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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
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
Homology
more
  • Human Ortholog
    AIRE, autoimmune regulator
  • Vertebrate Orthologs
    8
  • Human Ortholog
    AIRE, autoimmune regulator
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AIRE1, APECED, APS1, APSI, PGA1
  • Links
    NCBI Gene ID: 326
    neXtProt AC: NX_O43918

  • Chr Location
    21q22.3; chr21:44285838-44298219 (+)  GRCh38.p2

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

Human Disease Mouse Models
       Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia; APS1   OMIM: 240300 View 9 models
       Guillain-Barre Syndrome, Familial; GBS   OMIM: 139393 View 1 model
Sjogren Syndrome   OMIM: 270150 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    14 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    87 phenotypes from 8 alleles in 20 genetic backgrounds
    14 phenotypes from multigenic genotypes
    1 images
    109 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    27
  • Chemically induced (other)
    1
  • Gene trapped
    10
  • Targeted
    16
  • Genomic Mutations
    4 involving Aire
  • Incidental Mutations
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
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 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
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  • 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 160
    Developmental Gene Expression 25
    Diseases 14
    Gene Ontology 9
    Phenotypes 109
  • Earliest
    J:53032 Mittaz L, et al., Isolation and characterization of the mouse Aire gene. Biochem Biophys Res Commun. 1999 Feb 16;255(2):483-90
  • Latest
    J:228034 Takaba H, et al., Fezf2 Orchestrates a Thymic Program of Self-Antigen Expression for Immune Tolerance. Cell. 2015 Nov 5;163(4):975-87

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
05/17/2016
MGI 6.03
The Jackson Laboratory