[{"@context":"http:\/\/schema.org\/","@type":"BlogPosting","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/sh3tc2-wikipedia\/#BlogPosting","mainEntityOfPage":"https:\/\/wiki.edu.vn\/en\/wiki24\/sh3tc2-wikipedia\/","headline":"SH3TC2 – Wikipedia","name":"SH3TC2 – Wikipedia","description":"From Wikipedia, the free encyclopedia Protein-coding gene in the species Homo sapiens SH3 domain and tetratricopeptide repeats-containing protein 2 is","datePublished":"2015-09-05","dateModified":"2015-09-05","author":{"@type":"Person","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/#Person","name":"lordneo","url":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/","image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"Enzyklop\u00e4die","logo":{"@type":"ImageObject","@id":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","url":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/www.wikimedia.org\/static\/images\/wmf-logo.png","url":"https:\/\/www.wikimedia.org\/static\/images\/wmf-logo.png","height":"101","width":"135"},"url":"https:\/\/wiki.edu.vn\/en\/wiki24\/sh3tc2-wikipedia\/","wordCount":4888,"articleBody":"From Wikipedia, the free encyclopediaProtein-coding gene in the species Homo sapiensSH3 domain and tetratricopeptide repeats-containing protein 2 is a protein that in humans is encoded by the SH3TC2 gene.[5][6] It is believed to be expressed in the Schwann cells that wrap the myelin sheath around nerves.Table of ContentsFunction[edit]Clinical significance[edit]References[edit]Further reading[edit]External links[edit]Function[edit]This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule.[6]The mouse version (orthologue) of SH3TC2 is believed to be expressed in Schwann cells. The tagged protein localizes to the plasma membrane and to the perinuclear endocytic recycling compartment. Mice lacking Sh3tc2 have an abnormal organization of the node of Ranvier consistent with the idea that the protein might have a role in myelination or in axon \u2013 glial cell interactions.[7][8]Clinical significance[edit]Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons.[6]References[edit]^ a b c GRCh38: Ensembl release 89: ENSG00000169247 – Ensembl, May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000045629 – 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.^ Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Muller-Felber W, Rizzuto N, Fabrizi GM, Stuhrmann M, Rudnik-Schoneborn S, Zuchner S, Michael Schroder J, Buchheim E, Straub V, Klepper J, Huehne K, Rautenstrauss B, Buttner R, Nelis E, Zerres K (Oct 2003). “Mutations in a gene encoding a novel SH3\/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy”. Am J Hum Genet. 73 (5): 1106\u201319. doi:10.1086\/379525. PMC\u00a01180490. PMID\u00a014574644.^ a b c “Entrez Gene: SH3TC2 SH3 domain and tetratricopeptide repeats 2”.^ Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA (April 2010). “Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy”. N. Engl. J. Med. 362 (13): 1181\u201391. doi:10.1056\/NEJMoa0908094. PMC\u00a04036802. PMID\u00a020220177.^ Arnaud E, Zenker J, de Preux Charles AS, Stendel C, Roos A, M\u00e9dard JJ, Tricaud N, Weis J, Suter U, Senderek J, Chrast R (October 2009). “SH3TC2\/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system”. Proc. Natl. Acad. Sci. U.S.A. 106 (41): 17528\u201333. Bibcode:2009PNAS..10617528A. doi:10.1073\/pnas.0905523106. PMC\u00a02765159. PMID\u00a019805030.Further reading[edit]LeGuern E, Guilbot A, Kessali M,  et\u00a0al. (1997). “Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33”. Hum. Mol. Genet. 5 (10): 1685\u20138. doi:10.1093\/hmg\/5.10.1685. PMID\u00a08894708.Hiroi T, Hayashi-Kobayashi N, Nagumo S,  et\u00a0al. (2002). “Identification and characterization of the human serotonin-4 receptor gene promoter”. Biochem. Biophys. Res. Commun. 289 (2): 337\u201344. doi:10.1006\/bbrc.2001.5979. PMID\u00a011716477.Kikuno R, Nagase T, Waki M, Ohara O (2002). “HUGE: a database for human large proteins identified in the Kazusa cDNA sequencing project”. Nucleic Acids Res. 30 (1): 166\u20138. doi:10.1093\/nar\/30.1.166. PMC\u00a099081. PMID\u00a011752282.Nagase T, Kikuno R, Ohara O (2002). “Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins”. DNA Res. 8 (6): 319\u201327. doi:10.1093\/dnares\/8.6.319. PMID\u00a011853319.Strausberg RL, Feingold EA, Grouse LH,  et\u00a0al. (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\u2013903. Bibcode:2002PNAS…9916899M. doi:10.1073\/pnas.242603899. PMC\u00a0139241. PMID\u00a012477932.Ota T, Suzuki Y, Nishikawa T,  et\u00a0al. (2004). “Complete sequencing and characterization of 21,243 full-length human cDNAs”. Nat. Genet. 36 (1): 40\u20135. doi:10.1038\/ng1285. PMID\u00a014702039.Gerhard DS, Wagner L, Feingold EA,  et\u00a0al. (2004). “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)”. Genome Res. 14 (10B): 2121\u20137. doi:10.1101\/gr.2596504. PMC\u00a0528928. PMID\u00a015489334.Wan D, Gong Y, Qin W,  et\u00a0al. (2004). “Large-scale cDNA transfection screening for genes related to cancer development and progression”. Proc. Natl. Acad. Sci. U.S.A. 101 (44): 15724\u20139. Bibcode:2004PNAS..10115724W. doi:10.1073\/pnas.0404089101. PMC\u00a0524842. PMID\u00a015498874.Gooding R, Colomer J, King R,  et\u00a0al. (2006). “A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes”. J. Med. Genet. 42 (12): e69. doi:10.1136\/jmg.2005.034132. PMC\u00a01735969. PMID\u00a016326826.Kimura K, Wakamatsu A, Suzuki Y,  et\u00a0al. (2006). “Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes”. Genome Res. 16 (1): 55\u201365. doi:10.1101\/gr.4039406. PMC\u00a01356129. PMID\u00a016344560.Claramunt R, Sevilla T, Lupo V,  et\u00a0al. (2007). “The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4”. Clin. Genet. 71 (4): 343\u20139. doi:10.1111\/j.1399-0004.2007.00774.x. PMID\u00a017470135. S2CID\u00a020683529.External links[edit]Wikimedia ErrorOur servers are currently under maintenance or experiencing a technical problem.Please try again in a few\u00a0minutes.See the error message at the bottom of this page for more\u00a0information. "},{"@context":"http:\/\/schema.org\/","@type":"BreadcrumbList","itemListElement":[{"@type":"ListItem","position":1,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/#breadcrumbitem","name":"Enzyklop\u00e4die"}},{"@type":"ListItem","position":2,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/sh3tc2-wikipedia\/#breadcrumbitem","name":"SH3TC2 – Wikipedia"}}]}]