GenTIGS

Autoimmune regulator (AIRE) Associated conditions: 1. Insulin autoimmune syndrome 2. Polyglandular autoimmune syndrome, type 1

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000383.4	NP_000374.1	NC_000021.9	(44285875..44298647)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1225 reference articles

Variant Information Autoimmune regulator (AIRE) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Autoimmune regulator (AIRE)

ClinVar variants:Revealing mutagenic patterns

GO Term of Autoimmune regulator (AIRE)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IBA	enables	RNA polymerase II transcription regulatory region sequence-specific DNA binding	Function	-
2	Homo sapiens	IDA	enables	RNA polymerase II transcription regulatory region sequence-specific DNA binding	Function	11533054
3	Homo sapiens	IBA	involved_in	peripheral T cell tolerance induction	Process	-
4	Homo sapiens	IEA	involved_in	peripheral T cell tolerance induction	Process	-
5	Homo sapiens	ISS	involved_in	peripheral T cell tolerance induction	Process	-
6	Homo sapiens	IEA	involved_in	tolerance induction	Process	-
7	Homo sapiens	IBA	involved_in	central tolerance induction to self antigen	Process	-
8	Homo sapiens	IMP	involved_in	central tolerance induction to self antigen	Process	26084028
9	Homo sapiens	IEA	enables	DNA binding	Function	-
10	Homo sapiens	IBA	enables	chromatin binding	Function	-
11	Homo sapiens	IDA	enables	chromatin binding	Function	18292755
12	Homo sapiens	IPI	enables	protein binding	Function	17474147 18292755 20085707 20185822
13	Homo sapiens	IBA	is_active_in	nucleus	Component	-
14	Homo sapiens	IEA	located_in	nucleus	Component	-
15	Homo sapiens	NAS	located_in	nucleus	Component	9398840
16	Homo sapiens	TAS	located_in	nucleus	Component	9398839
17	Homo sapiens	IEA	located_in	cytoplasm	Component	-
18	Homo sapiens	IDA	involved_in	regulation of DNA-templated transcription	Process	18292755
19	Homo sapiens	IEA	involved_in	regulation of translation	Process	-
20	Homo sapiens	IEA	involved_in	immune response	Process	-
21	Homo sapiens	TAS	involved_in	immune response	Process	9398840
22	Homo sapiens	IBA	involved_in	humoral immune response	Process	-
23	Homo sapiens	IEA	involved_in	humoral immune response	Process	-
24	Homo sapiens	IDA	enables	zinc ion binding	Function	19446523
25	Homo sapiens	IEA	enables	zinc ion binding	Function	-
26	Homo sapiens	IEA	located_in	nuclear body	Component	-
27	Homo sapiens	ISS	located_in	nuclear body	Component	-
28	Homo sapiens	IEA	involved_in	positive regulation of chemokine production	Process	-
29	Homo sapiens	ISS	involved_in	positive regulation of chemokine production	Process	-
30	Homo sapiens	IBA	enables	histone binding	Function	-
31	Homo sapiens	IDA	enables	histone binding	Function	18292755 19446523
32	Homo sapiens	IEA	enables	identical protein binding	Function	-
33	Homo sapiens	IPI	enables	identical protein binding	Function	15712268 20185822 28540407
34	Homo sapiens	IBA	involved_in	negative thymic T cell selection	Process	-
35	Homo sapiens	IEA	enables	translation regulator activity	Function	-
36	Homo sapiens	IDA	involved_in	positive regulation of DNA-templated transcription	Process	18292755
37	Homo sapiens	IMP	involved_in	positive regulation of DNA-templated transcription	Process	26084028
38	Homo sapiens	IBA	involved_in	positive regulation of transcription by RNA polymerase II	Process	-
39	Homo sapiens	IEA	involved_in	positive regulation of transcription by RNA polymerase II	Process	-
40	Homo sapiens	IMP	involved_in	positive regulation of transcription by RNA polymerase II	Process	11274163
41	Homo sapiens	IEA	enables	metal ion binding	Function	-
42	Homo sapiens	IBA	involved_in	thymus epithelium morphogenesis	Process	-
43	Homo sapiens	IEA	involved_in	thymus epithelium morphogenesis	Process	-
44	Homo sapiens	ISS	involved_in	thymus epithelium morphogenesis	Process	-
45	Homo sapiens	IBA	involved_in	regulation of thymocyte migration	Process	-
46	Homo sapiens	IEA	involved_in	regulation of thymocyte migration	Process	-
47	Homo sapiens	ISS	involved_in	regulation of thymocyte migration	Process	-