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TRAPPC2
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<h2 id="function">Function</h2> <p>Trafficking protein particle complex subunit 2 is thought to be part of a large multisubunit complex involved in the targeting and fusion of <a href="/facts/Endoplasmic_reticulum/DVbLA7GE">endoplasmic reticulum</a>-to-<a href="/facts/Golgi_apparatus/F91pGb3t">Golgi</a> <a href="/facts/Vesicle_(biology_and_chemistry)/1KjHpjMM">transport vesicles</a> with their acceptor compartment. In addition, the encoded protein can bind <a href="/facts/Alpha-enolase/GXMJBJG5">MBP1</a> and block its transcriptional repression capability.<a class="footnote-ref" id="fnref:4" href="#fn:4"><sup>4</sup></a> </p> <h2 id="genetic-location">Genetic Location</h2> <p>The TRAPPC2 gene is located on the <a href="/facts/X-chromosome/hpJxhSUr">X-chromosome</a> at position 22 between base-pairs 13,712,241 to 13,734,634.<a class="footnote-ref" id="fnref:5" href="#fn:5"><sup>5</sup></a> </p> <h2 id="clinical-significance">Clinical significance</h2> <p>Mutations in this gene are a cause of X-linked spondyloepiphyseal dysplasia tarda (SEDT).<a class="footnote-ref" id="fnref:6" href="#fn:6"><sup>6</sup></a> </p> <h2 id="interactions">Interactions</h2> <p>TRAPPC2 has been shown to <a href="/facts/Protein-protein_interaction/etvm9Wmg">interact</a> with <a href="/facts/Alpha-enolase/GXMJBJG5">Alpha-enolase</a><a class="footnote-ref" id="fnref:7" href="#fn:7"><sup>7</sup></a> and <a href="/facts/CLIC1/fERTnz7k">CLIC1</a>.<a class="footnote-ref" id="fnref:8" href="#fn:8"><sup>8</sup></a> </p> <h2 id="further-reading">Further reading</h2> <ul><li>Shaw MA, Brunetti-Pierri N, Kádasi L, Kovácová V, Van Maldergem L, De Brasi D, et al. (September 2003). "Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4". <i>Clinical Genetics</i>. 64 (3): 235–42. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1034%2Fj.1399-0004.2003.00132.x">10.1034/j.1399-0004.2003.00132.x</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12919139">12919139</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:27897114">27897114</a>.</li> <li>Adams MD, Soares MB, Kerlavage AR, Fields C, Venter JC (August 1993). "Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library". <i>Nature Genetics</i>. 4 (4): 373–80. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fng0893-373">10.1038/ng0893-373</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/8401585">8401585</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:12612300">12612300</a>.</li> <li>Bernard LE, Chitayat D, Weksberg R, Van Allen MI, Langlois S (May 1996). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1050619">"Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia"</a>. <i>Journal of Medical Genetics</i>. 33 (5): 432–4. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1136%2Fjmg.33.5.432">10.1136/jmg.33.5.432</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1050619">1050619</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/8733060">8733060</a>.</li> <li>Bonaldo MF, Lennon G, Soares MB (September 1996). <a href="https://doi.org/10.1101%2Fgr.6.9.791">"Normalization and subtraction: two approaches to facilitate gene discovery"</a>. <i>Genome Research</i>. 6 (9): 791–806. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1101%2Fgr.6.9.791">10.1101/gr.6.9.791</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/8889548">8889548</a>.</li> <li>Gedeon AK, Colley A, Jamieson R, Thompson EM, Rogers J, Sillence D, et al. (August 1999). "Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda". <i>Nature Genetics</i>. 22 (4): 400–4. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2F11976">10.1038/11976</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10431248">10431248</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:5784112">5784112</a>.</li> <li>Gécz J, Hillman MA, Gedeon AK, Cox TC, Baker E, Mulley JC (October 2000). "Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda". <i>Genomics</i>. 69 (2): 242–51. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1006%2Fgeno.2000.6326">10.1006/geno.2000.6326</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11031107">11031107</a>.</li> <li>Ghosh AK, Majumder M, Steele R, White RA, Ray RB (January 2001). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC86643">"A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1"</a>. <i>Molecular and Cellular Biology</i>. 21 (2): 655–62. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1128%2FMCB.21.2.655-662.2001">10.1128/MCB.21.2.655-662.2001</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC86643">86643</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11134351">11134351</a>.</li> <li>Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, et al. (June 2001). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1226125">"The molecular basis of X-linked spondyloepiphyseal dysplasia tarda"</a>. <i>American Journal of Human Genetics</i>. 68 (6): 1386–97. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1086%2F320592">10.1086/320592</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1226125">1226125</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11349230">11349230</a>.</li> <li>Grunebaum E, Arpaia E, MacKenzie JJ, Fitzpatrick J, Ray PN, Roifman CM (June 2001). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734897">"A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree"</a>. <i>Journal of Medical Genetics</i>. 38 (6): 409–11. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1136%2Fjmg.38.6.409">10.1136/jmg.38.6.409</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734897">1734897</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11424925">11424925</a>.</li> <li>Mumm S, Zhang X, Vacca M, D'Esposito M, Whyte MP (August 2001). "The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site". <i>Gene</i>. 273 (2): 285–93. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2FS0378-1119%2801%2900571-6">10.1016/S0378-1119(01)00571-6</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11595175">11595175</a>.</li> <li>Takahashi T, Takahashi I, Tsuchida S, Oyama K, Komatsu M, Saito H, Takada G (April 2002). "An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda". <i>Clinical Genetics</i>. 61 (4): 319–20. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1034%2Fj.1399-0004.2002.610416.x">10.1034/j.1399-0004.2002.610416.x</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12030902">12030902</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:31600967">31600967</a>.</li> <li>Fiedler J, Bittner M, Puhl W, Brenner RE (July 2002). "Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men". <i>Clinical Genetics</i>. 62 (1): 94–5. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1034%2Fj.1399-0004.2002.620114.x">10.1034/j.1399-0004.2002.620114.x</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12123495">12123495</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:35441074">35441074</a>.</li> <li>Gao C, Luo Q, Wang HL, Gao XQ, Fan QT, Wang H, et al. (February 2003). "[Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]". <i>Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics</i>. 20 (1): 15–8. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12579492">12579492</a>.</li> <li>Xiao C, Zhang S, Wang J, Qiu W, Chi L, Li Y, Su Z (April 2003). "A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family". <i>Mutation Research</i>. 525 (1–2): 61–5. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/2003MRFMM.525...61X">2003MRFMM.525...61X</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2Fs0027-5107%2802%2900315-9">10.1016/s0027-5107(02)00315-9</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12650905">12650905</a>.</li> <li>Fan L, Yu W, Zhu X (April 2003). <a href="https://doi.org/10.1016%2FS0014-5793%2803%2900228-X">"Interaction of Sedlin with chloride intracellular channel proteins"</a>. <i>FEBS Letters</i>. 540 (1–3): 77–80. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/2003FEBSL.540...77F">2003FEBSL.540...77F</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2FS0014-5793%2803%2900228-X">10.1016/S0014-5793(03)00228-X</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12681486">12681486</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:8573651">8573651</a>.</li> <li>Savarirayan R, Thompson E, Gécz J (September 2003). <a href="https://doi.org/10.1038%2Fsj.ejhg.5201025">"Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)"</a>. <i>European Journal of Human Genetics</i>. 11 (9): 639–42. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fsj.ejhg.5201025">10.1038/sj.ejhg.5201025</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12939648">12939648</a>.</li></ul> <h2 id="external-links">External links</h2> <ul><li><a href="https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sedt">GeneReviews/NIH/NCBI/UW entry on X-Linked Spondyloepiphyseal Dysplasia Tarda</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/omim/300202,313400,300202,313400">OMIM entries on X-Linked Spondyloepiphyseal Dysplasia Tarda</a></li></ul> <h2 id="references">References</h2> <ol> <li id="fn:1"><p>Gécz J, Shaw MA, Bellon JR, de Barros Lopes M (November 2003). "Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not". Gene. 320: 137–44. doi:10.1016/S0378-1119(03)00819-9. PMID 14597397. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:1" class="footnote-back-ref">↩</a></p></li> <li id="fn:2"><p>"Entrez Gene: TRAPPC2 trafficking protein particle complex 2". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6399" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6399</a> <a href="#fnref:2" class="footnote-back-ref">↩</a></p></li> <li id="fn:3"><p>"Entrez Gene: TRAPPC2 trafficking protein particle complex 2". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6399" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6399</a> <a href="#fnref:3" class="footnote-back-ref">↩</a></p></li> <li id="fn:4"><p>"Entrez Gene: TRAPPC2 trafficking protein particle complex 2". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6399" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6399</a> <a href="#fnref:4" class="footnote-back-ref">↩</a></p></li> <li id="fn:5"><p>"TRAPPC2 gene at Genetics Home Reference". <a href="http://ghr.nlm.nih.gov/gene/TRAPPC2" target="_blank">http://ghr.nlm.nih.gov/gene/TRAPPC2</a> <a href="#fnref:5" class="footnote-back-ref">↩</a></p></li> <li id="fn:6"><p>"Entrez Gene: TRAPPC2 trafficking protein particle complex 2". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6399" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6399</a> <a href="#fnref:6" class="footnote-back-ref">↩</a></p></li> <li id="fn:7"><p>Ghosh AK, Majumder M, Steele R, White RA, Ray RB (January 2001). "A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1". Molecular and Cellular Biology. 21 (2): 655–62. doi:10.1128/MCB.21.2.655-662.2001. PMC 86643. PMID 11134351. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC86643" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC86643</a> <a href="#fnref:7" class="footnote-back-ref">↩</a></p></li> <li id="fn:8"><p>Fan L, Yu W, Zhu X (April 2003). "Interaction of Sedlin with chloride intracellular channel proteins". FEBS Letters. 540 (1–3): 77–80. Bibcode:2003FEBSL.540...77F. doi:10.1016/S0014-5793(03)00228-X. PMID 12681486. S2CID 8573651. <a href="https://doi.org/10.1016%2FS0014-5793%2803%2900228-X" target="_blank">https://doi.org/10.1016%2FS0014-5793%2803%2900228-X</a> <a href="#fnref:8" class="footnote-back-ref">↩</a></p></li> </ol>