AIRE (autoimmune regulator)

2007-12-01

Identity

HGNC

AIRE

LOCATION

21q22.3

LOCUSID

326

ALIAS

AIRE1,APECED,APS1,APSI,PGA1

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)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Primary immunodeficiency	KEGG	ko05340
Primary immunodeficiency	KEGG	hsa05340
Ubiquitin mediated proteolysis	KEGG	ko04120
Ubiquitin mediated proteolysis	KEGG	hsa04120

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
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
38030802	2024	A novel missense mutation in the AIRE gene underlying autoimmune polyglandular syndrome type 1.	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

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Citation

Dessen P

AIRE (autoimmune regulator)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49934/aire-(autoimmune-regulator)