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.[6]
ReferencesEdit
^ abcGRCh38: Ensembl release 89: ENSG00000131080 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000034457 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^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. Bibcode:2000Sci...290..523Y. doi:10.1126/science.290.5491.523. PMID 11039935.
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. PMC528928. 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. PMC403697. 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. 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. Bibcode:2002PNAS...99.8766N. doi:10.1073/pnas.132636999. PMC124373. PMID 12060722.
ectodysplasin, receptor, tumor, necrosis, factor, receptor, superfamily, member, protein, that, humans, encoded, eda2r, gene, eda2ridentifiersaliaseseda2r, edaa2r, tnfrsf27, xedar, ectodysplasin, receptorexternal, idsomim, 300276, 2442860, homologene, 11033, g. Tumor necrosis factor receptor superfamily member 27 is a protein that in humans is encoded by the EDA2R gene 5 6 EDA2RIdentifiersAliasesEDA2R EDA A2R EDAA2R TNFRSF27 XEDAR ectodysplasin A2 receptorExternal IDsOMIM 300276 MGI 2442860 HomoloGene 11033 GeneCards EDA2RGene location Human Chr X chromosome human 1 BandXq12Start66 595 637 bp 1 End66 639 298 bp 1 Gene location Mouse Chr X chromosome mouse 2 BandX X C3Start96 377 446 bp 2 End96 420 822 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed instromal cell of endometriumright uterine tubeascending aortasmooth muscle tissueleft adrenal glandcanal of the cervixAchilles tendonleft lobe of thyroid glandright coronary arteryleft coronary arteryTop expressed intemporal muscleanklegastrocnemius muscletriceps brachii musclequadriceps femoris musclesoleus muscletibialis anterior musclevastus lateralis muscleintercostal musclethoracic diaphragmMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionprotein binding tumor necrosis factor activated receptor activity signaling receptor activityCellular componentintegral component of membrane integral component of plasma membrane intracellular anatomical structure membrane plasma membraneBiological processmulticellular organism development cell differentiation tumor necrosis factor mediated signaling pathway positive regulation of JNK cascade positive regulation of NF kappaB transcription factor activity ectodermal cell differentiation intrinsic apoptotic signaling pathway by p53 class mediator epidermis development tissue development positive regulation of I kappaB kinase NF kappaB signalingSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez60401245527EnsemblENSG00000131080ENSMUSG00000034457UniProtQ9HAV5Q8BX35RefSeq mRNA NM 001199687NM 001199688NM 001199689NM 001242310NM 021783NM 001324199NM 001324201NM 001324202NM 001324204NM 001324205NM 001324206NM 001161432NM 001161433NM 175540RefSeq protein NP 001186616NP 001229239NP 001311128NP 001311130NP 001311131NP 001311133NP 001311134NP 001311135NP 068555NP 001154904NP 001154905NP 780749Location UCSC Chr X 66 6 66 64 MbChr X 96 38 96 42 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseEDA 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 6 References Edit a b c GRCh38 Ensembl release 89 ENSG00000131080 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000034457 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine 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 Bibcode 2000Sci 290 523Y doi 10 1126 science 290 5491 523 PMID 11039935 a b Entrez Gene EDA2R ectodysplasin A2 receptor Further reading EditHashimoto 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 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 PMID 12477932 Sinha SK Zachariah S Quinones 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 Bibcode 2002PNAS 99 8766N doi 10 1073 pnas 132636999 PMC 124373 PMID 12060722 External links EditEDA2R protein human at the U S National Library of Medicine Medical Subject Headings MeSH This article on a gene on the human X chromosome and or its associated protein is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Ectodysplasin A2 receptor amp oldid 1168064010, wikipedia, wiki, book, books, library,
