EDA2R

From Wikipedia, the free encyclopedia

Ectodysplasin A2 receptor

Identifiers

EDA2R; EDA-A2R; EDAA2R; TNFRSF27; XEDAR

External IDs

OMIM: 300276 MGI: 2442860 HomoloGene: 11033

Gene ontology
Molecular Function:	• receptor activity • tumor necrosis factor receptor activity • protein binding
Cellular Component:	• membrane • integral to membrane
Biological Process:	• epidermis development • embryonic development • cell differentiation • positive regulation of JNK cascade • activation of NF-kappaB transcription factor

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_021783 (mRNA)
NP_068555 (protein)

NM_175540 (mRNA)
NP_780749 (protein)

Location

Chr X: 65.73 - 65.78 Mb

Chr X: 93.54 - 93.58 Mb

Pubmed search

[1]

[2]

Ectodysplasin A2 receptor, also known as EDA2R, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: EDA2R ectodysplasin A2 receptor.

[edit] 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. 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. 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. 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. PMID 12060722.
Yan M, Wang LC, Hymowitz SG, et al. (2000). "Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors.". Science 290 (5491): 523-7. PMID 11039935.