Entrez 60401 | Ensembl ENSG00000131080 | |
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Aliases EDA2R, EDA-A2R, EDAA2R, TNFRSF27, XEDAR, ectodysplasin A2 receptor External IDs MGI: 2442860 HomoloGene: 11033 GeneCards: EDA2R |
Tumor necrosis factor receptor superfamily member 27 is a protein that in humans is encoded by the EDA2R gene.
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.
References
Ectodysplasin A2 receptor Wikipedia(Text) CC BY-SA