| 1311139 | Aire | autoimmune regulator | ENCODES a protein that exhibits chromatin binding (ortholog); histone binding (ortholog); identical protein binding (ortholog); INVOLVED IN central tolerance induction to self antigen (ortholog); humoral immune response (ortholog); negative thymic T cell selection (ortholog); PARTICIPATES IN primary immunodeficiency pathway; ubiquitin/proteasome degradation pathway; ASSOCIATED WITH abnormal NK cell number; abnormal thymus morphology; alopecia; ASSOCIATED WITH autoimmune polyendocrine syndrome; autoimmune polyendocrine syndrome type 1 (ortholog); candidiasis (ortholog); FOUND IN cytoplasm (ortholog); nuclear body (ortholog); nucleus (ortholog); INTERACTS WITH acrylamide; bisphenol A; cadmium dichloride | 20 | 10635775 | 10650709 | Rat | 129 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 1322440 | AIRE | autoimmune regulator | 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] | 21 | 44285876 | 44298648 | Human | 327 | symbol , COSMIC , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1322441 | Aire | autoimmune regulator | Enables identical protein binding activity. Involved in immune system development; positive regulation of chemokine production; and regulation of thymocyte migration. Acts upstream of or within humoral immune response; negative thymic T cell selection; and positive regulation of transcription by RNA polymerase II. Located in cytoplasm; germ cell nucleus; and nuclear body. Is expressed in several structures, including alimentary system; genitourinary system; hemolymphoid system; nervous system; and sensory organ. Used to study Guillain-Barre syndrome; Sjogren's syndrome; and autoimmune polyendocrine syndrome type 1. Human ortholog(s) of this gene implicated in autoimmune polyendocrine syndrome and autoimmune polyendocrine syndrome type 1. Orthologous to human AIRE (autoimmune regulator). [provided by Alliance of Genome Resources, Jul 2025] | 10 | 77865856 | 77879444 | Mouse | 240 | symbol , old_gene_name , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 9032764 | Aire | autoimmune regulator | ENCODES a protein that exhibits chromatin binding (ortholog); histone binding (ortholog); identical protein binding (ortholog); INVOLVED IN central tolerance induction to self antigen (ortholog); humoral immune response (ortholog); negative thymic T cell selection (ortholog); ASSOCIATED WITH autoimm une polyendocrine syndrome (ortholog); autoimmune polyendocrine syndrome type 1 (ortholog); candidiasis (ortholog); FOUND IN cytoplasm (ortholog); nuclear body (ortholog); nucleus (ortholog) | NW_004955407 | 41157503 | 41165032 | Chinchilla | 37 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11699221 | AIRE | autoimmune regulator | ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); DNA-binding transcription factor activity, RNA polymerase II-specific (inferred); INVOLVED IN humoral immune response (ortholog); negative thymic T cell selection (ortholog); positive regulation of transcription by RNA polymerase II (ortholog); ASSOCIATED WITH autoimmune polyendocrine syndrome (ortholog); autoimmune polyendocrine syndrome type 1 (ortholog); candidiasis (ortholog); FOUND IN cytoplasm (inferred); nuclear body (inferred); nucleus (inferred) | 21 | 30543018 | 30556225 | Bonobo | 55 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12213909 | AIRE | autoimmune regulator | ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); histone binding (inferred); INVOLVED IN humoral immune response (ortholog); negative thymic T cell selection (ortholog); positive regulation of transcription by RNA polymerase II (ortholog); ASSOCIATED WITH autoimm une polyendocrine syndrome (ortholog); autoimmune polyendocrine syndrome type 1 (ortholog); candidiasis (ortholog); FOUND IN cytoplasm (inferred); nuclear body (inferred); nucleus (inferred) | 31 | 38139513 | 38149294 | Dog | 63 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12660872 | Aire | autoimmune regulator | ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); DNA-binding transcription factor activity, RNA polymerase II-specific (inferred); INVOLVED IN humoral immune response (ortholog); negative thymic T cell selection (ortholog); positive regulation of transcription by RNA polymerase II (ortholog); ASSOCIATED WITH autoimmune polyendocrine syndrome (ortholog); autoimmune polyendocrine syndrome type 1 (ortholog); candidiasis (ortholog); FOUND IN cytoplasm (inferred); nuclear body (inferred); nucleus (inferred) | NW_004936500 | 125589 | 137071 | Squirrel | 47 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 626099590 | Aire | autoimmune regulator | ENCODES a protein that exhibits chromatin binding (ortholog); histone binding (ortholog); identical protein binding (ortholog); INVOLVED IN central tolerance induction to self antigen (ortholog); humoral immune response (ortholog); negative thymic T cell selection (ortholog); ASSOCIATED WITH autoimm une polyendocrine syndrome (ortholog); autoimmune polyendocrine syndrome type 1 (ortholog); candidiasis (ortholog); FOUND IN cytoplasm (ortholog); nuclear body (ortholog); nucleus (ortholog) | | | | Black Rat | 37 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14262627 | AIRE | autoimmune regulator | ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); histone binding (inferred); INVOLVED IN humoral immune response (ortholog); negative thymic T cell selection (ortholog); positive regulation of transcription by RNA polymerase II (ortholog); ASSOCIATED WITH autoimm une polyendocrine syndrome (ortholog); autoimmune polyendocrine syndrome type 1 (ortholog); candidiasis (ortholog); FOUND IN cytoplasm (inferred); nuclear body (inferred); nucleus (inferred) | | | | Pig | 63 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18900464 | Aire | autoimmune regulator | ENCODES a protein that exhibits chromatin binding (ortholog); histone binding (ortholog); RNA polymerase II transcription regulatory region sequence-specific DNA binding (ortholog); INVOLVED IN central tolerance induction to self antigen (ortholog); humoral immune response (ortholog); negative thymi c T cell selection (ortholog); ASSOCIATED WITH autoimmune polyendocrine syndrome (ortholog); autoimmune polyendocrine syndrome type 1 (ortholog); candidiasis (ortholog); FOUND IN nuclear body (ortholog) | | | | Naked Mole-Rat | 51 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18434515 | AIRE | autoimmune regulator | ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); DNA-binding transcription factor activity, RNA polymerase II-specific (inferred); INVOLVED IN humoral immune response (ortholog); negative thymic T cell selection (ortholog); positive regulation of transcription by RNA polymerase II (ortholog); ASSOCIATED WITH autoimmune polyendocrine syndrome (ortholog); autoimmune polyendocrine syndrome type 1 (ortholog); candidiasis (ortholog); FOUND IN cytoplasm (inferred); nuclear body (inferred); nucleus (inferred) | | | | Green Monkey | 55 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 329329295 | aire | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 329329296 | aire.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 38599148 | Aireem1Ang | autoimmune regulator; ZFN induced mutant1, Ang | ASSOCIATED WITH abnormal NK cell number; abnormal thymus morphology; alopecia; ASSOCIATED WITH autoimmune polyendocrine syndrome | | | | Rat | 10 | symbol , description | gene, allele |