AIRE Gene
Autoimmune Regulator
Gene Information Card
| Symbol | AIRE |
|---|---|
| Full Name | Autoimmune Regulator |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 326 ncbi.nlm.nih.gov/gene/326 |
| Ensembl ID | ENSG00000160224 |
| UniProt ID | O43918 |
| OMIM ID | 607358 |
| HGNC ID | 360 |
| Aliases | APECED, APS1, AIRE1 |
Description
The AIRE (Autoimmune Regulator) gene encodes a transcription factor that plays a critical role in establishing central immune tolerance by promoting the expression of tissue-specific antigens in medullary thymic epithelial cells (mTECs). This process facilitates the negative selection of self-reactive T cells, preventing autoimmunity. Mutations in AIRE cause autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyendocrine syndrome type 1 (APS1).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autoimmune Polyendocrine Syndrome Type 1 (APECED/APS1) | Loss-of-function mutations in AIRE impair thymic expression of tissue-specific antigens, leading to failure of negative selection and subsequent autoimmune attack on multiple endocrine organs. | OMIM #240300; ClinVar |
| Autoimmune Hepatitis | AIRE deficiency can lead to liver-specific autoimmunity due to inadequate presentation of liver antigens in the thymus. | NCBI Gene; OMIM |
| Vitiligo | AIRE mutations are associated with melanocyte-specific autoimmunity, contributing to vitiligo in APECED patients. | OMIM; ClinVar |
| Alopecia Areata | Hair follicle autoimmunity is a common feature in APECED due to AIRE dysfunction. | OMIM; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thymus | 0.0 | Not detected (nTPM data not available; AIRE is expressed in a subset of mTECs) |
| Lymph Node | 0.0 | Not detected |
| Spleen | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Medullary Thymic Epithelial Cells (mTECs) | N/A | Primary site of AIRE expression; critical for immune tolerance |
| Thymic Dendritic Cells | N/A | Low expression; cross-presentation of AIRE-induced antigens |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.769C>T (p.Arg257Ter) | Nonsense | Common in APECED | Loss of function; truncated protein |
| c.967_979del (p.Tyr323CysfsTer51) | Frameshift deletion | Frequent in Finnish population | Loss of function; premature termination |
| c.463+1G>A | Splice site | Reported | Loss of function; aberrant splicing |
| c.1103G>A (p.Cys368Tyr) | Missense | Rare | Loss of function; impaired DNA binding |
Mutation functional classification
Loss of Function (LOF)
Most AIRE mutations are loss-of-function, leading to reduced or absent protein activity, impaired thymic antigen expression, and autoimmunity.
Gain of Function (GOF)
Not reported for AIRE.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with wild-type AIRE multimerization, though recessive inheritance is typical.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000978 | • GO:0000981 |
| • GO:0001227 | • GO:0003677 |
| • GO:0005515 | • GO:0005634 |
| • GO:0005654 | • GO:0006357 |
| • GO:0006355 | • GO:0006366 |
| • GO:0008134 | • GO:0010628 |
| • GO:0010629 | • GO:0030154 |
| • GO:0033077 | • GO:0042307 |
| • GO:0042802 | • GO:0045944 |
| • GO:0050852 | • GO:0065003 |
| • GO:0071353 | • GO:1902236 |
Pathways
• Thymic T cell selection
• Central tolerance induction by AIRE
Protein Summary
The AIRE protein (UniProt O43918) is a 545-amino acid transcription factor containing a caspase recruitment domain (CARD), a SAND domain, and two plant homeodomain (PHD) zinc fingers. It localizes to the nucleus and forms multimeric complexes to regulate gene expression. AIRE promotes the transcription of thousands of tissue-specific antigens in medullary thymic epithelial cells, enabling negative selection of autoreactive T cells. It also interacts with proteins involved in chromatin remodeling, RNA processing, and nuclear transport.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AIRE Knockout HEK293 Cell Line | EDJ-KQ2219 | Human | 326 | Details Get a Quote |
| AIRE Knockout HeLa Cell Line | EDJ-KQ52628 | Human | 326 | Details Get a Quote |
| AIRE Knockout A-549 Cell Line | EDJ-KQ61103 | Human | 326 | Details Get a Quote |
| AIRE Knockout HCT 116 Cell Line | EDJ-KQ69590 | Human | 326 | Details Get a Quote |
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