The AIRE gene homepage

General information
Gene symbol AIRE
Gene name autoimmune regulator
Chromosome 21
Chromosomal band q22.3
Imprinted Unknown
Genomic reference LRG_18
Transcript reference NM_000383.3
Associated with diseases Polyglandular autoimmune syndrome, type 1
Citation reference(s) -
Curators (1) Roberto Perniola
Total number of public variants reported 393
Unique public DNA variants reported 202
Individuals with public variants 331
Hidden variants 15
Date created May 03, 2013
Date last updated February 08, 2021
Version AIRE:210208

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 360
Entrez Gene 326
PubMed articles AIRE
OMIM - Gene 607358
OMIM - Diseases Polyglandular autoimmune syndrome, type 1
Orphanet AIRE

Active transcripts




NCBI ID     

NCBI Protein ID     

00002286 21 autoimmune regulator NM_000383.3 NP_000374.1 393

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