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| # | Reference Title | Reference Citation |
| 1. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 2. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 3. | Aire deficiency causes increased susceptibility to streptozotocin-induced murine type 1 diabetes. | Hassler S, etal., Scand J Immunol. 2008 Jun;67(6):569-80. Epub 2008 Apr 8. |
| 4. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 5. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 6. | Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy-like Autoimmune Disease. | Ossart J, etal., J Immunol. 2018 Aug 1;201(3):874-887. doi: 10.4049/jimmunol.1701318. Epub 2018 Jun 29. |
| 7. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 8. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 9. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 10. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 11. | Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1). | Wang CY, etal., Hum Genet. 1998 Dec;103(6):681-5. |
| PMID:11156688 | PMID:11274163 | PMID:11533054 | PMID:11854172 | PMID:15712268 | PMID:17599412 | PMID:18292755 | PMID:19015306 | PMID:19446523 | PMID:19923453 | PMID:20185822 | PMID:23382543 |
| PMID:23993652 | PMID:26084028 | PMID:28540407 |
| Aire (Rattus norvegicus - Norway rat) |
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| AIRE (Homo sapiens - human) |
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| Aire (Mus musculus - house mouse) |
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| Aire (Chinchilla lanigera - long-tailed chinchilla) |
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| AIRE (Pan paniscus - bonobo/pygmy chimpanzee) |
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| AIRE (Canis lupus familiaris - dog) |
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| Aire (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| AIRE (Sus scrofa - pig) |
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| AIRE (Chlorocebus sabaeus - green monkey) |
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| Aire (Heterocephalus glaber - naked mole-rat) |
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| Aire (Rattus rattus - black rat) |
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.
Variants in Aire
204 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| D20Rat67 |
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| D20Got10 |
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| D20Ztm3 |
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alimentary part of gastrointestinal system
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 7 | 12 | 31 | 28 | 32 | 17 | 21 | 17 | 2 | 76 | 33 | 29 | 19 | 31 | 15 | 2 | 2 |
| RefSeq Transcripts | NM_001106379 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001434617 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006256247 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017601597 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017601598 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017601599 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017601600 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017601601 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017601602 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063279042 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063279043 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063279044 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063279045 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063279046 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063279047 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063279048 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063279049 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC109383 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| CH473988 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000020 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000001611 ⟹ ENSRNOP00000001611 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000106293 ⟹ ENSRNOP00000082176 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000113259 ⟹ ENSRNOP00000094625 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | NM_001106379 ⟹ NP_001099849 | ||||||||||||||||||||||||||||
| RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_006256247 ⟹ XP_006256309 | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_017601599 ⟹ XP_017457088 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_017601601 ⟹ XP_017457090 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_063279042 ⟹ XP_063135112 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063279043 ⟹ XP_063135113 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063279044 ⟹ XP_063135114 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063279045 ⟹ XP_063135115 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063279046 ⟹ XP_063135116 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063279047 ⟹ XP_063135117 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XM_063279048 ⟹ XP_063135118 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XM_063279049 ⟹ XP_063135119 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Protein RefSeqs | NP_001099849 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001421546 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006256309 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_017457088 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_017457090 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063135112 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063135113 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063135114 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063135115 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063135116 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063135117 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063135118 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063135119 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | EDL97063 | (Get FASTA) | NCBI Sequence Viewer |
| EDL97064 | (Get FASTA) | NCBI Sequence Viewer | |
| EDL97065 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000001611 | ||
| ENSRNOP00000001611.4 | |||
| ENSRNOP00000082176 | |||
| ENSRNOP00000082176.1 | |||
| ENSRNOP00000094625 | |||
| ENSRNOP00000094625.1 |
| RefSeq Acc Id: | NP_001099849 ⟸ NM_001106379 |
| - UniProtKB: | A6JK47 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_006256309 ⟸ XM_006256247 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
| RefSeq Acc Id: | XP_017457088 ⟸ XM_017601599 |
| - Peptide Label: | isoform X8 |
| - UniProtKB: | A0A8I6AL71 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_017457090 ⟸ XM_017601601 |
| - Peptide Label: | isoform X10 |
| - UniProtKB: | A6JK49 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000001611 ⟸ ENSRNOT00000001611 |
| Ensembl Acc Id: | ENSRNOP00000082176 ⟸ ENSRNOT00000106293 |
| Ensembl Acc Id: | ENSRNOP00000094625 ⟸ ENSRNOT00000113259 |
| RefSeq Acc Id: | XP_063135114 ⟸ XM_063279044 |
| - Peptide Label: | isoform X4 |
| - UniProtKB: | A0A8I5ZTP2 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063135112 ⟸ XM_063279042 |
| - Peptide Label: | isoform X2 |
| RefSeq Acc Id: | XP_063135115 ⟸ XM_063279045 |
| - Peptide Label: | isoform X5 |
| RefSeq Acc Id: | XP_063135116 ⟸ XM_063279046 |
| - Peptide Label: | isoform X6 |
| - UniProtKB: | A6JK48 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063135113 ⟸ XM_063279043 |
| - Peptide Label: | isoform X3 |
| RefSeq Acc Id: | XP_063135117 ⟸ XM_063279047 |
| - Peptide Label: | isoform X7 |
| RefSeq Acc Id: | XP_063135118 ⟸ XM_063279048 |
| - Peptide Label: | isoform X9 |
| RefSeq Acc Id: | XP_063135119 ⟸ XM_063279049 |
| - Peptide Label: | isoform X11 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-D3ZV49-F1-model_v2 | AlphaFold | D3ZV49 | 1-547 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1311139 | AgrOrtholog |
| BioCyc Gene | G2FUF-4274 | BioCyc |
| Ensembl Genes | ENSRNOG00000001213 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000001611 | ENTREZGENE |
| ENSRNOT00000001611.6 | UniProtKB/TrEMBL | |
| ENSRNOT00000106293 | ENTREZGENE | |
| ENSRNOT00000106293.2 | UniProtKB/TrEMBL | |
| ENSRNOT00000113259 | ENTREZGENE | |
| ENSRNOT00000113259.2 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 3.10.390.10 | UniProtKB/TrEMBL |
| 3.30.40.10 | UniProtKB/TrEMBL | |
| InterPro | AIRE | UniProtKB/TrEMBL |
| AIRE_PHD2 | UniProtKB/TrEMBL | |
| SAND_dom | UniProtKB/TrEMBL | |
| SAND_dom-like | UniProtKB/TrEMBL | |
| Sp100 | UniProtKB/TrEMBL | |
| Sp110/Sp140/Sp140L-like | UniProtKB/TrEMBL | |
| Zinc_finger_PHD-type_CS | UniProtKB/TrEMBL | |
| Znf_FYVE_PHD | UniProtKB/TrEMBL | |
| Znf_PHD | UniProtKB/TrEMBL | |
| Znf_PHD-finger | UniProtKB/TrEMBL | |
| Znf_RING/FYVE/PHD | UniProtKB/TrEMBL | |
| KEGG Report | rno:294328 | UniProtKB/TrEMBL |
| NCBI Gene | 294328 | ENTREZGENE |
| PANTHER | AUTOIMMUNE REGULATOR | UniProtKB/TrEMBL |
| NUCLEAR BODY PROTEIN SP140 | UniProtKB/TrEMBL | |
| RIKEN CDNA A630001G21 GENE | UniProtKB/TrEMBL | |
| Pfam | PHD | UniProtKB/TrEMBL |
| SAND | UniProtKB/TrEMBL | |
| Sp100 | UniProtKB/TrEMBL | |
| PhenoGen | Aire | PhenoGen |
| PRINTS | AIREGULATOR | UniProtKB/TrEMBL |
| PROSITE | HSR | UniProtKB/TrEMBL |
| SAND | UniProtKB/TrEMBL | |
| ZF_PHD_1 | UniProtKB/TrEMBL | |
| ZF_PHD_2 | UniProtKB/TrEMBL | |
| RatGTEx | ENSRNOG00000001213 | RatGTEx |
| SMART | PHD | UniProtKB/TrEMBL |
| SAND | UniProtKB/TrEMBL | |
| Superfamily-SCOP | FYVE_PHD_ZnF | UniProtKB/TrEMBL |
| SAND_like | UniProtKB/TrEMBL | |
| UniProt | A0A8I5ZTP2 | ENTREZGENE, UniProtKB/TrEMBL |
| A0A8I6AL71 | ENTREZGENE, UniProtKB/TrEMBL | |
| A6JK47 | ENTREZGENE, UniProtKB/TrEMBL | |
| A6JK48 | ENTREZGENE, UniProtKB/TrEMBL | |
| A6JK49 | ENTREZGENE, UniProtKB/TrEMBL | |
| D3ZV49 | ENTREZGENE, UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2008-09-26 | Aire | autoimmune regulator | Aire | autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2008-04-30 | Aire | autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) | Aire_predicted | autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) (predicted) | 'predicted' is removed | 2292626 | APPROVED |
| 2005-01-12 | Aire_predicted | autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) (predicted) | Symbol and Name status set to approved | 70820 | APPROVED |