ITPA (inosine triphosphatase)

2009-03-01  

Identity

HGNC
ITPA
LOCATION
20p13
LOCUSID
3704
ALIAS
C20orf37,DEE35,HLC14-06-P,ITPase,My049,NTPase,dJ794I6.3
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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
367073932024ITPA polymorphisms do not predict additional risk beyond TPMT and NUDT15 for thiopurine-induced cytopenia in inflammatory bowel disease.2
380973962024Association of ITPA 94C>A genetic polymorphisms with azathioprine induced adverse effects in the South Indian population.0
389068642024Predictive role of ITPA genetic variants in thiopurine-related myelotoxicity in Crohn's disease patients.0
367073932024ITPA polymorphisms do not predict additional risk beyond TPMT and NUDT15 for thiopurine-induced cytopenia in inflammatory bowel disease.2
380973962024Association of ITPA 94C>A genetic polymorphisms with azathioprine induced adverse effects in the South Indian population.0
389068642024Predictive role of ITPA genetic variants in thiopurine-related myelotoxicity in Crohn's disease patients.0
376983992023Investigation of the Association Between ITPA Gene 94C>A Sequence Variant and Kidney Transplant Rejection in Iranian Kidney Transplant Recipients.0
376983992023Investigation of the Association Between ITPA Gene 94C>A Sequence Variant and Kidney Transplant Rejection in Iranian Kidney Transplant Recipients.0
349894262022Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.6
350349632022Association of ITPA gene polymorphisms with adverse effects of AZA/6-MP administration: a systematic review and meta-analysis.5
350676672022Inosine Triphosphate Pyrophosphatase and NUDT15 are Good Predictors of Clinical Outcomes in Thiopurine-Treated Chinese Patients with Inflammatory Bowel Disease.3
350985212022Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature.2
351591942022Inosine Triphosphate Pyrophosphatase (ITPase): Functions, Mutations, Polymorphisms and Its Impact on Cancer Therapies.2
367180082022Investigation of the Association Between the ITPA Gene 94C>A Gene Sequence Variant and Liver Transplant Rejection in Iranian Liver Transplant Recipients.0
349894262022Clinico-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/img/cancer-prone-explorer/