Identity
HGNC
LOCATION
20p13
LOCUSID
ALIAS
C20orf37,DEE35,HLC14-06-P,ITPase,My049,NTPase,dJ794I6.3
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3704
MIM: 147520
HGNC: 6176
Ensembl: ENSG00000125877
Variants:
dbSNP: 3704
ClinVar: 3704
TCGA: ENSG00000125877
COSMIC: ITPA
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA164749390 | peginterferon alfa-2a | Chemical | ClinicalAnnotation | associated | PD | 25713999 | |
| PA164783990 | interferon alfa-2b, recombinant | Chemical | ClinicalAnnotation | associated | PD | 21503919 | |
| PA164784024 | peginterferon alfa-2b | Chemical | ClinicalAnnotation | associated | PD | 20173735, 20547162, 20637204, 21246582, 21274861, 21503919, 23707372, 23730840, 26071337, 26438033, 26441325, 26670100, 26916827, 27833958 | |
| PA443434 | Arthritis, Rheumatoid | Disease | ClinicalAnnotation | associated | PD | 16947783, 19858780, 27217051, 29520081 | |
| PA444445 | Hepatitis C | Disease | ClinicalAnnotation | associated | PD | 25713999 | |
| PA444773 | Leukopenia | Disease | ClinicalAnnotation | associated | PD | 26237184 | |
| PA444822 | Lupus Erythematosus, Systemic | Disease | ClinicalAnnotation | associated | PD | 19129747 | |
| PA445113 | Neutropenia | Disease | ClinicalAnnotation | associated | PD | 26237184 | |
| PA446116 | Inflammatory Bowel Diseases | Disease | ClinicalAnnotation | associated | PK | PD | 15973722, 16431304, 18616518, 18662289, 21961091, 26674571 |
| PA446155 | Precursor Cell Lymphoblastic Leukemia-Lymphoma | Disease | ClinicalAnnotation | associated | PK | PD | 15973722, 16431304, 16947783, 18616518, 18662289, 18685564, 19858780, 21395650, 26237184, 26674571, 27217051, 29520081 |
| PA446863 | Hepatitis C, Chronic | Disease | ClinicalAnnotation | associated | PD | 20173735, 20547162, 20637204, 21246582, 21274861, 21503919, 23707372, 23730840, 26071337, 26438033, 26441325, 26670100, 26916827, 27833958 | |
| PA448515 | azathioprine | Chemical | ClinicalAnnotation | associated | PK | PD | 15973722, 16431304, 18616518, 18662289, 19129747, 21961091, 26674571 |
| PA450379 | mercaptopurine | Chemical | ClinicalAnnotation | associated | PK | PD | 18685564, 21395650, 26237184 |
| PA450428 | methotrexate | Chemical | ClinicalAnnotation | associated | PD | 16947783, 19858780, 26237184, 27217051, 29520081 | |
| PA451241 | ribavirin | Chemical | ClinicalAnnotation | associated | PD | 20173735, 20547162, 20637204, 21246582, 21274861, 21503919, 23707372, 23730840, 25713999, 26071337, 26438033, 26441325, 26670100, 26916827, 27833958 | |
| PA452634 | purine analogues | Chemical | ClinicalAnnotation | associated | PD | 19129747 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36707393 | 2024 | ITPA polymorphisms do not predict additional risk beyond TPMT and NUDT15 for thiopurine-induced cytopenia in inflammatory bowel disease. | 2 |
| 38097396 | 2024 | Association of ITPA 94C>A genetic polymorphisms with azathioprine induced adverse effects in the South Indian population. | 0 |
| 38906864 | 2024 | Predictive role of ITPA genetic variants in thiopurine-related myelotoxicity in Crohn's disease patients. | 0 |
| 36707393 | 2024 | ITPA polymorphisms do not predict additional risk beyond TPMT and NUDT15 for thiopurine-induced cytopenia in inflammatory bowel disease. | 2 |
| 38097396 | 2024 | Association of ITPA 94C>A genetic polymorphisms with azathioprine induced adverse effects in the South Indian population. | 0 |
| 38906864 | 2024 | Predictive role of ITPA genetic variants in thiopurine-related myelotoxicity in Crohn's disease patients. | 0 |
| 37698399 | 2023 | Investigation of the Association Between ITPA Gene 94C>A Sequence Variant and Kidney Transplant Rejection in Iranian Kidney Transplant Recipients. | 0 |
| 37698399 | 2023 | Investigation of the Association Between ITPA Gene 94C>A Sequence Variant and Kidney Transplant Rejection in Iranian Kidney Transplant Recipients. | 0 |
| 34989426 | 2022 | Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. | 6 |
| 35034963 | 2022 | Association of ITPA gene polymorphisms with adverse effects of AZA/6-MP administration: a systematic review and meta-analysis. | 5 |
| 35067667 | 2022 | Inosine Triphosphate Pyrophosphatase and NUDT15 are Good Predictors of Clinical Outcomes in Thiopurine-Treated Chinese Patients with Inflammatory Bowel Disease. | 3 |
| 35098521 | 2022 | Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature. | 2 |
| 35159194 | 2022 | Inosine Triphosphate Pyrophosphatase (ITPase): Functions, Mutations, Polymorphisms and Its Impact on Cancer Therapies. | 2 |
| 36718008 | 2022 | Investigation of the Association Between the ITPA Gene 94C>A Gene Sequence Variant and Liver Transplant Rejection in Iranian Liver Transplant Recipients. | 0 |
| 34989426 | 2022 | Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. | 6 |
Citation
Dessen P
ITPA (inosine triphosphatase)
Atlas Genet Cytogenet Oncol Haematol. 2009-03-01
Online version: http://atlasgeneticsoncology.org/gene/50717/itpa
