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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AIRE Gene

protein-coding   GIFtS: 66
GCID: GC21P045705

autoimmune regulator

(Previous name: autoimmune regulator (autoimmune polyendocrinopathy candidiasis...)
(Previous symbol: APECED)
 Explore 63 diseases affiliated with
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Biological research products
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Aliases
for AIRE gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section
Aliases
Autoimmune Regulator1 2     Autoimmune Regulator (Autoimmune Polyendocrinopathy Candidiasis Ectodermal
Dystrophy)1
APECED1 2 3 5     Autoimmune Regulator (APECED Protein)11
APS11 2 5     AIRE12
PGA11 2     APSI2
Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy Protein2 3     APECED Protein3

External Ids:    HGNC: 3601   Entrez Gene: 3262   Ensembl: ENSG000001602247   OMIM: 6073585   UniProtKB: O439183   

Export aliases for AIRE gene to outside databases

Previous GC identifers: GC21P042215 GC21P044563 GC21P044561 GC21P044530 GC21P031076


Summaries
for AIRE gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for AIRE:
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)

UniProtKB/Swiss-Prot: AIRE_HUMAN, O43918
Function: Transcriptional regulator that binds to DNA as a dimer or as a tetramer, but not as a monomer. Binds to
G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5'-. ATTGGTTA-3' combined with a
5'-TTATTA-3' box. Binds to nucleosomes (By similarity). Binds to chromatin and interacts selectively with histone H3
that is not methylated at 'Lys-4', not phosphorylated at 'Thr-3' and not methylated at 'Arg-2'. Functions as a sensor
of histone H3 modifications that are important for the epigenetic regulation of gene expression. Functions as a
transcriptional activator and promotes the expression of otherwise tissue-specific self-antigens in the thymus, which
is important for self tolerance and the avoidance of autoimmune reactions

Gene Wiki entry for AIRE (Autoimmune regulator)


Genomic Views
for AIRE gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.1  NT_011515.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AIRE gene promoter:
         AP-1   ATF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AIRE promoter sequence

   Search SABiosciences Chromatin IP Primers for AIRE

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AIRE


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
AIRE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AIRE gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P045705:   GeneLoc Nature:405,311-319
Start:
 45,705,721 bp from pter       31,215,162 bp from centromere
End:
 45,718,531 bp from pter 31,227,494 bp from centromere
Size:
 12,811 bases 12,333 bases
Orientation:
 plus strand plus strand

Whole chromosome sequencing:
cDNA sequence: Z97990
genomic clones: KUD4G11


Proteins
for AIRE gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: AIRE_HUMAN, O43918 (See protein sequence)
Recommended Name: Autoimmune regulator  
Size: 545 amino acids; 57727 Da
Subunit: Homodimer and homotetramer. Interacts with CREBBP. Interacts preferentially with histone H3 that is not
methylated at 'Lys-4'. Binds with lower affinity to histone H3 that is monomethylated at 'Lys-4'. Trimethylation of
histone H3 at 'Lys-4' or phosphorylation at 'Thr-3' abolish the interaction. Binds with lower affinity to histone H3
that is acetylated at 'Lys-4', or that is acetylated at 'Lys-9' or trimethylated at 'Lys-9'. Binds histone H3 that is
dimethylated at 'Arg-2' with very low affinity
Subcellular location: Nucleus. Cytoplasm. Note=Associated with tubular structures and in discrete nuclear dots
resembling ND10 nuclear bodies. May shuttle between nucleus and cytoplasm
4 PDB 3D structures from and Proteopedia for AIRE:
1XWH (3D)        2KE1 (3D)        2KFT (3D)        2LRI (3D)    
Secondary accessions: B2RP50 O43922 O43932 O75745
Alternative splicing: 4 isoforms:  O43918-1   O43918-2   O43918-3   O43918-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AIRE: NX_O43918

Post-translational modifications:

  • Phosphorylated. Phosphorylation could trigger oligomerization1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O43918

    • AIRE Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000374.1  
    ENSEMBL proteins: 
     ENSP00000291582   ENSP00000337986   ENSP00000435713   ENSP00000381080   ENSP00000347505  
     ENSP00000331055  

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    OriGene Protein Over-expression Lysate (see all 2): AIRE
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    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for AIRE

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS9398840
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane IDA--
    GO:0015629actin cytoskeleton IDA--


    AIRE for ontologies           About GeneDecksing



    AIRE Antibody Products: 
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    Uscn Antibodies for AIRE
    ThermoFisher Antibodies for AIRE

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    Uscn ELISAs and CLIAs for AIRE

    Protein Domains /
    Families
    for AIRE gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    AIRE for domains           About GeneDecksing

    5/9 InterPro domains/families (see all 9):
     IPR019786 Zinc_finger_PHD-type_CS
     IPR001965 Znf_PHD
     IPR010919 SAND_dom-like
     IPR004865 Sp100
     IPR008087 AIRE

    Graphical View of Domain Structure for InterPro Entry O43918

    ProtoNet protein and cluster: O43918

    5 Blocks protein families:
    IPB000770 SAND domain
    IPB001965 Zn-finger-like
    IPB004865 Sp100 domain
    IPB008087 Autoimmune regulator (AIRE) signature
    IPB010919 SAND-like


    UniProtKB/Swiss-Prot: AIRE_HUMAN, O43918
    Domain: The L-X-X-L-L repeats may be implicated in binding to nuclear receptors
    Domain: The HSR domain is required for localization on tubular structures (N-terminal part) and for homodimerization
    Domain: Interacts via the first PHD domain with the N-terminus of histone H3 that is not methylated at 'Lys-4'.
    Disruption of the first PHD domain has been shown to lead to reduced transcriptional activity and to localization of
    the protein mainly in the cytoplasm in small granules. While the PHD zinc fingers are necessary for the
    transactivation capacity of the protein, other regions also modulate this function
    Similarity: Contains 1 HSR domain
    Similarity: Contains 2 PHD-type zinc fingers
    Similarity: Contains 1 SAND domain


    Function
    for AIRE gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: AIRE_HUMAN, O43918
    Function: Transcriptional regulator that binds to DNA as a dimer or as a tetramer, but not as a monomer. Binds to
    G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5'-. ATTGGTTA-3' combined with a
    5'-TTATTA-3' box. Binds to nucleosomes (By similarity). Binds to chromatin and interacts selectively with histone H3
    that is not methylated at 'Lys-4', not phosphorylated at 'Thr-3' and not methylated at 'Arg-2'. Functions as a sensor
    of histone H3 modifications that are important for the epigenetic regulation of gene expression. Functions as a
    transcriptional activator and promotes the expression of otherwise tissue-specific self-antigens in the thymus, which
    is important for self tolerance and the avoidance of autoimmune reactions

         Genatlas biochemistry entry for AIRE:
    autoimmune regulator gene with three alternatively spliced isoforms,expressed in immunological tissues,also expressed
    in the cytoplasm,located in nuclear bodies separated from the PML bodies and colocalizing with cytoskeletal
    filaments,may be involved in the regulation of gene expression

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: AIRE 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AIRE (see all 7)
    OriGene shRNA RFP: AIRE
    OriGene siRNA: AIRE
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AIRE

    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IDA18292755
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IDA19446523
    GO:0042393histone binding IDA18292755
    GO:0042802identical protein binding IEA--


    AIRE for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for AIRE:
     Big cells 

    Animal Models:
         Mouse knock-outs for AIRE: Airetm1.1Doi Airetm1Ptsn Airetm1Pltn Airetm1Mmat
         15/17 MGI mutant phenotypes (inferred from 9 alleles) (MGI details for Aire) (see all 17):
     behavior/neurological  cellular  digestive/alimentary  endocrine/exocrine gland  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system  mortality/aging 
     nervous system  no phenotypic analysis  normal  reproductive system  respiratory system 

    AIRE for phenotypes           About GeneDecksing


    Pathways & Interactions
    for AIRE gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Primary immunodeficiency
    		Primary immunodeficiency1.00
    2Antigen processing: Ubiquitination & Proteasome degradation
    		Ubiquitin mediated proteolysis0.36

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    2         Kegg Pathways  (Kegg details for AIRE):
        Ubiquitin mediated proteolysis
    Primary immunodeficiency


    AIRE for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AIRE

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/75 Interacting proteins for AIRE (O439181, 2, 3 ENSP000002915824) via UniProtKB, MINT, STRING, and/or I2D (see all 75)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3CP684312, 3MINT-6542493 MINT-6542602 MINT-6542217 MINT-6542176 MINT-6542437 MINT-6542623 MINT-6542513 MINT-6542121 MINT-6542585 MINT-6542551 MINT-6542098 MINT-6542155 MINT-6542420 MINT-6542202 MINT-6542385 MINT-6542408 MINT-6542567 MINT-6542476 MINT-6542533 MINT-6542137 I2D: score=3 
    HIST1H3DP684312, 3MINT-6542493 MINT-6542602 MINT-6542217 MINT-6542176 MINT-6542437 MINT-6542623 MINT-6542513 MINT-6542121 MINT-6542585 MINT-6542551 MINT-6542098 MINT-6542155 MINT-6542420 MINT-6542202 MINT-6542385 MINT-6542408 MINT-6542567 MINT-6542476 MINT-6542533 MINT-6542137 I2D: score=3 
    HIST1H3EP684312, 3MINT-6542493 MINT-6542602 MINT-6542217 MINT-6542176 MINT-6542437 MINT-6542623 MINT-6542513 MINT-6542121 MINT-6542585 MINT-6542551 MINT-6542098 MINT-6542155 MINT-6542420 MINT-6542202 MINT-6542385 MINT-6542408 MINT-6542567 MINT-6542476 MINT-6542533 MINT-6542137 I2D: score=3 
    HIST1H3FP684312, 3MINT-6542493 MINT-6542602 MINT-6542217 MINT-6542176 MINT-6542437 MINT-6542623 MINT-6542513 MINT-6542121 MINT-6542585 MINT-6542551 MINT-6542098 MINT-6542155 MINT-6542420 MINT-6542202 MINT-6542385 MINT-6542408 MINT-6542567 MINT-6542476 MINT-6542533 MINT-6542137 I2D: score=3 
    HIST1H3GP684312, 3MINT-6542493 MINT-6542602 MINT-6542217 MINT-6542176 MINT-6542437 MINT-6542623 MINT-6542513 MINT-6542121 MINT-6542585 MINT-6542551 MINT-6542098 MINT-6542155 MINT-6542420 MINT-6542202 MINT-6542385 MINT-6542408 MINT-6542567 MINT-6542476 MINT-6542533 MINT-6542137 I2D: score=3 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IDA18292755
    GO:0006955immune response TAS9398840
    GO:0006959humoral immune response IEA--
    GO:0045893positive regulation of transcription, DNA-dependent IDA18292755


    AIRE for ontologies           About GeneDecksing



    Drugs & Compounds
    for AIRE gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AIRE for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AIRE
    5 Novoseek chemical compound relationships for AIRE gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 34.4 15 9931335 (2), 9856486 (1), 9931333 (1), 11533054 (1) (see all 12)
    sb 203580 12.6 4 17179667 (1), 15894121 (1)
    cytosine 4.36 2 10946904 (1), 12651856 (1)
    tyrosine 0 3 11533054 (1), 19209622 (1)
    serine 0 3 11533054 (1), 12542742 (1)

    Search CenterWatch for drugs/clinical trials and news about AIRE 

    Transcripts
    for AIRE gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for AIRE gene (3 alternative transcripts): 
    NM_000383.3  NM_000658.2  NM_000659.1  

    Unigene Cluster for AIRE:

    Autoimmune regulator
    Hs.129829  [show with all ESTs]
    Unigene Representative Sequence: NM_000383
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000530812(uc002zei.2) ENST00000527919 ENST00000291582 ENST00000337909
    ENST00000468282 ENST00000397994(uc010gpq.2 uc002zej.2 uc010gpr.2)
    ENST00000355347 ENST00000329347

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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AB006682.1 AB006683.1 BC137268.1 BC137270.1 Z97990.1 

    3 DOTS entries:

    DT.410658  DT.91753522  DT.121138413 

    13 AceView cDNA sequences:

    AB006683 AB006682 NM_000659 NM_000658 AB006685 Z97990 BV184386 NM_000383 
    AW590531 BX112453 BF508793 BE464150 AA742555 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for AIRE    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
    SP1:                                -                                   -                                                   
    SP2:                                                                                                                        
    SP3:                                                                                                                        
    SP4:                                                                                                                        
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for AIRE

    Expression
    for AIRE gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AIRE expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAACCATTGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See AIRE Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AIRE

    SOURCE GeneReport for Unigene cluster: Hs.129829

    UniProtKB/Swiss-Prot: AIRE_HUMAN, O43918
    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. Isoform 2 and isoform 3 seem to be less frequently expressed than isoform 1, if at all

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    Orthologs
    for AIRE gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for AIRE gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Aire1 , 5 autoimmune regulator (autoimmune polyendocrinopathy more1, 5 76.75(n)1
    72.91(a)1    		   10 (39.72 cM)5
    116341  NM_009646.11  NP_033776.11 
     780300225 
    chicken
    (Gallus gallus)    		 Aves AIRE6
    		 Uncharacterized protein
    		 39(a)
    		 1 ↔ 1
    		 9(1888212-1892096)
    lizard
    (Anolis carolinensis)    		 Reptilia AIRE6
    		 --
    		 71(a)
    		 1 ↔ 1
    		 3(35476449-35476634)
    zebrafish
    (Danio rerio)    		 Actinopterygii aire1 autoimmune regulator 51.18(n)
    40.66(a)    		   100007662  NM_001110014.1  NP_001103484.1 


    ENSEMBL Gene Tree for AIRE (if available)
    TreeFam Gene Tree for AIRE (if available) 

    Paralogs
    for AIRE gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for AIRE gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/415 NCBI SNPs in AIRE are shown (see all 415)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 21 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs37469641,2
    		C,F,A,H,non-pathogenic45705988(+) CTGGCT/CGACCA 2 /A syn1 ese318Minor allele frequency- C:0.36NS EA NA CSA WA 2101
    rs1214342561,2
    		Cpathogenic45706968(+) AGGCTC/G/TGAGCT 3 R G * mis1 stg11NA 2786
    rs1214342541,2
    		Cpathogenic45709656(+) TGGTTC/TGAGCC 2 R * stg11Minor allele frequency- T:0.00EU 1001
    rs343976151,2
    		C,F,probable-non-pathogenic45709642(-) GCTTCG/AGGCCA 2 /P /L mis14Minor allele frequency- A:0.01NA WA 4324
    rs617370721,2
    		C,F,probable-non-pathogenic45712983(+) CCGCCT/CTCTGC 2 /P syn14Minor allele frequency- C:0.06NS CSA WA NA 3615
    rs1427889461,2
    		Cprobable-pathogenic45706895(+) AGGAAG/TCCCCC 2 K N mis11Minor allele frequency- T:0.00NA 3612
    rs1939224171,2
    		C,probable-pathogenic45706924(+) GGTACC/TGCCAC 2 P L mis10--------
    rs726506771,2
    		C,F,probable-pathogenic45713715(+) TGGTAC/TGGACG 2 T M mis12Minor allele frequency- T:0.00NA EU 5609
    rs1793638851,2
    		Cuntested45711075(+) CCCTCA/C/TGCTCC 3 Q P L mis10--------
    rs32140741,2
    		C,unknown45707516(+) TGGCCA/-GGGGC 1 -- int12Minor allele frequency- -:0.25NA CSA 4

    HapMap Linkage Disequilibrium report for AIRE (45705721 - 45718531 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for AIRE
         1 CNV: 7327
    Human Gene Mutation Database (HGMD): AIRE

    Locus Specific Mutation Databases (LSDB): AIRE

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    Disorders / Diseases
    for AIRE gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    AIRE for disorders           About GeneDecksing

    OMIM gene information: 607358   
    OMIM disorders: 240300  
    UniProtKB/Swiss-Prot: AIRE_HUMAN, O43918
  • Defects in AIRE are a cause of autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APS1)
    • [MIM:240300]. An autosomal recessive disease characterized by the combination of chronic mucocutaneous candidiasis,
    hypoparathyroidism and Addison disease. Symptoms of mucocutaneous candidiasis manifest first, followed by hypotension
    or fatigue occurring as a result of Addison disease. APS1 is associated with other autoimmune disorders including
    diabetes mellitus, vitiligo, alopecia, hepatitis, pernicious anemia and primary hypothyroidism
  • Note=Most of the mutations alter the nucleus-cytoplasm distribution of AIRE and disturb its association with
    • nuclear dots and cytoplasmic filaments. Most of the mutations also decrease transactivation of the protein. The HSR
    domain is responsible for the homomultimerization activity of AIRE. All the missense mutations of the HSR and the SAND
    domains decrease this activity, but those in other domains do not. The AIRE protein is present in soluble
    high-molecular-weight complexes. Mutations in the HSR domain and deletion of PHD zinc fingers disturb the formation of
    these complexes

    20/63 diseases for AIRE (see all 63):    About MalaCards
    candidiasis    autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia    marginal zone b-cell lymphoma    metaphyseal dysplasia
    autoimmune polyendocrine syndrome type 1    hypersensitivity reaction type ii disease    autoimmune polyendocrine syndrome    chronic inflammatory demyelinating polyneuropathy
    alopecia areata    demyelinating polyneuropathy    chronic mucocutaneous candidiasis    myasthenia gravis
    b-cell lymphomas    alopecia universalis    ectodermal dysplasia    parathyroid gland disease
    omenn syndrome    progressive muscular atrophy    pernicious anemia    muscular atrophy

    7 diseases from the University of Copenhagen DISEASES database for AIRE:
    Candidiasis     Hypersensitivity reaction type II disease     Addison's disease     Parathyroid gland disease
    Alopecia     Omenn syndrome     Autosomal recessive disease

    10/35 Novoseek disease relationships for AIRE gene (see all 35)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    apeced 99.1 241 9931333 (7), 10677297 (5), 15270412 (4), 9267805 (4) (see all 99)
    polyendocrinopathies autoimmune 97.8 41 15640689 (4), 16290093 (2), 12625412 (2), 11156688 (1) (see all 33)
    candidiasis chronic mucocutaneous 94.7 5 20407228 (2), 18728167 (1), 19209622 (1)
    hypoparathyroidism 89.4 9 20407228 (2), 16313305 (1), 18322283 (1), 9837820 (1) (see all 7)
    addisons disease 88.8 11 11298085 (2), 10920386 (1), 11916620 (1), 10634424 (1) (see all 8)
    candidiasis 87.3 26 15640689 (4), 12625412 (2), 11156688 (1), 14655274 (1) (see all 22)
    autoimmune diseases 79.4 45 15790357 (2), 9856486 (1), 16552513 (1), 19011376 (1) (see all 41)
    autoimmunity 78.4 27 16682278 (2), 12398240 (2), 16290093 (2), 16431348 (2) (see all 17)
    omenn syndrome 71.7 8 15696198 (3), 16682278 (1), 19414857 (1)
    hepatitis autoimmune 66.5 7 19322061 (3), 17891543 (1), 19209622 (1), 11343230 (1)

    Genetic Association Database (GAD): AIRE
    Human Genome Epidemiology (HuGE) Navigator: AIRE (20 documents)

    Export disorders for AIRE gene to outside databases

    Publications
    for AIRE gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AIRE gene, integrated from 9 sources (see all 218):
    (articles sorted by number of sources associating them with AIRE)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype. (PubMed id 12050215)1, 2, 4 Halonen M.... Partanen J. (2002)
    2. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. (PubMed id 9398840)1, 2, 3 Aaltonen J.... Yaspo M.-L. (1997)
    3. APECED-causing mutations in AIRE reveal the functional domains of the protein. (PubMed id 14974083)1, 2, 9 Halonen M.... Eskelin P. (2004)
    4. Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy protein. (PubMed id 10677297)1, 2, 9 Bjeorses P.... Peltonen L. (2000)
    5. Localization of the APECED protein in distinct nuclear structures. (PubMed id 9931333)1, 2, 9 Bjoerses P....Ulmanen I. (1999)
    6. Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation. (PubMed id 16114041)1, 2, 9 Ilmarinen T.... Ulmanen I. (2005)
    7. Role of the autoimmune regulator (AIRE) gene in alopecia areata: strong association of a potentially functional AIRE polymorphism with alopecia universalis. (PubMed id 12542742)1, 4, 9 Tazi-Ahnini R....Messenger A.G. (2002)
    8. Subcellular localization of the autoimmune regulator protein. characterization of nuclear targeting and transcriptional activation domain. (PubMed id 11274163)1, 2, 9 Pitkaenen J.... Peterson P. (2001)
    9. Structure and Site-Specific Recognition of Histone H3 by the PHD Finger of Human Autoimmune Regulator. (PubMed id 19446523)1, 2, 9 Chakravarty S....Zhou M.M. (2009)
    10. The autoimmune regulator (AIRE) is a DNA-binding protein. (PubMed id 11533054)1, 2, 9 Kumar P.G.... She J.-X. (2001)

    External Searches for AIRE gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing AIRE gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 326 HGNC: 360 AceView: AIRE Ensembl:ENSG00000160224 euGenes: HUgn326
    ECgene: AIRE Kegg: 326 H-InvDB: AIRE

    Other Databases showing AIRE gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing AIRE gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AIRE Pharmacogenomics, SNPs, Pathways
    AIREbasehttp://bioinf.uta.fi/AIREbase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AIRE

    Intellectual Property
    for AIRE gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for AIRE gene:
    Search GeneIP for patents involving AIRE

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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