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Gene: AIRE (autoimmune regulator) Homo sapiens
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Symbol: AIRE
Name: autoimmune regulator
Description: Exhibits several functions, including RNA polymerase II regulatory region sequence-specific DNA binding activity; histone binding activity; and zinc ion binding activity. Involved in central tolerance induction to self antigen and positive regulation of transcription by RNA polymerase II. Predicted to localize to the nuclear body. Implicated in autoimmune polyendocrine syndrome and autoimmune polyendocrine syndrome type 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AIRE1; APECED; APS1; APSI; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein; autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy); PGA1
Orthologs:
Mus musculus (house mouse) : Aire (autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy))  MGI  Alliance
Rattus norvegicus (Norway rat) : Aire (autoimmune regulator)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Aire (autoimmune regulator)
Pan paniscus (bonobo/pygmy chimpanzee) : AIRE (autoimmune regulator)
Canis lupus familiaris (dog) : AIRE (autoimmune regulator)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Aire (autoimmune regulator)
Sus scrofa (pig) : AIRE (autoimmune regulator)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382144,285,876 - 44,298,648 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372145,705,721 - 45,718,102 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362144,530,191 - 44,542,530 (+)NCBINCBI36hg18NCBI36
Build 342144,534,575 - 44,542,300NCBI
Celera2130,811,017 - 30,823,364 (+)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2131,076,211 - 31,088,675 (+)NCBIHuRef
CHM1_12145,266,544 - 45,278,925 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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Disease Annotations
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Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on AIRE
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1322440
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.