Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 326
MIM: 607358
HGNC: 360
Ensembl: ENSG00000160224
Variants:
dbSNP: 326
ClinVar: 326
TCGA: ENSG00000160224
COSMIC: AIRE
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000160224 | ENST00000291582 | O43918 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Ubiquitin mediated proteolysis | KEGG | ko04120 |
| Primary immunodeficiency | KEGG | ko05340 |
| Ubiquitin mediated proteolysis | KEGG | hsa04120 |
| Primary immunodeficiency | KEGG | hsa05340 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38030802 | 2024 | A novel missense mutation in the AIRE gene underlying autoimmune polyglandular syndrome type 1. | 0 |
| 38060995 | 2024 | AIRE is expressed in breast cancer TANs and TAMs to regulate the extrinsic apoptotic pathway and inflammation. | 0 |
| 38418155 | 2024 | Association Between AIRE Polymorphisms rs870881(C>T), rs1003854(T>C) and Rheumatoid Arthritis Risk: A Hungarian Case-control Study. | 1 |
| 38473903 | 2024 | Analysis of the AIRE Gene Promoter in Patients Affected by Autoimmune Polyendocrine Syndromes. | 0 |
| 38030802 | 2024 | A novel missense mutation in the AIRE gene underlying autoimmune polyglandular syndrome type 1. | 0 |
| 38060995 | 2024 | AIRE is expressed in breast cancer TANs and TAMs to regulate the extrinsic apoptotic pathway and inflammation. | 0 |
| 38418155 | 2024 | Association Between AIRE Polymorphisms rs870881(C>T), rs1003854(T>C) and Rheumatoid Arthritis Risk: A Hungarian Case-control Study. | 1 |
| 38473903 | 2024 | Analysis of the AIRE Gene Promoter in Patients Affected by Autoimmune Polyendocrine Syndromes. | 0 |
| 36251243 | 2023 | A non-classical presentation of APECED in a family with heterozygous R203X AIRE gene mutation. | 0 |
| 36305192 | 2023 | Autoimmune regulator (AIRE): Takes a hypoxia-inducing factor 1A (HIF1A) route to regulate FOXP3 expression in PCOS. | 0 |
| 36631020 | 2023 | [Effects of FoxN1, p63 and AIRE on the process of age-related thymus involution: An update]. | 0 |
| 36808352 | 2023 | The promoter methylations of the autoimmune regulator (AIRE) gene and matrix metalloproteinase-3 (MMP-3) gene may have a role in gestational diabetes mellitus. | 0 |
| 36902438 | 2023 | Autoimmune Regulator Gene Polymorphisms and the Risk of Primary Immune Thrombocytopenic Purpura: A Case-Control Study. | 0 |
| 36912123 | 2023 | AIRE illuminates the feature of medullary thymic epithelial cells in thymic carcinoma. | 6 |
| 37909333 | 2023 | A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1. | 1 |
Citation
Dessen P
AIRE (autoimmune regulator)
Atlas Genet Cytogenet Oncol Haematol. 2007-12-01
Online version: http://atlasgeneticsoncology.org/gene/49934/aire
