Gene table of AIRE : autoimmune regulator

Gene-disease associations table

Disease ID	Disease name	Source of annotation with AIRE	OMIM link	Number of associated genes	genes
240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	AIRE

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Annotation of the gene AIRE

Associated genes in ENSEMBL

ENSG00000160224

Associated proteins - SwissProt Accession ID

O43918

Associated PDB IDs

Cytogenetic Band

21q22.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

CHRNA1

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Primary immunodeficiency	hsa05340	7.52
Ubiquitin mediated proteolysis	hsa04120	5.63

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
binding	GO:0005488	0.18
histone binding	GO:0042393	4.72
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
macromolecular complex binding	GO:0044877	2.61
zinc ion binding	GO:0008270	2.66
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
heterocyclic compound binding	GO:1901363	1.06
sequence-specific DNA binding	GO:0043565	2.79
sequence-specific double-stranded DNA binding	GO:1990837	3.2
transition metal ion binding	GO:0046914	2.48
transcription cofactor activity	GO:0003712	3.44
ion binding	GO:0043167	1.36
transcription factor activity, transcription factor binding	GO:0000989	3.36
transcription factor activity, protein binding	GO:0000988	3.35
double-stranded DNA binding	GO:0003690	3.09
metal ion binding	GO:0046872	1.41
identical protein binding	GO:0042802	2.63
cation binding	GO:0043169	1.4
regulatory region nucleic acid binding	GO:0001067	3.03
translation regulator activity	GO:0045182	6.15
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
transcription regulatory region DNA binding	GO:0044212	3.03
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001228	3.98
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
chromatin binding	GO:0003682	3.64
nucleic acid binding transcription factor activity	GO:0001071	2.65