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Gene Detail
autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
Feature Type protein coding gene
Genetic Map
Chromosome 10
39.72 cM
Detailed Genetic Map ± 1 cM

Mapping data(7)
Sequence Map
Chr10:78030022-78043610 bp, - strand
From VEGA annotation of GRCm38

  13589 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
HomoloGene:327  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Gene Tree: Aire

Human Homolog AIRE, autoimmune regulator
NCBI Gene ID 326
neXtProt AC  NX_O43918
Human Synonyms  AIRE1, APECED, APS1, APSI, PGA1
Human Chr (Location)  21q22.3; chr21:44285838-44298219 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human AIRE
alleles, and
All mutations/alleles(25) : Gene trapped(10) Targeted(15)
Genomic Mutations involving Aire (3)
Incidental mutations (data from Mutagenetix , APF )
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.
Human Diseases Modeled Using Mouse Aire (3)    Alleles Annotated to Human Diseases(5)    Phenotype Images(1)
Aire interacts with 191 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
All GO classifications: (18 annotations)
Process humoral immune response, positive regulation of transcription, DNA-templated, ...
Component cytoplasm, intracellular, ...
Function chromatin binding, DNA binding, ...
External Resources: FuncBase
Literature Summary: (23 records)
Data Summary: Results (313)    Tissues (205)    Images (22)
Theiler Stages: 2, 3, 4, 5, 9, 10, 11, 12, 13, 15, 17, 20, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
Immunohistochemistry 3
RNA in situ 245
Northern blot 9
cDNA source data(12)
External Resources: Allen Institute   GEO   Expression Atlas
All nucleic(36) Genomic(13) cDNA(14) Primer pair(8) Other(1)
Microarray probesets(3)
Other database
VEGA Gene ModelOTTMUSG00000034126 (Evidence)
Ensembl Gene ModelENSMUSG00000000731 (Evidence)
Entrez Gene11634 (Evidence)
DFCITC1587974, TC1594826, TC1596130, TC1596530, TC1596589, TC1596652
DoTSDT.101310619, DT.110596681, DT.484103, DT.55263294, DT.87051928, DT.87051929
NIA Mouse Gene IndexU031966
Consensus CDS ProjectCCDS23961.1, CCDS70051.1, CCDS70052.1, CCDS70053.1, CCDS70054.1, CCDS70055.1, CCDS70056.1, CCDS70057.1, CCDS70058.1, CCDS70059.1, CCDS70060.1
International Mouse Knockout Project StatusAire
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 sequences
All sequences(134) RefSeq(27) UniProt(7)
Polymorphisms PCR(1) : SNPs within 2kb(139 from dbSNP Build 137)
InterPro IPR008087 Autoimmune regulator, AIRE
InterPro IPR000770 SAND domain
InterPro IPR010919 SAND domain-like
InterPro IPR004865 Sp100
InterPro IPR011011 Zinc finger, FYVE/PHD-type
InterPro IPR019787 Zinc finger, PHD-finger
InterPro IPR001965 Zinc finger, PHD-type
InterPro IPR019786 Zinc finger, PHD-type, conserved site
InterPro IPR013083 Zinc finger, RING/FYVE/PHD-type
InterPro IPR001841 Zinc finger, RING-type
Protein Ontology PR:000001323 autoimmune regulator
References (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:209922 Nishikawa Y, et al., Temporal lineage tracing of Aire-expressing cells reveals a requirement for Aire in their maturation program. J Immunol. 2014 Mar 15;192(6):2585-92
All references(150)
Disease annotation references (9)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 5.19
The Jackson Laboratory