AIRE (autoimmune regulator)

2007-12-01  

Identity

HGNC
AIRE
LOCATION
21q22.3
LOCUSID
326
ALIAS
AIRE1,APECED,APS1,APSI,PGA1

Other Information

Locus ID:

NCBI: 326
MIM: 607358
HGNC: 360
Ensembl: ENSG00000160224

Variants:

dbSNP: 326
ClinVar: 326
TCGA: ENSG00000160224
COSMIC: AIRE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160224ENST00000291582O43918

Expression (GTEx)

0
1
2
3
4
5
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

PathwaySourceExternal ID
Ubiquitin mediated proteolysisKEGGko04120
Primary immunodeficiencyKEGGko05340
Ubiquitin mediated proteolysisKEGGhsa04120
Primary immunodeficiencyKEGGhsa05340

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
380308022024A novel missense mutation in the AIRE gene underlying autoimmune polyglandular syndrome type 1.0
380609952024AIRE is expressed in breast cancer TANs and TAMs to regulate the extrinsic apoptotic pathway and inflammation.0
384181552024Association Between AIRE Polymorphisms rs870881(C>T), rs1003854(T>C) and Rheumatoid Arthritis Risk: A Hungarian Case-control Study.1
384739032024Analysis of the AIRE Gene Promoter in Patients Affected by Autoimmune Polyendocrine Syndromes.0
380308022024A novel missense mutation in the AIRE gene underlying autoimmune polyglandular syndrome type 1.0
380609952024AIRE is expressed in breast cancer TANs and TAMs to regulate the extrinsic apoptotic pathway and inflammation.0
384181552024Association Between AIRE Polymorphisms rs870881(C>T), rs1003854(T>C) and Rheumatoid Arthritis Risk: A Hungarian Case-control Study.1
384739032024Analysis of the AIRE Gene Promoter in Patients Affected by Autoimmune Polyendocrine Syndromes.0
362512432023A non-classical presentation of APECED in a family with heterozygous R203X AIRE gene mutation.0
363051922023Autoimmune regulator (AIRE): Takes a hypoxia-inducing factor 1A (HIF1A) route to regulate FOXP3 expression in PCOS.0
366310202023[Effects of FoxN1, p63 and AIRE on the process of age-related thymus involution: An update].0
368083522023The promoter methylations of the autoimmune regulator (AIRE) gene and matrix metalloproteinase-3 (MMP-3) gene may have a role in gestational diabetes mellitus.0
369024382023Autoimmune Regulator Gene Polymorphisms and the Risk of Primary Immune Thrombocytopenic Purpura: A Case-Control Study.0
369121232023AIRE illuminates the feature of medullary thymic epithelial cells in thymic carcinoma.6
379093332023A 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-(autoimmune-regulator)