Biology:Ectodysplasin A2 receptor
 Generic protein structure example |
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]
References
- ↑ "Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors". Science 290 (5491): 523–7. Oct 2000. doi:10.1126/science.290.5491.523. PMID 11039935. Bibcode: 2000Sci...290..523Y.
- ↑ 2.0 2.1 "Entrez Gene: EDA2R ectodysplasin A2 receptor". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=60401.
Further reading
- "Repertoire of mouse ectodysplasin-A (EDA-A) isoforms.". Gene 371 (1): 42–51. 2006. doi:10.1016/j.gene.2005.11.003. PMID 16423472. https://zenodo.org/record/1258995.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Induction of apoptosis by X-linked ectodermal dysplasia receptor via a caspase 8-dependent mechanism.". J. Biol. Chem. 279 (40): 41873–81. 2004. doi:10.1074/jbc.M407363200. PMID 15280356.
- "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.". Genome Res. 13 (10): 2265–70. 2003. doi:10.1101/gr.1293003. PMID 12975309.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor.". J. Biol. Chem. 277 (47): 44953–61. 2003. doi:10.1074/jbc.M207923200. PMID 12270937.
- "TRAF6-deficient mice display hypohidrotic ectodermal dysplasia.". Proc. Natl. Acad. Sci. U.S.A. 99 (13): 8766–71. 2002. doi:10.1073/pnas.132636999. PMID 12060722. Bibcode: 2002PNAS...99.8766N.
External links
- EDA2R+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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