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Gene : AIRE Homo sapiens

Name  ? autoimmune regulator Cytological Location  21q22.3
Brief Description  autoimmune regulator
Description  This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]
  • synonyms:
  • autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy),
  • uc002zei.4,
  • AB006684,
  • AIRE,
  • PGA1,
  • APS1,
  • autoimmune polyendocrinopathy candidiasis ectodermal dystrophy,
  • AIRE1,
  • PGA1,
  • NM_000383,
  • OTTHUMG00000086921,
  • APS1,
  • HGNC:360,
  • APSI
  • identifiers:
  • 326,
  • ENSG00000160224,
  • AIRE

Genome feature

Region: gene ? Length: 12773  
Location: 21:44285876-44298648 Cyto location: 21q22.3

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer


Gene Ontology Displayer

0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


Homologue Displayer


Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



0 Pathways

53 SNPs

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results