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(Q14907298)
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English
AIRE
protein-coding gene in the species Homo sapiens
AIRE1
APECED
APS1
APSI
PGA1
autoimmune regulator
In more languages
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Statements
instance of
gene
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000160224
subclass of
protein-coding gene
1 reference
stated in
Ensembl Release 87
Ensembl gene ID
ENSG00000160224
image
PBB Protein AIRE image.jpg
500 × 500; 16 KB
0 references
found in taxon
Homo sapiens
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000160224
encodes
Autoimmune regulator
1 reference
stated in
UniProt
retrieved
6 July 2017
UniProt protein ID
O43918
genetic association
autoimmune polyendocrine syndrome type 1
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000160224/Orphanet_3453
based on heuristic
inferred from an Open Targets association score over 0.7
chromosome
human chromosome 21
genomic assembly
genome assembly GRCh38
Genome assembly GRCh37
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000160224
strand orientation
forward strand
genomic assembly
genome assembly GRCh38
Genome assembly GRCh37
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000160224
genomic start
44285838
chromosome
human chromosome 21
genomic assembly
genome assembly GRCh38
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000160224
45705721
chromosome
human chromosome 21
genomic assembly
Genome assembly GRCh37
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000160224
genomic end
44298648
chromosome
human chromosome 21
genomic assembly
genome assembly GRCh38
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000160224
45718531
chromosome
human chromosome 21
genomic assembly
Genome assembly GRCh37
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000160224
cytogenetic location
21q22.3
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
326
HomoloGene ID
327
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
326
Gene Atlas image
PBB GE AIRE 208090 s at fs.png
732 × 530; 12 KB
0 references
ortholog
Aire
found in taxon
house mouse
2 references
stated in
HomoloGene build68
HomoloGene ID
327
stated in
Orthologous MAtrix
reference URL
https://omabrowser.org/oma/vps/O43918/
Aire
found in taxon
brown rat
2 references
stated in
HomoloGene build68
HomoloGene ID
327
stated in
Orthologous MAtrix
reference URL
https://omabrowser.org/oma/vps/O43918/
aire
found in taxon
Danio rerio
1 reference
stated in
HomoloGene build68
HomoloGene ID
327
expressed in
testicle
series ordinal
1
1 reference
stated in
Bgee
retrieved
7 June 2024
reference URL
https://www.bgee.org/gene/ENSG00000160224
hypothalamus
series ordinal
2
1 reference
stated in
Bgee
retrieved
7 June 2024
reference URL
https://www.bgee.org/gene/ENSG00000160224
cingulate gyrus
series ordinal
3
1 reference
stated in
Bgee
retrieved
7 June 2024
reference URL
https://www.bgee.org/gene/ENSG00000160224
anterior cingulate cortex
series ordinal
4
1 reference
stated in
Bgee
retrieved
7 June 2024
reference URL
https://www.bgee.org/gene/ENSG00000160224
lymph node
series ordinal
5
1 reference
stated in
Bgee
retrieved
7 June 2024
reference URL
https://www.bgee.org/gene/ENSG00000160224
granulocyte
series ordinal
6
1 reference
stated in
Bgee
retrieved
7 June 2024
reference URL
https://www.bgee.org/gene/ENSG00000160224
nucleus accumbens
series ordinal
7
1 reference
stated in
Bgee
retrieved
7 June 2024
reference URL
https://www.bgee.org/gene/ENSG00000160224
right frontal lobe
series ordinal
8
1 reference
stated in
Bgee
retrieved
7 June 2024
reference URL
https://www.bgee.org/gene/ENSG00000160224
substantia nigra
series ordinal
9
1 reference
stated in
Bgee
retrieved
7 June 2024
reference URL
https://www.bgee.org/gene/ENSG00000160224
dorsolateral prefrontal cortex
series ordinal
10
1 reference
stated in
Bgee
retrieved
7 June 2024
reference URL
https://www.bgee.org/gene/ENSG00000160224
exact match
http://identifiers.org/ncbigene/326
1 reference
stated in
Identifiers.org
reference URL
http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069
Identifiers
RefSeq RNA ID
NM_000383
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
326
NM_000658
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
326
NM_000659
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
326
Entrez Gene ID
326
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
326
Ensembl gene ID
ENSG00000160224
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000160224
Ensembl transcript ID
ENST00000530812
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000160224
ENST00000291582
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000160224
ENST00000337909
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000160224
ENST00000397994
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000160224
ENST00000527919
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000160224
HGNC gene symbol
AIRE
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
326
HGNC ID
360
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
326
OMIM ID
607358
1 reference
stated in
Online Mendelian Inheritance in Man
retrieved
19 August 2019
UMLS CUI
C1412304
1 reference
based on heuristic
inferred by common HGNC mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
15 June 2023
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