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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3704
Gene name Gene Name - the full gene name approved by the HGNC.	Inosine triphosphatase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ITPA
Synonyms (NCBI Gene) Gene synonyms aliases	C20orf37, DEE35, HLC14-06-P, ITPase, My049, NTPase, dJ794I6.3
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DEE35
Chromosome Chromosome number	20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	20p13
Summary Summary of gene provided in NCBI Entrez Gene.	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(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006193	Process	ITP catabolic process	IEA
GO:0006195	Process	Purine nucleotide catabolic process	TAS
GO:0009143	Process	Nucleoside triphosphate catabolic process	IBA	21873635
GO:0009204	Process	Deoxyribonucleoside triphosphate catabolic process	IEA
GO:0035529	Function	NADH pyrophosphatase activity	IEA
GO:0035870	Function	DITP diphosphatase activity	IEA
GO:0036218	Function	DTTP diphosphatase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0046872	Function	Metal ion binding	IEA
GO:0047429	Function	Nucleoside-triphosphate diphosphatase activity	IBA	21873635
GO:0051276	Process	Chromosome organization	IEA

MIM	HGNC	e!Ensembl
147520	6176	ENSG00000125877

Protein

UniProt ID

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

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia, Anemia, Hemolytic, Anemia, Hemolytic, Acquired, Anemia, Microangiopathic	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)	20637204, 20547162
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Epileptic encephalopathy	Encephalopathies, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625 View all (860 more)	27604308, 26224535, 19498443
Inosine triphosphatase deficiency	Inosine Triphosphatase Deficiency	rs200086262, rs1407446171, rs1227149616, rs1381781375, rs1568509937, rs376142053, rs1408254396	12436200, 27604308, 12384777
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Developmental And Epileptic Encephalopathy	genetic developmental and epileptic encephalopathy			GenCC

Show/Hide Text Mining Associations (40)

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

ITPA (inosine triphosphatase)