Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3704
Gene name	Inosine triphosphatase
Gene symbol	ITPA
Synonyms (NCBI Gene)	C20orf37DEE35HLC14-06-PITPaseMy049NTPasedJ794I6.3
Chromosome	20
Chromosome location	20p13
Summary	This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein f

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1127354	C>A,G	Affects, drug-response	Missense variant, intron variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs7270101	A>C	Affects, drug-response	Intron variant
rs200086262	G>A	Pathogenic, uncertain-significance	Intron variant, stop gained, coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs376142053	G>A,C	Likely-pathogenic	Splice donor variant, intron variant
rs746930990	C>T	Pathogenic	Synonymous variant, missense variant, coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant
rs1227149616	C>T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs1380443187	G>A,C	Pathogenic	Intron variant, splice donor variant, genic downstream transcript variant
rs1381781375	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs1407446171	->TCAGCACC	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1408254396	T>C	Pathogenic	Splice donor variant, intron variant
rs1568509937	->G	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant, frameshift variant
rs1600509558	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant

Show/Hide all (74)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048752	hsa-miR-93-5p	CLASH	23622248
MIRT709595	hsa-miR-500b-3p	HITS-CLIP	19536157
MIRT709594	hsa-miR-3918	HITS-CLIP	19536157
MIRT709593	hsa-miR-4685-5p	HITS-CLIP	19536157
MIRT709592	hsa-miR-6837-5p	HITS-CLIP	19536157
MIRT709591	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT709590	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT709589	hsa-miR-370-3p	HITS-CLIP	19536157
MIRT709588	hsa-miR-6893-3p	HITS-CLIP	19536157
MIRT709587	hsa-miR-6784-3p	HITS-CLIP	19536157
MIRT709586	hsa-miR-6862-3p	HITS-CLIP	19536157
MIRT709585	hsa-miR-3692-5p	HITS-CLIP	19536157
MIRT709584	hsa-miR-3135b	HITS-CLIP	19536157
MIRT709583	hsa-miR-1287-5p	HITS-CLIP	19536157
MIRT709595	hsa-miR-500b-3p	HITS-CLIP	19536157
MIRT709594	hsa-miR-3918	HITS-CLIP	19536157
MIRT709593	hsa-miR-4685-5p	HITS-CLIP	19536157
MIRT709592	hsa-miR-6837-5p	HITS-CLIP	19536157
MIRT709591	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT709590	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT709589	hsa-miR-370-3p	HITS-CLIP	19536157
MIRT709588	hsa-miR-6893-3p	HITS-CLIP	19536157
MIRT709587	hsa-miR-6784-3p	HITS-CLIP	19536157
MIRT709586	hsa-miR-6862-3p	HITS-CLIP	19536157
MIRT709585	hsa-miR-3692-5p	HITS-CLIP	19536157
MIRT709584	hsa-miR-3135b	HITS-CLIP	19536157
MIRT709583	hsa-miR-1287-5p	HITS-CLIP	19536157
MIRT1074602	hsa-miR-2467-5p	CLIP-seq
MIRT1074603	hsa-miR-3188	CLIP-seq
MIRT1074604	hsa-miR-3975	CLIP-seq
MIRT1074605	hsa-miR-4316	CLIP-seq
MIRT1074606	hsa-miR-4710	CLIP-seq
MIRT1074607	hsa-miR-485-5p	CLIP-seq
MIRT1074608	hsa-miR-217	CLIP-seq
MIRT1074609	hsa-miR-3978	CLIP-seq
MIRT1074610	hsa-miR-4261	CLIP-seq
MIRT1074611	hsa-miR-4418	CLIP-seq
MIRT1074612	hsa-miR-4699-3p	CLIP-seq
MIRT1074613	hsa-miR-509-3-5p	CLIP-seq
MIRT1074614	hsa-miR-509-5p	CLIP-seq
MIRT2018415	hsa-miR-4286	CLIP-seq
MIRT2018416	hsa-miR-4326	CLIP-seq
MIRT2018417	hsa-miR-4691-5p	CLIP-seq
MIRT2553970	hsa-miR-1202	CLIP-seq
MIRT2553971	hsa-miR-1224-3p	CLIP-seq
MIRT2553972	hsa-miR-1260	CLIP-seq
MIRT2553973	hsa-miR-1260b	CLIP-seq
MIRT2553974	hsa-miR-1280	CLIP-seq
MIRT2553975	hsa-miR-185	CLIP-seq
MIRT2553976	hsa-miR-2278	CLIP-seq
MIRT2553977	hsa-miR-31	CLIP-seq
MIRT2553978	hsa-miR-3123	CLIP-seq
MIRT2553979	hsa-miR-3972	CLIP-seq
MIRT2553980	hsa-miR-4306	CLIP-seq
MIRT2553981	hsa-miR-4436a	CLIP-seq
MIRT2553982	hsa-miR-4436b-5p	CLIP-seq
MIRT2553983	hsa-miR-4467	CLIP-seq
MIRT2553984	hsa-miR-4519	CLIP-seq
MIRT2553985	hsa-miR-4644	CLIP-seq
MIRT2553986	hsa-miR-4650-5p	CLIP-seq
MIRT2553971	hsa-miR-1224-3p	CLIP-seq
MIRT2553972	hsa-miR-1260	CLIP-seq
MIRT2553973	hsa-miR-1260b	CLIP-seq
MIRT2553974	hsa-miR-1280	CLIP-seq
MIRT2553975	hsa-miR-185	CLIP-seq
MIRT2553976	hsa-miR-2278	CLIP-seq
MIRT2553977	hsa-miR-31	CLIP-seq
MIRT2553978	hsa-miR-3123	CLIP-seq
MIRT2553980	hsa-miR-4306	CLIP-seq
MIRT2553981	hsa-miR-4436a	CLIP-seq
MIRT2553983	hsa-miR-4467	CLIP-seq
MIRT2553984	hsa-miR-4519	CLIP-seq
MIRT2553985	hsa-miR-4644	CLIP-seq
MIRT2553986	hsa-miR-4650-5p	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006193	Process	ITP catabolic process	IEA
GO:0009117	Process	Nucleotide metabolic process	IEA
GO:0009143	Process	Nucleoside triphosphate catabolic process	IBA
GO:0009143	Process	Nucleoside triphosphate catabolic process	IEA
GO:0009204	Process	Deoxyribonucleoside triphosphate catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0035870	Function	DITP diphosphatase activity	IEA
GO:0036220	Function	ITP diphosphatase activity	IEA
GO:0036222	Function	XTP diphosphatase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183
GO:0046872	Function	Metal ion binding	IEA
GO:0047429	Function	Nucleoside triphosphate diphosphatase activity	IBA
GO:0047429	Function	Nucleoside triphosphate diphosphatase activity	IEA
GO:0051276	Process	Chromosome organization	IEA

MIM	HGNC	e!Ensembl
147520	6176	ENSG00000125877

Q9BY32

Protein name

Inosine triphosphate pyrophosphatase (ITPase) (Inosine triphosphatase) (EC 3.6.1.66) (Non-canonical purine NTP pyrophosphatase) (Non-standard purine NTP pyrophosphatase) (Nucleoside-triphosphate diphosphatase) (Nucleoside-triphosphate pyrophosphatase) (NT

Protein function

Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2'-deoxy-N-6-hydroxylaminopurine triphosphate (dHAPTP) and xanthosine 5'-triphosphate (XTP) to their res

PDB

2CAR , 2I5D , 2J4E , 4F95

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01725	Ham1p_like	10 → 188	Ham1 family	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Highly expressed in heart, liver, sex glands, thyroid and adrenal gland.

Sequence

MAASLVGKKIVFVTGNAKKLEEVVQILGDKFPCTLVAQKIDLPEYQGEPDEISIQKCQEA
VRQVQGPVLVEDTCLCFNALGGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTFAL
STGDPSQPVRLFRGRTSGRIVAPRGCQDFGWDPCFQPDGYEQTYAEMPKAEKNAVSHRFR
ALLELQEYFGSLAA

Sequence length

194

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Drug metabolism - other enzymes Metabolic pathways Nucleotide metabolism		Purine catabolism

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy, 35	Likely pathogenic; Pathogenic	rs2122396524, rs781254071, rs200086262, rs1407446171, rs2514425313, rs2514425248, rs2514489594, rs2067370892, rs376142053, rs1408254396, rs1600509558, rs2067217104	RCV005038177 RCV002250794 RCV000202318 RCV000202316 RCV003153202 RCV003333815 RCV004442865 RCV004595188 RCV005411569 RCV001824157 RCV000995786 RCV001250241	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypodontia	Likely pathogenic; Pathogenic	rs1407446171	RCV001526600	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infantile epileptic dyskinetic encephalopathy	Likely pathogenic; Pathogenic	rs2122346498	RCV003226498	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inosine triphosphatase deficiency	Likely pathogenic; Pathogenic	rs2122274245, rs370326110, rs2122396524, rs770956514, rs781254071, rs2122346498, rs2122328391, rs2514423744, rs2514458622, rs2514460185, rs200086262, rs1407446171, rs2514423508, rs2514437642, rs2514423602 View all (6 more)	RCV001377224 RCV001385594 RCV001381044 RCV001967002 RCV001977793 RCV001864846 RCV001983851 RCV002867400 RCV002958889 RCV002963272 RCV000640526 RCV001070704 RCV003038563 RCV003630262 RCV003628673 RCV003871549 RCV000554829 RCV000640518 RCV000704637 RCV000800468 RCV000991064 RCV001210109	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs781254071	RCV005925448	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC HEPATITIS C VIRUS INFECTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	ClinGen, Disgenet ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS C	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ITPA-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
peginterferon alfa-2b and ribavirin response - Toxicity	drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Anemia	Associate	21274861, 21628662, 22158703, 22406654, 22430973, 22585729, 23012624, 23139603, 23195617, 23538996, 23933495, 23960450, 24061202, 24760000, 25287171 View all (9 more)	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia Hemolytic	Associate	20547162, 21274861, 21703177, 22158703, 22406654, 22585729, 23933495, 26030972, 26154744, 26441325, 27833958, 28233743, 28723780, 29851985, 30045981	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthralgia	Associate	21961091	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Associate	25240429	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Associate	21703177	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Associate	32129147	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	27779101	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Associate	28099906	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chemical and Drug Induced Liver Injury	Associate	26644204	★★★★★ ★☆☆☆☆ Found in Text Mining only
DNA Virus Infections	Associate	22384212	★★★★★ ★☆☆☆☆ Found in Text Mining only
Drug Related Side Effects and Adverse Reactions	Associate	22384212, 23960450, 25120852, 26644204, 28128422, 30927276	★★★★★ ★☆☆☆☆ Found in Text Mining only
Drug Resistant Epilepsy	Associate	34989426	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Associate	31957018	★★★★★ ★☆☆☆☆ Found in Text Mining only
Farber Lipogranulomatosis	Associate	29660762	★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Neutropenia	Associate	18685564	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fever	Associate	28128422	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Associate	23133602	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Associate	25287171	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis Autoimmune	Associate	33846471	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Associate	23538996, 26110293, 26154744, 28233743, 28723780, 29660762	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatitis C Chronic	Associate	20547162, 23012624, 23538996, 23960450, 24760000, 26030972, 26110293, 26441325, 29660762, 32129147, 37904484	★★★★★ ★☆☆☆☆ Found in Text Mining only
HIV Infections	Associate	22272297	★★★★★ ★☆☆☆☆ Found in Text Mining only
HIV Seropositivity	Associate	22272297	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Associate	20547162, 21703177, 22158703, 23960450	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Inhibit	23960450	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Associate	18662289, 21961091, 27307154, 36707393, 37454061	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inosine Triphosphatase Deficiency	Associate	20547162, 21274861, 22585729, 24760000, 26441325, 26650626	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leukopenia	Associate	26360046, 36707393, 37454061	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Associate	37904484	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Associate	32129147	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	22384212, 32129147	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Associate	22384212	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurologic Manifestations	Associate	26644204	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Associate	28128422, 30927276	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Associate	28099906	★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	23029095, 25303517	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Associate	31618474	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	35036435	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sveinsson Chorioretinal Atrophy	Associate	23960450	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Associate	18662289, 21703177, 27833958	★★★★★ ★☆☆☆☆ Found in Text Mining only

ITPA (inosine triphosphatase)