Ectodysplasin A2 receptor

{{Short description|Protein-coding gene in humans}} {{Infobox_gene}} '''Tumor necrosis factor receptor superfamily member 27''' is a protein that in humans is encoded by the ''EDA2R'' gene.<ref name="pmid11039935">{{cite journal | vauthors = Yan M, Wang LC, Hymowitz SG, Schilbach S, Lee J, Goddard A, de Vos AM, Gao WQ, Dixit VM | 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 |date=Oct 2000 | pmid = 11039935 | doi =10.1126/science.290.5491.523 | bibcode = 2000Sci...290..523Y }}</ref><ref name="entrez_ 60401">{{cite web | title = Entrez Gene: EDA2R ectodysplasin A2 receptor| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=60401}}</ref>

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.<ref name="entrez_ 60401"/>

==References== {{reflist}}

==Further reading== {{refbegin | 2}} *{{cite journal | vauthors=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 |url=https://zenodo.org/record/1258995 }} *{{cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |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 | pmc=528928 |doi= 10.1101/gr.2596504 |display-authors=etal}} *{{cite journal | vauthors=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 |doi-access= free }} *{{cite journal | vauthors=Clark HF, Gurney AL, Abaya E |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 | pmc=403697 |doi= 10.1101/gr.1293003 |display-authors=etal}} *{{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |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 | pmc=139241 |doi= 10.1073/pnas.242603899 |bibcode=2002PNAS...9916899M |display-authors=etal|doi-access=free }} *{{cite journal | vauthors=Sinha SK, Zachariah S, Quiñones HI |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 |display-authors=etal|doi-access=free }} *{{cite journal | vauthors=Naito A, Yoshida H, Nishioka E |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 | pmc=124373 |doi= 10.1073/pnas.132636999 |bibcode=2002PNAS...99.8766N |display-authors=etal|doi-access=free }} {{refend}}

==External links== * {{MeshName|EDA2R+protein,+human}}

Category:TNF receptor family