EDAR
Ectodysplasin A receptor | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Identifiers | |||||||||||
Symbols | EDAR ; DL; ED1R; ED3; ED5; EDA-A1R; EDA1R; EDA3 | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 7699 | ||||||||||
| |||||||||||
RNA expression pattern | |||||||||||
More reference expression data | |||||||||||
Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
Ectodysplasin A receptor, also known as EDAR, is a human gene.[1]
References
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.
This protein-related article is a stub. You can help Wikipedia by expanding it. |