About   Help   FAQ
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
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:146108299-146502223 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 77.70 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4930 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99418
protein coding gene Chr6:146108299-146502223 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031485
protein coding gene Chr6:151101944-151515468 (-)
A/J MGP_AJ_G0031460
protein coding gene Chr6:145111572-145517622 (-)
AKR/J MGP_AKRJ_G0031388
protein coding gene Chr6:149423136-149834210 (-)
BALB/cJ MGP_BALBcJ_G0031468
protein coding gene Chr6:144863187-145257496 (-)
C3H/HeJ MGP_C3HHeJ_G0031189
protein coding gene Chr6:149476501-149897023 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031929
protein coding gene Chr6:155157408-155570635 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029053
protein coding gene Chr6:143842331-144236992 (-)
CAST/EiJ MGP_CASTEiJ_G0030557
protein coding gene Chr6:149113379-149530099 (-)
CBA/J MGP_CBAJ_G0031149
protein coding gene Chr6:161040371-161492721 (-)
DBA/2J MGP_DBA2J_G0031305
protein coding gene Chr6:143903838-144302383 (-)
FVB/NJ MGP_FVBNJ_G0031257
protein coding gene Chr6:142634214-143033234 (-)
LP/J MGP_LPJ_G0031390
protein coding gene Chr6:151202358-151610020 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031297
protein coding gene Chr6:164816865-165240737 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031962
protein coding gene Chr6:149260846-149667975 (-)
PWK/PhJ MGP_PWKPhJ_G0030284
protein coding gene Chr6:142410711-142808641 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030108
protein coding gene Chr6:147416485-147806385 (-)
WSB/EiJ MGP_WSBEiJ_G0030650
protein coding gene Chr6:149880454-150292849 (-)



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
less
  • 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
less
  • 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 population 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 16439 NCBI Gene Model | MGI Sequence Detail 393925 C57BL/6J ±  kb
    transcript NM_019923 RefSeq | MGI Sequence Detail 11839 C57BL/6  
    polypeptide Q9Z329 UniProt | EBI | MGI Sequence Detail 2701 Not Applicable  
    For the selected sequence
    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 14
      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
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory