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Gene : ITPA Homo sapiens

Name  ? inosine triphosphatase Cytological Location  20p13
Brief Description  inosine triphosphatase
Description  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 family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
  • synonyms:
  • ITPA,
  • NTPase,
  • dJ794I6.3,
  • My049,
  • HLC14-06-P,
  • HLC14-06-P,
  • nucleoside-triphosphate diphosphatase,
  • C20orf37,
  • HGNC:6176,
  • NM_033453,
  • uc002wid.4,
  • OTTHUMG00000031738,
  • C20orf37,
  • ITPase,
  • AF026816,
  • dJ794I6.3,
  • inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
  • identifiers:
  • 3704,
  • ENSG00000125877,
  • ITPA

Genome feature

Region: gene ? Length: 18774  
Location: 20:3208676-3227449 Cyto location: 20p13


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

3753 SN Ps

5 Cross References

20 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results