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Aire Gene Detail
Summary
  • Symbol
    Aire
  • Name
    autoimmune regulator
  • Feature Type
    protein coding gene
  • IDs
    MGI:1338803
    NCBI Gene: 11634
  • Alliance
    genome feature page
  • Transcription Start Sites
    6 TSS
  • Regulated by
    Rr40 (1 regulatory region)
Location &
Maps
more
  • Sequence Map
    Chr10:77865856-77879444 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 39.72 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    446 from dbSNP Build 142
  • Strain Annotations
    19
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1338803
 protein coding gene Chr10:77865856-77879444 (-)
129S1/SvImJ ENSMUSG00200041369
 protein coding gene Chr10:74543839-74557428 (-)
A/J ENSMUSG00195037357
 protein coding gene Chr10:74880593-74894180 (-)
AKR/J ENSMUSG00220044933
 protein coding gene Chr10:74540185-74553781 (-)
BALB/cJ ENSMUSG00180045102
 protein coding gene Chr10:74894956-74908547 (-)
C3H/HeJ ENSMUSG00175044678
 protein coding gene Chr10:74766095-74779678 (-)
C57BL/6NJ ENSMUSG00215048503
 protein coding gene Chr10:74503858-74517443 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015501
 protein coding gene Chr10:72071194-72085344 (-)
CAST/EiJ ENSTCUG00005051319
 protein coding gene Chr10:74380504-74394240 (-)
CBA/J ENSMUSG00210039546
 protein coding gene Chr10:74622227-74635814 (-)
DBA/2J ENSMUSG00185048068
 protein coding gene Chr10:74964566-74978155 (-)
FVB/NJ ENSMUSG00205043656
 protein coding gene Chr10:74656592-74670180 (-)
JF1/MsJ ENSUMUG00000054709
 protein coding gene Chr10:76124725-76138433 (-)
LP/J ENSMUSG00230048191
 protein coding gene Chr10:76734061-76747646 (-)
NOD/ShiLtJ ENSMUSG00190050138
 protein coding gene Chr10:74942029-74955614 (-)
NZO/HlLtJ ENSMUSG00225045829
 protein coding gene Chr10:81021848-81035427 (-)
PWK/PhJ ENSLUMG00010040861
 protein coding gene Chr10:74508436-74522165 (-)
SPRET/EiJ ENSMSPG00010045981
 protein coding gene Chr10:76289783-76303531 (-)
WSB/EiJ ENSIUOG00005049667
 protein coding gene Chr10:74538783-74552461 (-)



Homology
more
  • Human Ortholog
    AIRE, autoimmune regulator
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AIRE, autoimmune regulator
  • Synonyms
    AIRE1, APECED, APS1, APSI, PGA1
  • Links
    NCBI Gene ID: 326
    UniProt: O43918

  • Chr Location
    21q22.3; chr21:44285838-44298648 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with Aire mouse models; 2 with human AIRE associations

Human Disease Mouse Models
      
IDs
 View 9 models
      
IDs
 View 1 model
IDs
 View 3 models
      
IDs
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
less
  • Phenotype Summary
    86 phenotypes from 9 alleles in 20 genetic backgrounds
    14 phenotypes from multigenic genotypes
    1 images
    247 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
less
  • All GO Annotations
    63
  • GO References
    17
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
    947
  • Tissues
    208
  • cDNA Data
    12
  • Literature Summary
    41
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11634 NCBI Gene Model | MGI Sequence Detail 13589 C57BL/6J ±  kb
    transcript NR_073358 RefSeq | MGI Sequence Detail 2023 ZRU/MplStud  
    polypeptide Q9Z0E3 UniProt | EBI | MGI Sequence Detail 552 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 42
      Genomic 13
      cDNA 14
      Primer pair 12
      Other 3
      Antibodies 7

      Microarray probesets 3
    References
    more
    • Summaries
      All 348
      Developmental Gene Expression 41
      Diseases 8
      Gene Ontology 17
      Phenotypes 247
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:387467 Efraim Y, et al., Topical rewetting restores the autoimmune-damaged corneal stroma. iScience. 2026 Jun 19;29(6):116130
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory