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Gene

AIRE

autoimmune regulator

Summary

Cytogenetic location
21q22.3
Coordinates
Chromosome 21: 44,285,876–44,298,648 (GRCh38)
Exons
14 exons across 12.8 kb
Protein
545 amino acids
Inheritance
Autosomal recessive
Also known as
PGA1, APS1
Previous symbols
APECED
MANE Select transcript
ENST00000291582.6NM_000383.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Autoimmune Disease

    • A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).

      • ClinGen rates the link definitive
      • 7 GenCC submitters rate it definitive or strong

  • Autoimmune Polyendocrine Syndrome Type 1 (APECED)

    • Autoimmune polyendocrine syndrome type 1Autosomal recessive

      Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), caused by AIRE variants; more common in Finnish, Sardinian and Iranian Jewish populations.

      • ClinGen rates the link definitive
      • 7 GenCC submitters rate it definitive or strong
      What knowing changes

      Early diagnosis allows monitoring for adrenal insufficiency and low calcium so that crises can be prevented.

  • Thyroid Cancer

    • Parathyroid Gland Disorder

      A disease involving the parathyroid gland.

      • ClinGen rates the link definitive
      • 7 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How AIRE is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 21, with a bracket where AIRE sits. AIRE and 30 genes near it on chromosome 21, from 43,792,262 to 44,792,261.Chromosome 2121q22.3p13p12p11.2p11.1q11.1q11.2q21.1q21.2q21.3q22.11q22.12q22.13q22.2q22.343.8 Mb44 Mb44.2 Mb44.4 Mb44.6 MbRRP1: 43,789,513–43,821,500, forward strandRRP1AGPAT3: 43,865,081–43,987,592, forward strandAGPAT3: 43,939,919–43,959,673, forward strandTRAPPC10: 44,012,280–44,106,553, forward strandTRAPPC10PWP2: 44,107,306–44,131,181, forward strandPWP2GATD3: 44,133,610–44,210,114, forward strandGATD3ICOSLG: 44,215,382–44,241,446, reverse strandICOSLGDNMT3L: 44,246,339–44,262,216, reverse strandDNMT3LAIRE: 44,285,876–44,298,648, forward strandAIREPFKL: 44,300,017–44,327,377, forward strandPFKLCFAP410: 44,328,943–44,339,427, reverse strandCFAP410TRPM2: 44,350,072–44,445,246, forward strandTRPM2LRRC3: 44,455,472–44,463,452, forward strandLRRC3TSPEAR: 44,497,893–44,712,286, reverse strandKRTAP10-1: 44,538,981–44,540,195, reverse strandKRTAP10-1KRTAP10-2: 44,550,357–44,551,505, reverse strandKRTAP10-2KRTAP10-3: 44,557,790–44,558,795, reverse strandKRTAP10-3KRTAP10-4: 44,573,729–44,575,371, forward strandKRTAP10-4KRTAP10-5: 44,579,455–44,580,604, reverse strandKRTAP10-6: 44,591,268–44,592,505, reverse strandKRTAP10-7: 44,600,597–44,602,174, forward strandKRTAP10-8: 44,612,079–44,612,954, forward strandKRTAP10-9: 44,627,093–44,628,378, forward strandKRTAP10-10: 44,637,356–44,638,455, forward strandKRTAP10-11: 44,646,414–44,647,650, forward strandKRTAP12-4: 44,654,213–44,654,659, reverse strandKRTAP12-4KRTAP12-3: 44,657,932–44,658,341, forward strandKRTAP12-2: 44,666,189–44,666,927, reverse strandKRTAP12-2KRTAP12-1: 44,681,576–44,682,163, reverse strandKRTAP10-12: 44,697,172–44,698,044, forward strandUBE2G2: 44,768,580–44,801,826, reverse strandUBE2G2Diagram of AIRE: 14 exons on the forward strand of chromosome 21Exon 1: 27 known disease-causing sitesExon 2: 27 known disease-causing sitesExon 3: 13 known disease-causing sitesExon 4: 11 known disease-causing sitesExon 5: 7 known disease-causing sitesExon 6: 14 known disease-causing sitesExon 7: 5 known disease-causing sitesExon 8: 14 known disease-causing sitesExon 9: 11 known disease-causing sitesExon 10: 22 known disease-causing sitesExon 11: 10 known disease-causing sitesExon 12: 8 known disease-causing sitesExon 13: 3 known disease-causing sitesExon 14: 4 known disease-causing sitesExon 1: 44,285,876–44,286,138, 263 basesExon 2: 44,286,557–44,286,731, 175 basesExon 3: 44,286,978–44,287,133, 156 basesExon 4: 44,287,517–44,287,591, 75 basesExon 5: 44,288,345–44,288,458, 114 basesExon 6: 44,289,657–44,289,802, 146 basesExon 7: 44,289,988–44,290,068, 81 basesExon 8: 44,291,095–44,291,210, 116 basesExon 9: 44,292,302–44,292,401, 100 basesExon 10: 44,292,993–44,293,175, 183 basesExon 11: 44,293,789–44,293,910, 122 basesExon 12: 44,294,401–44,294,503, 103 basesExon 13: 44,296,383–44,296,445, 63 basesExon 14: 44,297,656–44,298,648, 993 bases12345678910111213145′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.7 kb of the gene's 12.8 kb; 1,638 of those bases code for the protein.

How a genome test reads AIRE

205

positions in AIRE where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 12.8 kb of AIRE, introns included, not only the 2.7 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). AIRE gene: autoimmune regulator. Retrieved 16 October 2026, from https://dantelabs.com/genes/aire

Vancouver

Dante Labs. AIRE gene: autoimmune regulator [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/aire

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