| ectodysplasin A2 receptor | OKDB#: 5198 |
| Symbols: | EDA2R | Species: | human | ||
| Synonyms: | XEDAR, EDAA2R, EDA-A2R, TNFRSF27 | Locus: | Xq12 in Homo sapiens | HPMR |
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| General Comment | NCBI Summary: 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. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, May 2011] | ||||
| General function | Receptor | ||||
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| Cellular localization | Plasma membrane | ||||
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| Ovarian function | Early embryo development | ||||
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| Ovarian localization | Oocyte | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | June 5, 2015, 12:35 p.m. | by: |
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| last update: | June 5, 2015, 12:37 p.m. | by: | hsueh email: |
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