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Itpr2 Gene Detail
Summary
  • Symbol
    Itpr2
  • Name
    inositol 1,4,5-triphosphate receptor 2
  • Synonyms
    Ip3r2, Itpr5
  • Feature Type
    protein coding gene
  • IDs
    MGI:99418
    NCBI Gene: 16439
  • Gene Overview
    MyGene.info: ITPR2
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr6:146108299-146502223 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      393925 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 77.70 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    ITPR2, inositol 1,4,5-trisphosphate receptor type 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ITPR2, inositol 1,4,5-trisphosphate receptor type 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ANHD, CFAP48, INSP3R2, IP3R2
  • Links
    NCBI Gene ID: 3709
    neXtProt AC: NX_Q14571
    UniProt: Q14571

  • Chr Location
    12p11.23; chr12:26335337-26833198 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Itpr2 mouse models; 1 with human ITPR2 associations

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    4 phenotypes from 2 alleles in 3 genetic backgrounds
    14 phenotypes from multigenic genotypes
    57 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes for a knock-out allele are viable and fertile but show decreased sweating and disturbed calcium signaling in sweat glands. Mice homozygous for a different knock-out allele have atrial myocytes that are significantly less prone to develop proarrhythmic disturbances in calcium signaling.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000025625 VEGA Gene Model | MGI Sequence Detail 393925 C57BL/6J ±  kb
    transcript OTTMUST00000063040 VEGA | MGI Sequence Detail 8331 Not Applicable  
    polypeptide OTTMUSP00000031145 VEGA | MGI Sequence Detail 2701 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      4930 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 86
      cDNA 86

      Microarray probesets 11
    Other
    Accession IDs
    less
    MGD-MRK-11439, MGD-MRK-16180, MGD-MRK-18668, MGI:101846, MGI:2141462
    References
    more
    • Summaries
      All 118
      Developmental Gene Expression 11
      Diseases 1
      Gene Ontology 13
      Phenotypes 57
    • Earliest
      J:2208 Ross CA, et al., Three additional inositol 1,4,5-trisphosphate receptors: molecular cloning and differential localization in brain and peripheral tissues. Proc Natl Acad Sci U S A. 1992 May 15;89(10):4265-9
    • Latest
      J:256835 Covelo A, et al., Neuronal activity determines distinct gliotransmitter release from a single astrocyte. Elife. 2018 Jan 30;7

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    09/18/2018
    MGI 6.12
    The Jackson Laboratory