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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
  • Gene Overview
    MyGene.info: ITPR3
Location & Maps
more
  • Sequence Map
    Chr17:27057304-27122223 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      64920 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 13.68 cM
  • Mapping Data
    64 experiments
Homology
more
  • Human Ortholog
    ITPR3, inositol 1,4,5-trisphosphate receptor type 3
  • Vertebrate Orthologs
    8
  • Human Ortholog
    ITPR3, inositol 1,4,5-trisphosphate receptor type 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    IP3R, IP3R3
  • Links
    NCBI Gene ID: 3710
    neXtProt AC: NX_Q14573

  • Chr Location
    6p21.31; chr6:33621379-33696574 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Itpr3 mouse models; 1 with human ITPR3 associations

Human Disease Mouse Models
       Autism   OMIM: 209850 View 1 model
       Diabetes Mellitus, Insulin-Dependent; IDDM   OMIM: 222100
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    25 phenotypes from 5 alleles in 6 genetic backgrounds
    27 phenotypes from multigenic genotypes
    1 images
    60 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.
  • All Mutations and Alleles
    42
  • Gene trapped
    35
  • Radiation induced
    1
  • Spontaneous
    3
  • Targeted
    3
  • Genomic Mutations
    1 involving Itpr3
  • Incidental Mutations
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
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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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031360 VEGA Gene Model | MGI Sequence Detail 64920 C57BL/6J ±  kb
transcript OTTMUST00000077693 VEGA | MGI Sequence Detail 8990 Not Applicable  
polypeptide OTTMUSP00000041150 VEGA | MGI Sequence Detail 2670 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    596 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 97
    cDNA 96
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-11440, MGD-MRK-11507, MGD-MRK-11509, MGD-MRK-15043, MGI:98711
References
more
  • Summaries
    All 150
    Developmental Gene Expression 12
    Diseases 4
    Gene Ontology 17
    Phenotypes 60
  • Earliest
    J:273 Lyon MF, Hereditary hair loss in the tufted mutant of the house mouse. J Hered. 1956;47:101-3
  • Latest
    J:229572 De Felice A, et al., Prenatal exposure to a common organophosphate insecticide delays motor development in a mouse model of idiopathic autism. PLoS One. 2015;10(3):e0121663

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory