AIRE Chromosome 21
Autoimmune regulator
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What This Gene Does
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]
Gene Info
Gene Group
"PHD finger proteins|SAND domain containing"
Locus Type
gene with protein product
Location
21q22.3
Ensembl
ENSG00000160224
Associated Conditions (13)
Polyglandular autoimmune syndrome
type 1
Inborn genetic diseases
AIRE-related disorder
Cholangiocarcinoma
Uterine corpus endometrial carcinoma
Sarcoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Lung cancer
Inherited Immunodeficiency Diseases
Autoimmune polyglandular syndrome type 1
with reversible metaphyseal dysplasia
Key Variants
RS1027582142
Conflicting classifications of pathogenicity
Polyglandular autoimmune syndrome, type 1, Inborn genetic diseases
Health Risk
RS1231469574
Conflicting classifications of pathogenicity
Polyglandular autoimmune syndrome, type 1, AIRE-related disorder
Health Risk
RS138066507
Conflicting classifications of pathogenicity
Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
Health Risk
RS139620961
Conflicting classifications of pathogenicity
Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
Health Risk
RS140196414
Conflicting classifications of pathogenicity
Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
Health Risk
RS141480813
Conflicting classifications of pathogenicity
Inborn genetic diseases, Polyglandular autoimmune syndrome, type 1
Health Risk
RS142366324
Conflicting classifications of pathogenicity
Polyglandular autoimmune syndrome, type 1, AIRE-related disorder
Health Risk
RS144396624
Conflicting classifications of pathogenicity
Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
Health Risk
RS146810389
Conflicting classifications of pathogenicity
Polyglandular autoimmune syndrome, type 1, Inborn genetic diseases
Health Risk
RS148012328
Conflicting classifications of pathogenicity
Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
Health Risk
RS150634562
Conflicting classifications of pathogenicity
Polyglandular autoimmune syndrome, type 1, AIRE-related disorder
Health Risk
RS179363884
Conflicting classifications of pathogenicity
Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
Health Risk
All Variants (218)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057517072 | Health Risk | Pathogenic/Likely pathogenic | Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome |
| RS140630532 | Health Risk | Pathogenic/Likely pathogenic | Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome |
| RS1568932096 | Health Risk | Pathogenic/Likely pathogenic | Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome |
| RS1601963938 | Health Risk | Pathogenic/Likely pathogenic | Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome |
| RS179363878 | Health Risk | Pathogenic/Likely pathogenic | Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome |
| RS179363882 | Health Risk | Pathogenic/Likely pathogenic | Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome |
| RS179363885 | Health Risk | Pathogenic/Likely pathogenic | Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome |
| RS179363889 | Health Risk | Pathogenic/Likely pathogenic | Polyglandular autoimmune syndrome, type 1, AIRE-related disorder |
| RS193922418 | Health Risk | Pathogenic/Likely pathogenic | Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome |
| RS2146379725 | Health Risk | Pathogenic/Likely pathogenic | Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome |
| RS2146383573 | Health Risk | Pathogenic/Likely pathogenic | Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome |
| RS386833675 | Health Risk | Pathogenic/Likely pathogenic | Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia, Polyglandular autoimmune syndrome |
| RS747941115 | Health Risk | Pathogenic/Likely pathogenic | Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome |
| RS755490967 | Health Risk | Pathogenic/Likely pathogenic | Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome |
| RS760280615 | Health Risk | Pathogenic/Likely pathogenic | Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome |
| RS763695515 | Health Risk | Pathogenic/Likely pathogenic | Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome |
| RS786204478 | Health Risk | Pathogenic/Likely pathogenic | Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome |
| RS940485051 | Health Risk | Pathogenic/Likely pathogenic | Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome |