345Q5JUV3
ENSG00000076685ENST00000461461S4R3A6
ENSG00000076685ENST00000470299S4R3E7
ENSG00000076685ENST00000552185H0YHR8

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Pyrimidine metabolismKEGGko00240
Nicotinate and nicotinamide metabolismKEGGko00760
Purine metabolismKEGGhsa00230
Pyrimidine metabolismKEGGhsa00240
Nicotinate and nicotinamide metabolismKEGGhsa00760
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Purine metabolismREACTOMER-HSA-73847
Purine catabolismREACTOMER-HSA-74259
Abacavir transport and metabolismREACTOMER-HSA-2161522
Abacavir metabolismREACTOMER-HSA-2161541

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA445062NeoplasmsDiseaseClinicalAnnotationassociatedPK22838949, 24300978
PA447230HIVDiseaseClinicalAnnotationassociatedPD23315321
PA449177cytarabineChemicalVariantAnnotationassociatedPD
PA449301didanosineChemicalClinicalAnnotationassociatedPD23315321
PA449748gemcitabineChemicalClinicalAnnotationassociatedPK22838949, 24300978
PA450379mercaptopurineChemicalMultilinkAnnotationassociated15990089

References

Pubmed IDYearTitleCitations
233772812013Activating mutations in the NT5C2 nucleotidase gene drive chemotherapy resistance in relapsed ALL.128
233771832013Relapse-specific mutations in NT5C2 in childhood acute lymphoblastic leukemia.100
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
248615532014Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.57
210457332011Discovery and replication of novel blood pressure genetic loci in the Women's Genome Health Study.31
159230582005cN-II expression predicts survival in patients receiving gemcitabine for advanced non-small cell lung cancer.22
174058782007Crystal structure of human cytosolic 5'-nucleotidase II: insights into allosteric regulation and substrate recognition.19
213969422011Structural basis for the allosteric regulation and substrate recognition of human cytosolic 5'-nucleotidase II.18
220714132012Genetic variations in the CYP17A1 and NT5C2 genes are associated with a reduction in visceral and subcutaneous fat areas in Japanese women.12
270045902016Genome-wide significant schizophrenia risk variation on chromosome 10q24 is associated with altered cis-regulation of BORCS7, AS3MT, and NT5C2 in the human brain.12

Citation

Dessen P

NT5C2 (5-nucleotidase, cytosolic II)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46089/nt5c2