EDAR

From Wikipedia, the free encyclopedia

Ectodysplasin A receptor

Identifiers

EDAR; DL; ED1R; ED3; ED5; EDA-A1R; EDA1R; EDA3

External IDs

OMIM: 604095 MGI: 1343498 HomoloGene: 7699

Gene ontology
Molecular Function:	• transmembrane receptor activity • protein binding
Cellular Component:	• membrane • integral to membrane
Biological Process:	• apoptosis • signal transduction • multicellular organismal development • epidermis development • cell differentiation

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_022336 (mRNA)
NP_071731 (protein)

NM_010100 (mRNA)
NP_034230 (protein)

Location

Chr 2: 108.88 - 108.97 Mb

n/a

Pubmed search

[1]

[2]

Ectodysplasin A receptor, also known as EDAR, is a human gene.^[1]

[edit] References

^ Entrez Gene: EDAR ectodysplasin A receptor.

[edit] Further reading

Thesleff I, Mikkola ML (2002). "Death receptor signaling giving life to ectodermal organs.". Sci. STKE 2002 (131): PE22. doi:10.1126/stke.2002.131.pe22. PMID 11997580.
Aswegan AL, Josephson KD, Mowbray R, et al. (1997). "Autosomal dominant hypohidrotic ectodermal dysplasia in a large family.". Am. J. Med. Genet. 72 (4): 462-7. PMID 9375732.
Ho L, Williams MS, Spritz RA (1998). "A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13.". Am. J. Hum. Genet. 62 (5): 1102-6. PMID 9545409.
Monreal AW, Ferguson BM, Headon DJ, et al. (1999). "Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.". Nat. Genet. 22 (4): 366-9. doi:10.1038/11937. PMID 10431241.
Kumar A, Eby MT, Sinha S, et al. (2001). "The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A.". J. Biol. Chem. 276 (4): 2668-77. doi:10.1074/jbc.M008356200. PMID 11035039.
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.
Elomaa O, Pulkkinen K, Hannelius U, et al. (2001). "Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein.". Hum. Mol. Genet. 10 (9): 953-62. PMID 11309369.
Koppinen P, Pispa J, Laurikkala J, et al. (2001). "Signaling and subcellular localization of the TNF receptor Edar.". Exp. Cell Res. 269 (2): 180-92. doi:10.1006/excr.2001.5331. PMID 11570810.
Headon DJ, Emmal SA, Ferguson BM, et al. (2002). "Gene defect in ectodermal dysplasia implicates a death domain adapter in development.". Nature 414 (6866): 913-6. doi:10.1038/414913a. PMID 11780064.
Yan M, Zhang Z, Brady JR, et al. (2002). "Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice.". Curr. Biol. 12 (5): 409-13. PMID 11882293.
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.
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.
Shu H, Chen S, Bi Q, et al. (2004). "Identification of phosphoproteins and their phosphorylation sites in the WEHI-231 B lymphoma cell line.". Mol. Cell Proteomics 3 (3): 279-86. doi:10.1074/mcp.D300003-MCP200. PMID 14729942.
Zhang Z, Henzel WJ (2005). "Signal peptide prediction based on analysis of experimentally verified cleavage sites.". Protein Sci. 13 (10): 2819-24. doi:10.1110/ps.04682504. PMID 15340161.
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.
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.
Chassaing N, Bourthoumieu S, Cossee M, et al. (2006). "Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.". Hum. Mutat. 27 (3): 255-9. doi:10.1002/humu.20295. PMID 16435307.
Tariq M, Wasif N, Ahmad W (2007). "A novel deletion mutation in the EDAR gene in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia.". Br. J. Dermatol. 157 (1): 207-9. doi:10.1111/j.1365-2133.2007.07949.x. PMID 17501952.