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Itpa Gene Detail
Summary
  • Symbol
    Itpa
  • Name
    inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
  • Synonyms
    2010016I08Rik, Itp
  • Feature Type
    protein coding gene
  • IDs
    MGI:96622
    NCBI Gene: 16434
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:130509530-130523534 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 63.24 cM, cytoband F3
  • Mapping Data
    21 experiments
Strain
Comparison
more
  • SNPs within 2kb
    439 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96622
 protein coding gene Chr2:130506702-130523534 (+)
129S1/SvImJ MGP_129S1SvImJ_G0026514
 protein coding gene Chr2:134141493-134155520 (+)
A/J MGP_AJ_G0026478
 protein coding gene Chr2:128709093-128724058 (+)
AKR/J MGP_AKRJ_G0026453
 protein coding gene Chr2:132420883-132439512 (+)
BALB/cJ MGP_BALBcJ_G0026490
 protein coding gene Chr2:129062477-129076370 (+)
C3H/HeJ MGP_C3HHeJ_G0026233
 protein coding gene Chr2:132854772-132868734 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026935
 protein coding gene Chr2:138287396-138303595 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024312
 protein coding gene Chr2:123452562-123465378 (+)
CAST/EiJ MGP_CASTEiJ_G0025694
 protein coding gene Chr2:133115090-133130060 (+)
CBA/J MGP_CBAJ_G0026213
 protein coding gene Chr2:143405617-143419565 (+)
DBA/2J MGP_DBA2J_G0026347
 protein coding gene Chr2:128095244-128109068 (+)
FVB/NJ MGP_FVBNJ_G0026311
 protein coding gene Chr2:126728039-126741955 (+)
LP/J MGP_LPJ_G0026452
 protein coding gene Chr2:134379092-134397589 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026331
 protein coding gene Chr2:147245961-147261280 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026990
 protein coding gene Chr2:132376463-132390398 (+)
PWK/PhJ MGP_PWKPhJ_G0025430
 protein coding gene Chr2:127661088-127674958 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025232
 protein coding gene Chr2:131517230-131530502 (+)
WSB/EiJ MGP_WSBEiJ_G0025768
 protein coding gene Chr2:133303395-133320798 (+)



Homology
more
  • Human Ortholog
    ITPA, inosine triphosphatase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ITPA, inosine triphosphatase
  • Synonyms
    C20orf37, DEE35, dJ794I6.3, HLC14-06-P, ITPase, My049, NTPase
  • Links
    NCBI Gene ID: 3704
    neXtProt AC: NX_Q9BY32
    UniProt: Q9BY32

  • Chr Location
    20p13; chr20:3204065-3227449 (+)  GRCh38
Human Diseases
more
  • Diseases
    7 with human ITPA associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    23 phenotypes from 2 alleles in 2 genetic backgrounds
    17 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • GO References
    10
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    803
  • Tissues
    95
  • cDNA Data
    16
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000074797 Ensembl Gene Model | MGI Sequence Detail 14005 C57BL/6J ±  kb
    transcript ENSMUST00000103193 Ensembl | MGI Sequence Detail 1390 Not Applicable  
    polypeptide ENSMUSP00000099482 Ensembl | MGI Sequence Detail 198 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 16

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-11505, MGI:1914279, MGI:2139184
    References
    more
    • Summaries
      All 68
      Developmental Gene Expression 2
      Gene Ontology 10
      Phenotypes 17
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:299771 Koga Y, et al., Neural stem cell-specific ITPA deficiency causes neural depolarization and epilepsy. JCI Insight. 2020 Nov 19;5(22)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory