Ectodysplasin A2 receptor

Ectodysplasin A2 receptor
Identifiers
Symbols	EDA2R; EDA-A2R; EDAA2R; TNFRSF27; XEDAR
External IDs	OMIM: 300276 MGI: 2442860 HomoloGene: 11033 GeneCards: EDA2R Gene
Gene Ontology Molecular function • receptor activity • tumor necrosis factor-activated receptor activity • protein binding Cellular component • integral to plasma membrane • membrane • integral to membrane Biological process • epidermis development • embryo development • cell differentiation • tumor necrosis factor-mediated signaling pathway • positive regulation of JNK cascade • positive regulation of NF-kappaB transcription factor activity Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	60401	245527
Ensembl	ENSG00000131080	ENSMUSG00000034457
UniProt	Q9HAV5	Q8BX35
RefSeq (mRNA)	NM_001199687.2	NM_001161432.1
RefSeq (protein)	NP_001186616.1	NP_001154904.1
Location (UCSC)	Chr X: 65.82 – 65.86 Mb	Chr X: 94.53 – 94.57 Mb
PubMed search	[1]	[2]

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.

Further reading

• Hashimoto T, Cui CY, Schlessinger D (2006). "Repertoire of mouse ectodysplasin-A (EDA-A) isoforms.". Gene 371 (1): 42–51. doi:10.1016/j.gene.2005.11.003. PMID 16423472. 
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• Sinha SK, Chaudhary PM (2004). "Induction of apoptosis by X-linked ectodermal dysplasia receptor via a caspase 8-dependent mechanism.". J. Biol. Chem. 279 (40): 41873–81. doi:10.1074/jbc.M407363200. PMID 15280356. 
• Clark HF, Gurney AL, Abaya E, et al. (2003). "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. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=403697. 
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Sinha SK, Zachariah S, Quiñones HI, et al. (2003). "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. doi:10.1074/jbc.M207923200. PMID 12270937. 
• Naito A, Yoshida H, Nishioka E, et al. (2002). "TRAF6-deficient mice display hypohidrotic ectodermal dysplasia.". Proc. Natl. Acad. Sci. U.S.A. 99 (13): 8766–71. doi:10.1073/pnas.132636999. PMC 124373. PMID 12060722. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=124373. 

External links

• MeSH EDA2R+protein,+human