AIRE Chromosome 21

Autoimmune regulator

218 variants 218 Health Risk

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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
RS1027582142	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Inborn genetic diseases
RS1231469574	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, AIRE-related disorder
RS138066507	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS139620961	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS140196414	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS141480813	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Polyglandular autoimmune syndrome, type 1
RS142366324	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, AIRE-related disorder
RS144396624	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS146810389	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Inborn genetic diseases
RS148012328	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS150634562	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, AIRE-related disorder
RS179363884	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS181779633	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS193922417	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS199612115	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, AIRE-related disorder
RS201491251	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, AIRE-related disorder
RS201650973	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, AIRE-related disorder
RS2517876295	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS371847563	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS371876095	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Inborn genetic diseases
RS373383785	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS373993732	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS41277546	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Cholangiocarcinoma
RS528762050	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Inborn genetic diseases
RS543891914	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Inborn genetic diseases
RS559428418	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Inborn genetic diseases
RS72650674	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS72650677	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS72650678	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS72650680	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS74162061	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS747761045	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Inborn genetic diseases
RS752432041	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Inborn genetic diseases
RS754391375	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Inborn genetic diseases
RS754932526	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS760027964	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS763487370	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS771790456	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Inborn genetic diseases
RS775297065	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Inborn genetic diseases
RS79212994	Health Risk	Conflicting classifications of pathogenicity	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS1029475010	Health Risk	Likely pathogenic	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS1032171597	Health Risk	Likely pathogenic	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS1057516225	Health Risk	Likely pathogenic	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS1057516314	Health Risk	Likely pathogenic	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS1057516411	Health Risk	Likely pathogenic	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS1057516499	Health Risk	Likely pathogenic	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS1057516811	Health Risk	Likely pathogenic	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS1057517011	Health Risk	Likely pathogenic	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS1057517268	Health Risk	Likely pathogenic	Polyglandular autoimmune syndrome, type 1, Polyglandular autoimmune syndrome
RS1057517878	Health Risk	Likely pathogenic	—

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