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Protein Coding Gene : Itpa inosine triphosphatase (nucleoside triphosphate pyrophosphatase)

Primary Identifier  MGI:96622 Organism  mouse, laboratory
Chromosome  2 NCBI Gene Number  16434
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables dITP diphosphatase activity. Acts upstream of or within ITP catabolic process and chromosome organization. Predicted to be located in cytosol and nucleoplasm. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in several diseases, including anemia (multiple); developmental and epileptic encephalopathy 35; hepatitis C; rheumatoid arthritis; and thrombocytopenia. Orthologous to human ITPA (inosine triphosphatase).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial perinatal lethality and complete postnatal lethality with postnatal growth retardation, abnormal heart morphology and function, ataxia, and immature hair follicles. [provided by MGI curators]
  • synonyms:
  • MGD-MRK-11505,
  • AU020102,
  • Itpa,
  • MGI:1914279,
  • expressed sequence AU020102,
  • 2010016I08Rik,
  • inosine triphosphatase,
  • RIKEN cDNA 2010016I08 gene,
  • Itp,
  • inosine triphosphatase (nucleoside triphosphate pyrophosphatase),
  • MGI:2139184

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

6 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For