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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:
  • APS1,
  • APECED,
  • uc002zei.4,
  • APECED,
  • autoimmune polyendocrinopathy candidiasis ectodermal dystrophy,
  • APS1,
  • AIRE1,
  • AIRE,
  • PGA1,
  • NM_000383,
  • HGNC:360,
  • PGA1,
  • OTTHUMG00000086921,
  • APSI,
  • autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy),
  • AB006684
  • identifiers:
  • 326,
  • ENSG00000160224,
  • AIRE

Genome feature

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


Uni Prot Comments Displayer

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Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

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Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

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]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

53 SN Ps

5 Cross References

20 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results