Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	326
Gene name Gene Name - the full gene name approved by the HGNC.	Autoimmune regulator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AIRE
Synonyms (NCBI Gene) Gene synonyms aliases	AIRE1, APECED, APS1, APSI, PGA1
Chromosome Chromosome number	21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	21q22.3
Summary Summary of gene provided in NCBI Entrez Gene.	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 negat

Show/Hide all(82)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41277546	C>T	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs72650680	C>T	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs74162061	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121434254	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs121434255	A>G	Pathogenic	Missense variant, coding sequence variant
rs121434256	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs121434257	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs121434258	A>G,T	Pathogenic, likely-pathogenic	Initiator codon variant, missense variant
rs138066507	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs138489664	G>A,C,T	Likely-pathogenic	Splice donor variant
rs140630532	C>T	Pathogenic	Missense variant, coding sequence variant
rs142788946	G>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150634562	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs179363878	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs179363880	T>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs179363882	A>G	Pathogenic	Missense variant, coding sequence variant
rs179363886	C>T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs179363889	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs193922417	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs193922418	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs199612115	G>T	Likely-pathogenic	Splice donor variant
rs201650973	C>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs267606642	T>G	Pathogenic	Missense variant, coding sequence variant
rs386833672	->A	Pathogenic	Frameshift variant, coding sequence variant
rs386833673	A>T	Likely-pathogenic	Terminator codon variant, stop lost
rs386833674	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs386833675	CTGTCCCCTCCGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906293	->C	Pathogenic	Frameshift variant, coding sequence variant
rs387906294	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906295	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs746101086	->C	Pathogenic	Frameshift variant, coding sequence variant
rs750764323	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs760280615	T>C	Likely-pathogenic	Splice donor variant
rs763695515	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs764819068	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs764878471	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs769305771	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs780906602	G>A	Pathogenic	Splice acceptor variant
rs786204478	T>C	Pathogenic, likely-pathogenic	Splice donor variant
rs786204567	->C	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs886041123	CTGA>TGG	Pathogenic	Frameshift variant, coding sequence variant
rs886041124	->CAGG	Pathogenic	Frameshift variant, coding sequence variant
rs886041293	GTG>CT	Pathogenic	Splice donor variant, intron variant
rs940485051	->AGAGCAGCAGCGC	Pathogenic	Frameshift variant, coding sequence variant
rs996389327	G>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1022025101	G>A	Likely-pathogenic	Splice donor variant
rs1032171597	A>G,T	Likely-pathogenic	Splice acceptor variant
rs1057516225	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516272	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516314	AG>C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516411	GG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516499	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516811	->T	Likely-pathogenic	Splice donor variant
rs1057516985	T>A	Likely-pathogenic	Splice donor variant
rs1057517011	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517072	CGCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517241	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1057517254	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517268	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517428	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517878	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691636	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1162316051	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1248788128	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1488613451	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555871777	TACGC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555871902	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555871928	AGC>TG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555872060	->AGCAG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555872272	T>C	Likely-pathogenic	Splice donor variant
rs1555872755	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555872879	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555872988	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555872997	->AGCCC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555873087	A>G	Likely-pathogenic	Splice acceptor variant
rs1555873118	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555873248	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555873650	A>G	Pathogenic	Splice acceptor variant
rs1568928525	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1601963938	->ACGCCGGCTTCTGAGGCTGCACC	Pathogenic, likely-pathogenic	Stop gained, inframe indel, coding sequence variant
rs1601969230	CG>T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1601969308	C>T	Pathogenic	Stop gained, coding sequence variant

Show/Hide all(40)

miRTarBase ID	miRNA	Experiments
MIRT2169389	hsa-miR-122	CLIP-seq
MIRT2169390	hsa-miR-216a	CLIP-seq
MIRT2169391	hsa-miR-4269	CLIP-seq
MIRT2169392	hsa-miR-4438	CLIP-seq
MIRT2169393	hsa-miR-4463	CLIP-seq
MIRT2169394	hsa-miR-4494	CLIP-seq
MIRT2169395	hsa-miR-4735-5p	CLIP-seq
MIRT2169396	hsa-miR-4775	CLIP-seq
MIRT2169397	hsa-miR-5095	CLIP-seq
MIRT2169398	hsa-miR-590-3p	CLIP-seq
MIRT2169389	hsa-miR-122	CLIP-seq
MIRT2471952	hsa-miR-1226	CLIP-seq
MIRT2169390	hsa-miR-216a	CLIP-seq
MIRT2169391	hsa-miR-4269	CLIP-seq
MIRT2471953	hsa-miR-4428	CLIP-seq
MIRT2169392	hsa-miR-4438	CLIP-seq
MIRT2169393	hsa-miR-4463	CLIP-seq
MIRT2169394	hsa-miR-4494	CLIP-seq
MIRT2471954	hsa-miR-4645-5p	CLIP-seq
MIRT2471955	hsa-miR-4673	CLIP-seq
MIRT2471956	hsa-miR-4733-3p	CLIP-seq
MIRT2169395	hsa-miR-4735-5p	CLIP-seq
MIRT2471957	hsa-miR-4742-5p	CLIP-seq
MIRT2169396	hsa-miR-4775	CLIP-seq
MIRT2169397	hsa-miR-5095	CLIP-seq
MIRT2169398	hsa-miR-590-3p	CLIP-seq
MIRT2674796	hsa-miR-1273g	CLIP-seq
MIRT2674797	hsa-miR-129-5p	CLIP-seq
MIRT2674798	hsa-miR-1297	CLIP-seq
MIRT2674799	hsa-miR-2052	CLIP-seq
MIRT2674800	hsa-miR-26a	CLIP-seq
MIRT2674801	hsa-miR-26b	CLIP-seq
MIRT2674802	hsa-miR-299-3p	CLIP-seq
MIRT2674803	hsa-miR-4465	CLIP-seq
MIRT2674804	hsa-miR-4491	CLIP-seq
MIRT2674805	hsa-miR-4657	CLIP-seq
MIRT2169395	hsa-miR-4735-5p	CLIP-seq
MIRT2674806	hsa-miR-4740-3p	CLIP-seq
MIRT2169396	hsa-miR-4775	CLIP-seq
MIRT2169398	hsa-miR-590-3p	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
DAXX	Repression	20185822

Show/Hide all(53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	11533054
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0001674	Component	Female germ cell nucleus	IEA
GO:0002458	Process	Peripheral T cell tolerance induction	IBA
GO:0002458	Process	Peripheral T cell tolerance induction	IEA
GO:0002458	Process	Peripheral T cell tolerance induction	ISS
GO:0002507	Process	Tolerance induction	IEA
GO:0002509	Process	Central tolerance induction to self antigen	IBA
GO:0002509	Process	Central tolerance induction to self antigen	IMP	26084028
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IDA	18292755
GO:0005515	Function	Protein binding	IPI	17474147, 18292755, 20085707, 20185822
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	9398840
GO:0005634	Component	Nucleus	TAS	9398839
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	18292755
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006417	Process	Regulation of translation	IEA
GO:0006955	Process	Immune response	IEA
GO:0006955	Process	Immune response	TAS	9398840
GO:0006959	Process	Humoral immune response	IBA
GO:0006959	Process	Humoral immune response	IEA
GO:0006959	Process	Humoral immune response	IEA
GO:0008270	Function	Zinc ion binding	IDA	19446523
GO:0008270	Function	Zinc ion binding	IEA
GO:0016604	Component	Nuclear body	IEA
GO:0016604	Component	Nuclear body	ISS
GO:0032722	Process	Positive regulation of chemokine production	IEA
GO:0032722	Process	Positive regulation of chemokine production	ISS
GO:0042393	Function	Histone binding	IBA
GO:0042393	Function	Histone binding	IDA	18292755, 19446523
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	15712268, 20185822, 28540407
GO:0045060	Process	Negative thymic T cell selection	IBA
GO:0045060	Process	Negative thymic T cell selection	IEA
GO:0045182	Function	Translation regulator activity	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	18292755
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	26084028
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	11274163
GO:0046872	Function	Metal ion binding	IEA
GO:0097536	Process	Thymus epithelium morphogenesis	IBA
GO:0097536	Process	Thymus epithelium morphogenesis	IEA
GO:0097536	Process	Thymus epithelium morphogenesis	ISS
GO:2000410	Process	Regulation of thymocyte migration	IBA
GO:2000410	Process	Regulation of thymocyte migration	IEA
GO:2000410	Process	Regulation of thymocyte migration	ISS

MIM	HGNC	e!Ensembl
607358	360	ENSG00000160224

Protein

UniProt ID

O43918

Protein name

Autoimmune regulator (Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein) (APECED protein)

Protein function

Transcription factor playing an essential role to promote self-tolerance in the thymus by regulating the expression of a wide array of self-antigens that have the commonality of being tissue-restricted in their expression pattern in the peripher

PDB

1XWH , 2KE1 , 2KFT , 2LRI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03172	HSR	3 → 103	HSR domain	Domain
PF01342	SAND	196 → 249	SAND domain	Family
PF00628	PHD	298 → 343	PHD-finger	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in thymus (medullary epithelial cells and monocyte-dendritic cells), pancreas, adrenal cortex and testis. Expressed at lower level in the spleen, fetal liver and lymph nodes. In secondary lym

Sequence

MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQETLHLKEKEGCPQAFH
ALLSWLLTQDSTAILDFWRVLFKDYNLERYGRLQPILDSFPKDVDLSQPRKGRKPPAVPK
ALVPPPRLPTKRKASEEARAAAPAALTPRGTASPGSQLKAKPPKKPESSAEQQRLPLGNG
IQTMSASVQRAVAMSSGDVPGARGAVEGILIQQVFESGGSKKCIQVGGEFYTPSKFEDSG
SGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQGSVPAPLALPSDPQLHQKNEDECA
VCRDGGELICCDGCPRAFHLACLSPPLREIPSGTWRCSSCLQATVQEVQPRAEEPRPQEP
PVETPLPPGLRSAGEEVRGPPGEPLAGMDTTLVYKHLPAPPSAAPLPGLDSSALHPLLCV
GPEGQQNLAPGARCGVCGDGTDVLRCTHCAAAFHWRCHFPAGTSRPGTGLRCRSCSGDVT
PAPVEGVLAPSPARLAPGPAKDDTASHEPALHRDDLESLLSEHTFDGILQWAIQSMARPA
APFPS

Sequence length

545

Interactions

View interactions

	KEGG
	Ubiquitin mediated proteolysis Primary immunodeficiency

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Polyglandular autoimmune syndrome	Polyglandular autoimmune syndrome, type 1	rs140630532, rs386833674, rs1248788128, rs1555871928, rs179363880, rs1057517241, rs386833675, rs1555873650, rs940485051, rs179363889, rs2040485564, rs1555872060, rs786204478, rs1057517268, rs121434256 View all (63 more)	N/A
Immunodeficiency	Inherited Immunodeficiency Diseases	rs121434258	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Rheumatoid arthritis	Rheumatoid arthritis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (77)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
abc disease	Associate	37369658
Addison Disease	Associate	25402387, 29849176, 33530632, 33574239, 34003463, 34078422
Adrenal Insufficiency	Associate	32557834, 34078422, 35521792
Alopecia	Associate	34078422
Alopecia Neurologic Defects and Endocrinopathy Syndrome	Associate	9837820
Anemia Pernicious	Associate	34145262
Arthritis Rheumatoid	Associate	23320549, 29129473, 30403260, 31275320, 38418155
Autoimmune Diseases	Associate	12651856, 14734522, 16784312, 23643663, 24988226, 25038256, 25402387, 26084018, 26084028, 27048654, 28242760, 29666621, 30979797, 38112858, 38418155
Autoimmune Diseases of the Nervous System	Associate	31275320
Autoimmune oophoritis	Associate	34078422
Autoimmune polyendocrinopathy syndrome type 1	Associate	18322283, 19837919, 21198756, 22024611, 23342054, 23643663, 24988226, 25038256, 25367057, 26084028, 26312540, 26830021, 26912174, 27253668, 28557628 View all (12 more)
Breast Neoplasms	Associate	27753538, 32426878
Candidiasis	Associate	17547716, 24988226, 29666621, 35432216, 35521792, 38112858
Candidiasis Chronic Mucocutaneous	Associate	19037923, 19196253, 27253668, 31420020, 34003463
Carcinoma Hepatocellular	Associate	19535095
Celiac Disease	Associate	34003463
Chemical and Drug Induced Liver Injury	Associate	32358377
Cholelithiasis	Associate	34003463
Connective Tissue Diseases	Associate	34003463
Death	Associate	34003463
Dental Enamel Hypoplasia	Associate	27253668
Diabetes Gestational	Associate	36808352
Diabetes Insipidus	Associate	34344344
Diabetes Insipidus Neurogenic	Associate	25367057
Diabetes Mellitus Type 1	Associate	25402387, 27048654, 27253668, 29129473, 32358377, 35521792
Disease	Associate	19293276
Down Syndrome	Associate	10490523, 25038256
Down Syndrome	Inhibit	21856934
Ectodermal Dysplasia	Associate	21356351
Endocrine System Diseases	Associate	35432216
Failure to Thrive	Associate	24945421
Genetic Diseases Inborn	Associate	15649886
Graves Disease	Associate	29752312
Graves Ophthalmopathy	Inhibit	24708100
Hashimoto Disease	Associate	25402387, 34078422
Hepatitis Autoimmune	Associate	34003463
Herpes Simplex	Associate	17547716
Hypersensitivity Immediate	Associate	9267805
Hypertension Pulmonary	Associate	14582926
Hypertensive Retinopathy	Associate	37711606
Hypoparathyroidism	Associate	24988226, 27253668, 28323927, 31433868, 33530632, 34078422, 35521792
Hypoparathyroidism familial isolated	Associate	35521792
Immunologic Deficiency Syndromes	Associate	25554620
Inflammation	Associate	31275320
Inflammatory Bowel Diseases	Associate	34758847
Leukemia Large Granular Lymphocytic	Associate	33468135
Lupus Erythematosus Systemic	Associate	18727623
Lymphoma T Cell Cutaneous	Associate	35390145
Melanoma	Associate	20363194
Metabolism Inborn Errors	Associate	37938781
Myasthenia Gravis	Associate	17590173, 29773681, 30734484
Neoplasms	Associate	19535095, 25230752, 27753538, 32012175, 32426878, 34003463
Nephritis Interstitial	Associate	21197407
Onychomycosis	Associate	34078422
Organizing Pneumonia	Associate	26084028
Osteoporosis pseudoglioma syndrome	Associate	36944707
Pneumonia	Associate	31167928
Polyendocrinopathies Autoimmune	Associate	12651856, 14582926, 14734522, 15649886, 16784312, 17179667, 17547716, 17825626, 17997173, 18200029, 18292755, 18600308, 18606876, 19037923, 19196253 View all (51 more)
Polyendocrinopathies Autoimmune	Inhibit	34526996, 37938781
Polyendocrinopathies Autoimmune	Stimulate	9267805
Primary Immunodeficiency Diseases	Associate	38644452
Primary Ovarian Insufficiency	Associate	28323927, 34078422
Purpura Thrombocytopenic	Associate	36902438
Purpura Thrombocytopenic Idiopathic	Associate	36902438
Red Cell Aplasia Pure	Associate	33468135
Rothmund Thomson Syndrome	Associate	36875114
Skin Manifestations	Associate	27253668
Skin Neoplasms	Associate	32012175
Squamous Cell Carcinoma of Head and Neck	Associate	32012175
Thymoma	Associate	17590173, 18568643, 25230752, 30734484, 36912123
Thymus Neoplasms	Associate	21856934
Thyroid Diseases	Associate	34078422
Thyroiditis Autoimmune	Associate	32358377
Tooth Injuries	Associate	34078422
Tuberculosis	Associate	26137541
Virus Diseases	Associate	38112858
Vitiligo	Associate	24945421, 34003463

AIRE (autoimmune regulator)