ITPA (inosine triphosphatase)

2009-03-01  

Identity

HGNC
LOCATION
20p13
LOCUSID
ALIAS
C20orf37,DEE35,HLC14-06-P,ITPase,My049,NTPase,dJ794I6.3
FUSION GENES

Other Information

Locus ID:

NCBI: 3704
MIM: 147520
HGNC: 6176
Ensembl: ENSG00000125877

Variants:

dbSNP: 3704
ClinVar: 3704
TCGA: ENSG00000125877
COSMIC: ITPA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125877ENST00000380113Q9BY32
ENSG00000125877ENST00000380113A0A0S2Z3W7
ENSG00000125877ENST00000399838Q9BY32
ENSG00000125877ENST00000399838A0A0S2Z423
ENSG00000125877ENST00000455664Q9BY32

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Drug metabolism - other enzymesKEGGko00983
Purine metabolismKEGGhsa00230
Drug metabolism - other enzymesKEGGhsa00983
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164749390peginterferon alfa-2aChemicalClinicalAnnotationassociatedPD25713999
PA164783990interferon alfa-2b, recombinantChemicalClinicalAnnotationassociatedPD21503919
PA164784024peginterferon alfa-2bChemicalClinicalAnnotationassociatedPD20173735, 20547162, 20637204, 21246582, 21274861, 21503919, 23707372, 23730840, 26071337, 26438033, 26441325, 26670100, 26916827, 27833958
PA443434Arthritis, RheumatoidDiseaseClinicalAnnotationassociatedPD16947783, 19858780, 27217051, 29520081
PA444445Hepatitis CDiseaseClinicalAnnotationassociatedPD25713999
PA444773LeukopeniaDiseaseClinicalAnnotationassociatedPD26237184
PA444822Lupus Erythematosus, SystemicDiseaseClinicalAnnotationassociatedPD19129747
PA445113NeutropeniaDiseaseClinicalAnnotationassociatedPD26237184
PA446116Inflammatory Bowel DiseasesDiseaseClinicalAnnotationassociatedPKPD15973722, 16431304, 18616518, 18662289, 21961091, 26674571
PA446155Precursor Cell Lymphoblastic Leukemia-LymphomaDiseaseClinicalAnnotationassociatedPKPD15973722, 16431304, 16947783, 18616518, 18662289, 18685564, 19858780, 21395650, 26237184, 26674571, 27217051, 29520081
PA446863Hepatitis C, ChronicDiseaseClinicalAnnotationassociatedPD20173735, 20547162, 20637204, 21246582, 21274861, 21503919, 23707372, 23730840, 26071337, 26438033, 26441325, 26670100, 26916827, 27833958
PA448515azathioprineChemicalClinicalAnnotationassociatedPKPD15973722, 16431304, 18616518, 18662289, 19129747, 21961091, 26674571
PA450379mercaptopurineChemicalClinicalAnnotationassociatedPKPD18685564, 21395650, 26237184
PA450428methotrexateChemicalClinicalAnnotationassociatedPD16947783, 19858780, 26237184, 27217051, 29520081
PA451241ribavirinChemicalClinicalAnnotationassociatedPD20173735, 20547162, 20637204, 21246582, 21274861, 21503919, 23707372, 23730840, 25713999, 26071337, 26438033, 26441325, 26670100, 26916827, 27833958
PA452634purine analoguesChemicalClinicalAnnotationassociatedPD19129747

References

Pubmed IDYearTitleCitations
201737352010ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C.127
205471622010Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia and decrease the need for ribavirin dose reduction.56
186855642009Genetic polymorphism of inosine triphosphate pyrophosphatase is a determinant of mercaptopurine metabolism and toxicity during treatment for acute lymphoblastic leukemia.54
186855642009Genetic polymorphism of inosine triphosphate pyrophosphatase is a determinant of mercaptopurine metabolism and toxicity during treatment for acute lymphoblastic leukemia.54
175307052007A clinical pharmacogenetic model to predict the efficacy of methotrexate monotherapy in recent-onset rheumatoid arthritis.47
151677062004Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase).45
206372042010ITPA polymorphism affects ribavirin-induced anemia and outcomes of therapy--a genome-wide study of Japanese HCV virus patients.36
164313042006Inosine triphosphate pyrophosphatase and thiopurine s-methyltransferase genotypes relationship to azathioprine-induced myelosuppression.30
169477832006Relationship between genetic variants in the adenosine pathway and outcome of methotrexate treatment in patients with recent-onset rheumatoid arthritis.27
199566352009Fulfilling the promise of personalized medicine? Systematic review and field synopsis of pharmacogenetic studies.27

Citation

Dessen P

ITPA (inosine triphosphatase)

Atlas Genet Cytogenet Oncol Haematol. 2009-03-01

Online version: http://atlasgeneticsoncology.org/gene/50717/itpa