EDA2R

EDA2R

Ectodysplasin A2 receptor, also known as EDA2R, is a human gene.cite web | title = Entrez Gene: EDA2R ectodysplasin A2 receptor| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=60401| accessdate = ]

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

Further reading

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citations =
*cite journal | author=Hashimoto T, Cui CY, Schlessinger D |title=Repertoire of mouse ectodysplasin-A (EDA-A) isoforms. |journal=Gene |volume=371 |issue= 1 |pages= 42-51 |year= 2006 |pmid= 16423472 |doi= 10.1016/j.gene.2005.11.003
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Sinha SK, Chaudhary PM |title=Induction of apoptosis by X-linked ectodermal dysplasia receptor via a caspase 8-dependent mechanism. |journal=J. Biol. Chem. |volume=279 |issue= 40 |pages= 41873-81 |year= 2004 |pmid= 15280356 |doi= 10.1074/jbc.M407363200
*cite journal | author=Clark HF, Gurney AL, Abaya E, "et al." |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265-70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Sinha SK, Zachariah S, Quiñones HI, "et al." |title=Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor. |journal=J. Biol. Chem. |volume=277 |issue= 47 |pages= 44953-61 |year= 2003 |pmid= 12270937 |doi= 10.1074/jbc.M207923200
*cite journal | author=Naito A, Yoshida H, Nishioka E, "et al." |title=TRAF6-deficient mice display hypohidrotic ectodermal dysplasia. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 13 |pages= 8766-71 |year= 2002 |pmid= 12060722 |doi= 10.1073/pnas.132636999
*cite journal | author=Yan M, Wang LC, Hymowitz SG, "et al." |title=Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors. |journal=Science |volume=290 |issue= 5491 |pages= 523-7 |year= 2000 |pmid= 11039935 |doi=

External links

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