EDAR: Difference between revisions

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(Neodop moved page EDAR to Ectodysplasin A receptor: Official protein name.)
 
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#REDIRECT [[Ectodysplasin A receptor]]
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Ectodysplasin A receptor
| HGNCid = 2895
| Symbol = EDAR
| AltSymbols =; DL; ED1R; ED3; ED5; EDA-A1R; EDA1R; EDA3
| OMIM = 604095
| ECnumber = 
| Homologene = 7699
| MGIid = 1343498
| GeneAtlas_image1 = PBB_GE_EDAR_220048_at_tn.png
| Function = {{GNF_GO|id=GO:0004888 |text = transmembrane receptor activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006915 |text = apoptosis}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0008544 |text = epidermis development}} {{GNF_GO|id=GO:0030154 |text = cell differentiation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 10913
    | Hs_Ensembl = ENSG00000135960
    | Hs_RefseqProtein = NP_071731
    | Hs_RefseqmRNA = NM_022336
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 2
    | Hs_GenLoc_start = 108877366
    | Hs_GenLoc_end = 108972260
    | Hs_Uniprot = Q9UNE0
    | Mm_EntrezGene = 13608
    | Mm_Ensembl = 
    | Mm_RefseqmRNA = NM_010100
    | Mm_RefseqProtein = NP_034230
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
'''Ectodysplasin A receptor''', also known as '''EDAR''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: EDAR ectodysplasin A receptor| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10913| accessdate = }}</ref>
 
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==References==
{{reflist|2}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal  | author=Thesleff I, Mikkola ML |title=Death receptor signaling giving life to ectodermal organs. |journal=Sci. STKE |volume=2002 |issue= 131 |pages= PE22 |year= 2002 |pmid= 11997580 |doi= 10.1126/stke.2002.131.pe22 }}
*{{cite journal  | author=Aswegan AL, Josephson KD, Mowbray R, ''et al.'' |title=Autosomal dominant hypohidrotic ectodermal dysplasia in a large family. |journal=Am. J. Med. Genet. |volume=72 |issue= 4 |pages= 462-7 |year= 1997 |pmid= 9375732 |doi=  }}
*{{cite journal  | author=Ho L, Williams MS, Spritz RA |title=A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13. |journal=Am. J. Hum. Genet. |volume=62 |issue= 5 |pages= 1102-6 |year= 1998 |pmid= 9545409 |doi=  }}
*{{cite journal  | author=Monreal AW, Ferguson BM, Headon DJ, ''et al.'' |title=Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. |journal=Nat. Genet. |volume=22 |issue= 4 |pages= 366-9 |year= 1999 |pmid= 10431241 |doi= 10.1038/11937 }}
*{{cite journal  | author=Kumar A, Eby MT, Sinha S, ''et al.'' |title=The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A. |journal=J. Biol. Chem. |volume=276 |issue= 4 |pages= 2668-77 |year= 2001 |pmid= 11035039 |doi= 10.1074/jbc.M008356200 }}
*{{cite journal  | author=Yan M, Wang LC, Hymowitz SG, ''et al.'' |title=Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors. |journal=Science |volume=290 |issue= 5491 |pages= 523-7 |year= 2000 |pmid= 11039935 |doi=  }}
*{{cite journal  | author=Elomaa O, Pulkkinen K, Hannelius U, ''et al.'' |title=Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein. |journal=Hum. Mol. Genet. |volume=10 |issue= 9 |pages= 953-62 |year= 2001 |pmid= 11309369 |doi=  }}
*{{cite journal  | author=Koppinen P, Pispa J, Laurikkala J, ''et al.'' |title=Signaling and subcellular localization of the TNF receptor Edar. |journal=Exp. Cell Res. |volume=269 |issue= 2 |pages= 180-92 |year= 2001 |pmid= 11570810 |doi= 10.1006/excr.2001.5331 }}
*{{cite journal  | author=Headon DJ, Emmal SA, Ferguson BM, ''et al.'' |title=Gene defect in ectodermal dysplasia implicates a death domain adapter in development. |journal=Nature |volume=414 |issue= 6866 |pages= 913-6 |year= 2002 |pmid= 11780064 |doi= 10.1038/414913a }}
*{{cite journal  | author=Yan M, Zhang Z, Brady JR, ''et al.'' |title=Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice. |journal=Curr. Biol. |volume=12 |issue= 5 |pages= 409-13 |year= 2002 |pmid= 11882293 |doi=  }}
*{{cite journal  | author=Sinha SK, Zachariah S, Quiñones HI, ''et al.'' |title=Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor. |journal=J. Biol. Chem. |volume=277 |issue= 47 |pages= 44953-61 |year= 2003 |pmid= 12270937 |doi= 10.1074/jbc.M207923200 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Shu H, Chen S, Bi Q, ''et al.'' |title=Identification of phosphoproteins and their phosphorylation sites in the WEHI-231 B lymphoma cell line. |journal=Mol. Cell Proteomics |volume=3 |issue= 3 |pages= 279-86 |year= 2004 |pmid= 14729942 |doi= 10.1074/mcp.D300003-MCP200 }}
*{{cite journal  | author=Zhang Z, Henzel WJ |title=Signal peptide prediction based on analysis of experimentally verified cleavage sites. |journal=Protein Sci. |volume=13 |issue= 10 |pages= 2819-24 |year= 2005 |pmid= 15340161 |doi= 10.1110/ps.04682504 }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Hashimoto T, Cui CY, Schlessinger D |title=Repertoire of mouse ectodysplasin-A (EDA-A) isoforms. |journal=Gene |volume=371 |issue= 1 |pages= 42-51 |year= 2006 |pmid= 16423472 |doi= 10.1016/j.gene.2005.11.003 }}
*{{cite journal  | author=Chassaing N, Bourthoumieu S, Cossee M, ''et al.'' |title=Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. |journal=Hum. Mutat. |volume=27 |issue= 3 |pages= 255-9 |year= 2006 |pmid= 16435307 |doi= 10.1002/humu.20295 }}
*{{cite journal  | author=Tariq M, Wasif N, Ahmad W |title=A novel deletion mutation in the EDAR gene in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia. |journal=Br. J. Dermatol. |volume=157 |issue= 1 |pages= 207-9 |year= 2007 |pmid= 17501952 |doi= 10.1111/j.1365-2133.2007.07949.x }}
}}
{{refend}}
 
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