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Aire Gene Detail
Summary
  • Symbol
    Aire
  • Name
    autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
  • Feature Type
    protein coding gene
  • IDs
    MGI:1338803
    NCBI Gene: 11634
  • Gene Overview
    MyGene.info: AIRE
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr10:78030022-78043610 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      13589 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 39.72 cM
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    AIRE, autoimmune regulator
  • Vertebrate Orthologs
    8
  • Human Ortholog
    AIRE, autoimmune regulator
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AIRE1, APECED, APS1, APSI, PGA1
  • Links
    NCBI Gene ID: 326
    neXtProt AC: NX_O43918
    UniProt: O43918

  • Chr Location
    21q22.3; chr21:44285838-44298219 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    3 with Aire mouse models; 1 with human AIRE associations

Human Disease Mouse Models
      
IDs
View 9 models
      
IDs
View 1 model
IDs
View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    84 phenotypes from 9 alleles in 20 genetic backgrounds
    14 phenotypes from multigenic genotypes
    1 images
    130 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.
Targeted mutations that inactivate the gene result in immune system dysfunction characterized by multiorgan lymphocytic infiltration and circulating autoantibodies. Whereas one line is fertile, another exhibits male and female sterility.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000034126 VEGA Gene Model | MGI Sequence Detail 13589 C57BL/6J ±  kb
    transcript OTTMUST00000086350 VEGA | MGI Sequence Detail 1938 Not Applicable  
    polypeptide OTTMUSP00000046748 VEGA | MGI Sequence Detail 552 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      133 from dbSNP Build 142
    • PCR
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 37
      Genomic 13
      cDNA 14
      Primer pair 9
      Other 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 210
      Developmental Gene Expression 28
      Diseases 8
      Gene Ontology 12
      Phenotypes 130
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:258429 Smith CJ, et al., IL-10 Paradoxically Promotes Autoimmune Neuropathy through S1PR1-Dependent CD4(+) T Cell Migration. J Immunol. 2018 Mar 1;200(5):1580-1592

    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
    06/12/2018
    MGI 6.12
    The Jackson Laboratory