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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
  • Alliance
    gene page
  • Transcription Start Sites
    22 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:146009797-146403721 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 77.70 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    6517 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 Chr6:146009797-146403757 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ITPR2, inositol 1,4,5-trisphosphate receptor type 2
  • Synonyms
    ANHD, CFAP48, INSP3R2, IP3R2
  • Links
    NCBI Gene ID: 3709
    neXtProt AC: NX_Q14571
    UniProt: Q14571

  • Chr Location
    12p11.23; chr12:26335352-26833194 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Itpr2 mouse models; 2 with human ITPR2 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
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
    15 phenotypes from multigenic genotypes
    116 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.
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
    48
  • GO References
    17
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
    723
  • Tissues
    12
  • cDNA Data
    85
  • Literature Summary
    18
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000030287 Ensembl Gene Model | MGI Sequence Detail 393925 C57BL/6J ±  kb
    transcript ENSMUST00000053273 Ensembl | MGI Sequence Detail 8331 Not Applicable  
    polypeptide ENSMUSP00000049584 Ensembl | MGI Sequence Detail 2701 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 88
      cDNA 86
      Primer pair 2

      Microarray probesets 11
    Other
    Accession IDs
    less
    MGD-MRK-11439, MGD-MRK-16180, MGD-MRK-18668, MGI:101846, MGI:2141462
    References
    more
    • Summaries
      All 186
      Developmental Gene Expression 18
      Diseases 1
      Gene Ontology 17
      Phenotypes 116
    • 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:348963 Ahmadpour N, et al., Cortical astrocyte N-methyl-D-aspartate receptors influence whisker barrel activity and sensory discrimination in mice. Nat Commun. 2024 Feb 21;15(1):1571
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory