| Ectodysplasin A2 receptor | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | EDA2R; EDA-A2R; EDAA2R; TNFRSF27; XEDAR | ||||||||||||
| External IDs | OMIM: 300276 MGI: 2442860 HomoloGene: 11033 GeneCards: EDA2R Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 60401 | 245527 | |||||||||||
| Ensembl | ENSG00000131080 | ENSMUSG00000034457 | |||||||||||
| UniProt | Q9HAV5 | Q3KP88 | |||||||||||
| RefSeq (mRNA) | NM_001199687.2 | NM_175540 | |||||||||||
| RefSeq (protein) | NP_001186616.1 | NP_780749 | |||||||||||
| Location (UCSC) | Chr X: 65.82 – 65.86 Mb |
Chr X: 94.53 – 94.57 Mb |
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| PubMed search | [1] | [2] | |||||||||||
Tumor necrosis factor receptor superfamily member 27 is a protein that in humans is encoded by the EDA2R gene.[1][2]
EDA-A1 and EDA-A2 are two isoforms of ectodysplasin that are encoded by the anhidrotic ectodermal dysplasia (EDA) gene. Mutations in EDA give rise to a clinical syndrome characterized by loss of hair, sweat glands, and teeth. The protein encoded by this gene specifically binds to EDA-A2 isoform. This protein is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains 3 cysteine-rich repeats and a single transmembrane domain but lacks an N-terminal signal peptide. Multiple alternatively spliced transcript variants have been found for this gene, but some variants lack sufficient support.[2]
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