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Itpr3 Gene Detail
Summary
  • Symbol
    Itpr3
  • Name
    inositol 1,4,5-triphosphate receptor 3
  • Synonyms
    Ip3r3, Itpr-3, tf
  • Feature Type
    protein coding gene
  • IDs
    MGI:96624
    NCBI Gene: 16440
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:27276278-27341197 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 13.68 cM
  • Mapping Data
    64 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1765 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96624
 protein coding gene Chr17:27275976-27341197 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023416
 protein coding gene Chr17:26305425-26372717 (+)
A/J MGP_AJ_G0023373
 protein coding gene Chr17:25494083-25566820 (+)
AKR/J MGP_AKRJ_G0023339
 protein coding gene Chr17:25630176-25706573 (+)
BALB/cJ MGP_BALBcJ_G0023378
 protein coding gene Chr17:25742591-25809740 (+)
C3H/HeJ MGP_C3HHeJ_G0023139
 protein coding gene Chr17:26010751-26080956 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023821
 protein coding gene Chr17:27417370-27490358 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021295
 protein coding gene Chr17:22906092-22970034 (+)
CAST/EiJ MGP_CASTEiJ_G0022640
 protein coding gene Chr17:25938888-26010439 (+)
CBA/J MGP_CBAJ_G0023113
 protein coding gene Chr17:28361933-28443971 (+)
DBA/2J MGP_DBA2J_G0023245
 protein coding gene Chr17:25058632-25128963 (+)
FVB/NJ MGP_FVBNJ_G0023214
 protein coding gene Chr17:24839945-24907404 (+)
LP/J MGP_LPJ_G0023322
 protein coding gene Chr17:26550551-26621024 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023232
 protein coding gene Chr17:27886303-27958886 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023862
 protein coding gene Chr17:26009128-26080939 (+)
PWK/PhJ MGP_PWKPhJ_G0022390
 protein coding gene Chr17:23855557-23922732 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022208
 protein coding gene Chr17:24040987-24125215 (+)
WSB/EiJ MGP_WSBEiJ_G0022703
 protein coding gene Chr17:26034323-26107648 (+)



Homology
more
  • Human Ortholog
    ITPR3, inositol 1,4,5-trisphosphate receptor type 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ITPR3, inositol 1,4,5-trisphosphate receptor type 3
  • Synonyms
    CMT1J, IP3R, IP3R-3, IP3R3
  • Links
    NCBI Gene ID: 3710
    neXtProt AC: NX_Q14573
    UniProt: Q14573

  • Chr Location
    6p21.31; chr6:33620365-33696574 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Itpr3 mouse models; 2 with human ITPR3 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    28 phenotypes from 6 alleles in 7 genetic backgrounds
    28 phenotypes from multigenic genotypes
    1 images
    90 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 are viable and fertile and exhibit no apparent abnormalities in pancreatic and salivary secretion. However, one mutation in this gene results in alternating abnormal hair loss and normal hair growth throughout the life of the mouse and low sweet preference.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    72
  • GO References
    22
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
    876
  • Tissues
    35
  • cDNA Data
    97
  • Literature Summary
    21
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000042644 Ensembl Gene Model | MGI Sequence Detail 64920 C57BL/6J ±  kb
    transcript ENSMUST00000049308 Ensembl | MGI Sequence Detail 8990 Not Applicable  
    polypeptide ENSMUSP00000038150 Ensembl | MGI Sequence Detail 2670 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 99
      cDNA 97
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-11440, MGD-MRK-11507, MGD-MRK-11509, MGD-MRK-15043, MGI:98711
    References
    more
    • Summaries
      All 205
      Developmental Gene Expression 21
      Diseases 3
      Gene Ontology 22
      Phenotypes 90
    • Earliest
      J:273 Lyon MF, Hereditary hair loss in the tufted mutant of the house mouse. J Hered. 1956;47(2):101-3
    • Latest
      J:350715 Ascencio Gutierrez V, et al., TRPM4 and PLCbeta3 contribute to normal behavioral responses to an array of sweeteners and carbohydrates but PLCbeta3 is not needed for taste-driven licking for glucose. Chem Senses. 2024 Jan 1;49
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory