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 • intracellular • integral component of plasma membrane • integral component of membrane Biological process • multicellular organismal development • epidermis development • ectodermal cell differentiation • tumor necrosis factor-mediated signaling pathway • positive regulation of JNK cascade • positive regulation of NF-kappaB transcription factor activity • intrinsic apoptotic signaling pathway by p53 class mediator 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	NM_001161432
RefSeq (protein)	NP_001186616	NP_001154904
Location (UCSC)	Chr X: 66.6 – 66.64 Mb	Chr X: 97.33 – 97.38 Mb
PubMed search

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

1. Yan M, Wang LC, Hymowitz SG, Schilbach S, Lee J, Goddard A, de Vos AM, Gao WQ, Dixit VM (Oct 2000). "Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors". Science 290 (5491): 523–7. doi:10.1126/science.290.5491.523. PMID 11039935.
2. "Entrez Gene: EDA2R ectodysplasin A2 receptor".

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.
• 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.
• 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.
• 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.

External links

• EDA2R protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)