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Insr Gene Detail
Summary
  • Symbol
    Insr
  • Name
    insulin receptor
  • Synonyms
    4932439J01Rik, CD220, D630014A15Rik, IR, IR-A, IR-B
  • Feature Type
    protein coding gene
  • IDs
    MGI:96575
    NCBI Gene: 16337
  • Gene Overview
    MyGene.info: INSR
Location & Maps
more
  • Sequence Map
    Chr8:3122061-3279617 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      157557 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 1.82 cM
  • Mapping Data
    11 experiments
Homology
more
  • Human Ortholog
    INSR, insulin receptor
  • Vertebrate Orthologs
    11
  • Human Ortholog
    INSR, insulin receptor
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CD220, HHF5
  • Links
    NCBI Gene ID: 3643
    neXtProt AC: NX_P06213

  • Chr Location
    19p13.3-p13.2; chr19:7112255-7294000 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Insr mouse models; 4 with human INSR associations

Human Disease Mouse Models
       Donohue Syndrome   OMIM: 246200 View 2 "NOT" models
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities   OMIM: 262190 View 1 "NOT" model
       Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans   OMIM: 610549
Hyperinsulinemic Hypoglycemia, Familial, 5; HHF5   OMIM: 609968
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    78 phenotypes from 7 alleles in 14 genetic backgrounds
    71 phenotypes from multigenic genotypes
    187 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
    17
  • Chemically induced (ENU)
    3
  • Gene trapped
    2
  • Targeted
    6
  • Transgenic
    6
  • Incidental Mutations
Null mutants grow slowly and die by 7 days of age with ketoacidosis, high serum insulin and triglycerides, low glycogen stores and fatty livers. Tissue specific knockouts show milder lipid metabolism anomalies. Point mutation heterozygotes exhibit hyperglycemia, hyperinsulinemia and glucosuria.
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 OTTMUSG00000031438 VEGA Gene Model | MGI Sequence Detail 157557 C57BL/6J ±  kb
transcript OTTMUST00000077897 VEGA | MGI Sequence Detail 9355 Not Applicable  
polypeptide OTTMUSP00000041297 VEGA | MGI Sequence Detail 1372 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    658 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 85
    Genomic 5
    cDNA 75
    Primer pair 3
    Other 2

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-11417, MGI:2442502, MGI:2443766
References
more
  • Summaries
    All 287
    Developmental Gene Expression 27
    Diseases 4
    Gene Ontology 25
    Phenotypes 187
  • Earliest
    J:9626 Wang LM, et al., Chromosome assignment of mouse insulin, colony stimulating factor 1, and low-density lipoprotein receptors. Genomics. 1988 Aug;3(2):172-6
  • Latest
    J:230924 Chen Q, et al., Insulin Is Required to Maintain Albumin Expression by Inhibiting Forkhead Box O1 Protein. J Biol Chem. 2016 Jan 29;291(5):2371-8

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory