Gene table of ITPA : inosine triphosphatase

Gene-disease associations table

Disease IDDisease nameSource of annotation with ITPAOMIM linkNumber of associated genesgenes
613850INOSINE TRIPHOSPHATASE DEFICIENCYClinVar, OMIM, HUMSAVAR link to OMIM 1ITPA
PS308350EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILEClinVar, OMIM link to OMIM 37KCNT1, EEF1A2, SZT2, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, GRIN2B, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, PNKP, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, CDKL5, GABRA1, SLC12A5, DOCK7, ARX, SCN8A, NECAP1, PIGA

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Annotation of the gene ITPA

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Drug metabolism - other enzymeshsa009837.21
Metabolic pathwayshsa011002.49
Pyrimidine metabolismhsa002406.01
Purine metabolismhsa002305.28
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Metabolism of nucleotidesR-HSA-158696.7
MetabolismR-HSA-14307282.34
Associated GO terms for Molecular function
GO termGO IDGO IC
hydrolase activityGO:00167871.9
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydridesGO:00168183.03
metal ion bindingGO:00468721.41
catalytic activityGO:00038241.05
nucleotide bindingGO:00001661.96
organic cyclic compound bindingGO:00971591.05
ITP diphosphatase activityGO:00362209.74
hydrolase activity, acting on acid anhydridesGO:00168173.03
dITP diphosphatase activityGO:00358709.05
small molecule bindingGO:00360941.89
pyrophosphatase activityGO:00164623.04
cation bindingGO:00431691.4
bindingGO:00054880.18
XTP diphosphatase activityGO:00362229.74
nucleoside-triphosphate diphosphatase activityGO:00474297.66
ion bindingGO:00431671.36
heterocyclic compound bindingGO:19013631.06
nucleoside phosphate bindingGO:19012651.96