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| # | Reference Title | Reference Citation |
| 1. | Role of ectodysplasin signalling in middle ear and nasal pathology in rat and mouse models of hypohidrotic ectodermal dysplasia. | Del-Pozo J, etal., Dis Model Mech. 2019 Apr 25;12(4). pii: 12/4/dmm037804. doi: 10.1242/dmm.037804. |
| 2. | 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. |
| 3. | X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. | Kere J, etal., Nat Genet. 1996 Aug;13(4):409-16. |
| 4. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 5. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 6. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 7. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 8. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| PMID:544312 | PMID:4561716 | PMID:5893447 | PMID:10534613 | PMID:10610025 | PMID:11039935 | PMID:12629675 | PMID:15973734 | PMID:17673451 | PMID:18508042 | PMID:18689798 | PMID:19619491 |
| PMID:26646413 | PMID:27144394 | PMID:35964664 |
| Eda (Rattus norvegicus - Norway rat) |
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| EDA (Homo sapiens - human) |
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| Eda (Mus musculus - house mouse) |
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| Eda (Chinchilla lanigera - long-tailed chinchilla) |
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| EDA (Pan paniscus - bonobo/pygmy chimpanzee) |
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| EDA (Canis lupus familiaris - dog) |
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| Eda (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| EDA (Sus scrofa - pig) |
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| EDA (Chlorocebus sabaeus - green monkey) |
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| Eda (Heterocephalus glaber - naked mole-rat) |
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| Eda (Rattus rattus - black rat) |
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.
Variants in Eda
925 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 |
| DXGot192 |
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| AU049644 |
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| PMC24264P3 |
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| PMC24264P4 |
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alimentary part of gastrointestinal system
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appendage
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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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musculoskeletal system
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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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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 67 | 152 | 91 | 90 | 59 | 32 | 59 | 6 | 295 | 132 | 11 | 131 | 80 | 92 | 31 | 13 | 13 |
| RefSeq Transcripts | NM_001305243 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_006257111 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006257112 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008773301 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017601968 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017601969 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039099598 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_228582 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | CH473966 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| JAXUCZ010000021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| LN874416 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000075980 ⟹ ENSRNOP00000067997 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000076425 ⟹ ENSRNOP00000067898 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000076977 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_001305243 ⟹ NP_001292172 | ||||||||||||||||||||
| RefSeq Status: | PROVISIONAL | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_006257111 ⟹ XP_006257173 | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_006257112 ⟹ XP_006257174 | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_008773301 ⟹ XP_008771523 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_039099598 ⟹ XP_038955526 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_228582 ⟹ XP_228582 | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
| Protein RefSeqs | NP_001292172 | (Get FASTA) | NCBI Sequence Viewer |
| XP_006257173 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006257174 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_008771523 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038955526 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_228582 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | CTQ86181 | (Get FASTA) | NCBI Sequence Viewer |
| EDL95941 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000067898 | ||
| ENSRNOP00000067898.2 | |||
| ENSRNOP00000067997.2 |
| RefSeq Acc Id: | XP_228582 ⟸ XM_228582 |
| - Peptide Label: | isoform X3 |
| - UniProtKB: | A0A096MJ56 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_006257174 ⟸ XM_006257112 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | A0A096MJ56 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_006257173 ⟸ XM_006257111 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A0A0U5J6T2 (UniProtKB/TrEMBL), A0A096MJ56 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_008771523 ⟸ XM_008773301 |
| - Peptide Label: | isoform X4 |
| - UniProtKB: | A0A096MJ56 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | NP_001292172 ⟸ NM_001305243 |
| - UniProtKB: | A0A096MIW0 (UniProtKB/TrEMBL), A0A096MJ56 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000067997 ⟸ ENSRNOT00000075980 |
| Ensembl Acc Id: | ENSRNOP00000067898 ⟸ ENSRNOT00000076425 |
| RefSeq Acc Id: | XP_038955526 ⟸ XM_039099598 |
| - Peptide Label: | isoform X5 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-A0A096MJ56-F1-model_v2 | AlphaFold | A0A096MJ56 | 1-378 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13701866 | ||||||||
| Promoter ID: | EPDNEW_R12386 | ||||||||
| Type: | single initiation site | ||||||||
| Name: | Eda_1 | ||||||||
| Description: | ectodysplasin-A | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
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| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1563178 | AgrOrtholog |
| BioCyc Gene | G2FUF-2141 | BioCyc |
| Ensembl Genes | ENSRNOG00000032208 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000075980.4 | UniProtKB/TrEMBL |
| ENSRNOT00000076425 | ENTREZGENE | |
| ENSRNOT00000076425.3 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 2.60.120.40 | UniProtKB/TrEMBL |
| InterPro | TNF_family | UniProtKB/TrEMBL |
| TNF_Ligand_Superfamily | UniProtKB/TrEMBL | |
| Tumour_necrosis_fac-like | UniProtKB/TrEMBL | |
| KEGG Report | rno:302424 | UniProtKB/TrEMBL |
| NCBI Gene | 302424 | ENTREZGENE |
| PANTHER | ECTODYSPLASIN-A | UniProtKB/TrEMBL |
| PROTEIN EIGER | UniProtKB/TrEMBL | |
| Pfam | TNF | UniProtKB/TrEMBL |
| PhenoGen | Eda | PhenoGen |
| PROSITE | TNF_2 | UniProtKB/TrEMBL |
| RatGTEx | ENSRNOG00000032208 | RatGTEx |
| Superfamily-SCOP | TNF_like | UniProtKB/TrEMBL |
| UniProt | A0A096MIW0 | ENTREZGENE, UniProtKB/TrEMBL |
| A0A096MJ56 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0A0U5J6T2 | ENTREZGENE, UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2008-03-06 | Eda | ectodysplasin-A | RGD1563178_predicted | similar to ectodysplasin-A isoform Ta A (predicted) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2006-03-07 | RGD1563178_predicted | similar to ectodysplasin-A isoform Ta A (predicted) | LOC302424 | similar to ectodysplasin-A isoform Ta A | Symbol and Name status set to approved | 1299863 | APPROVED |
| 2006-02-09 | LOC302424 | similar to ectodysplasin-A isoform Ta A | Symbol and Name status set to provisional | 70820 | PROVISIONAL |