TRAPPC2

Trafficking protein particle complex subunit 2 is thought to be part of a large multisubunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind MBP1 and block its transcriptional repression capability.

The TRAPPC2 gene is located on the X-chromosome at position 22 between base-pairs 13,712,241 to 13,734,634.{{cite web | title = TRAPPC2 gene at Genetics Home Reference| url = http://ghr.nlm.nih.gov/gene/TRAPPC2}}

Mutations in this gene are a cause of X-linked spondyloepiphyseal dysplasia tarda (SEDT).

TRAPPC2 has been shown to interact with Alpha-enolase{{cite journal | vauthors = Ghosh AK, Majumder M, Steele R, White RA, Ray RB | title = A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1 | journal = Molecular and Cellular Biology | volume = 21 | issue = 2 | pages = 655–62 | date = January 2001 | pmid = 11134351 | pmc = 86643 | doi = 10.1128/MCB.21.2.655-662.2001 }} and CLIC1.{{cite journal | vauthors = Fan L, Yu W, Zhu X | title = Interaction of Sedlin with chloride intracellular channel proteins | journal = FEBS Letters | volume = 540 | issue = 1–3 | pages = 77–80 | date = April 2003 | pmid = 12681486 | doi = 10.1016/S0014-5793(03)00228-X | s2cid = 8573651 | doi-access = free | bibcode = 2003FEBSL.540...77F }}

{{Reflist}}

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• {{cite journal | vauthors = Shaw MA, Brunetti-Pierri N, Kádasi L, Kovácová V, Van Maldergem L, De Brasi D, Salerno M, Gécz J | display-authors = 6 | title = Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4 | journal = Clinical Genetics | volume = 64 | issue = 3 | pages = 235–42 | date = September 2003 | pmid = 12919139 | doi = 10.1034/j.1399-0004.2003.00132.x | s2cid = 27897114 }}
• {{cite journal | vauthors = Adams MD, Soares MB, Kerlavage AR, Fields C, Venter JC | title = Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library | journal = Nature Genetics | volume = 4 | issue = 4 | pages = 373–80 | date = August 1993 | pmid = 8401585 | doi = 10.1038/ng0893-373 | s2cid = 12612300 }}
• {{cite journal | vauthors = Bernard LE, Chitayat D, Weksberg R, Van Allen MI, Langlois S | title = Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia | journal = Journal of Medical Genetics | volume = 33 | issue = 5 | pages = 432–4 | date = May 1996 | pmid = 8733060 | pmc = 1050619 | doi = 10.1136/jmg.33.5.432 }}
• {{cite journal | vauthors = Bonaldo MF, Lennon G, Soares MB | title = Normalization and subtraction: two approaches to facilitate gene discovery | journal = Genome Research | volume = 6 | issue = 9 | pages = 791–806 | date = September 1996 | pmid = 8889548 | doi = 10.1101/gr.6.9.791 | doi-access = free }}
• {{cite journal | vauthors = Gedeon AK, Colley A, Jamieson R, Thompson EM, Rogers J, Sillence D, Tiller GE, Mulley JC, Gécz J | display-authors = 6 | title = Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda | journal = Nature Genetics | volume = 22 | issue = 4 | pages = 400–4 | date = August 1999 | pmid = 10431248 | doi = 10.1038/11976 | s2cid = 5784112 }}
• {{cite journal | vauthors = Gécz J, Hillman MA, Gedeon AK, Cox TC, Baker E, Mulley JC | title = Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda | journal = Genomics | volume = 69 | issue = 2 | pages = 242–51 | date = October 2000 | pmid = 11031107 | doi = 10.1006/geno.2000.6326 }}
• {{cite journal | vauthors = Ghosh AK, Majumder M, Steele R, White RA, Ray RB | title = A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1 | journal = Molecular and Cellular Biology | volume = 21 | issue = 2 | pages = 655–62 | date = January 2001 | pmid = 11134351 | pmc = 86643 | doi = 10.1128/MCB.21.2.655-662.2001 }}
• {{cite journal | vauthors = Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC | display-authors = 6 | title = The molecular basis of X-linked spondyloepiphyseal dysplasia tarda | journal = American Journal of Human Genetics | volume = 68 | issue = 6 | pages = 1386–97 | date = June 2001 | pmid = 11349230 | pmc = 1226125 | doi = 10.1086/320592 }}
• {{cite journal | vauthors = Grunebaum E, Arpaia E, MacKenzie JJ, Fitzpatrick J, Ray PN, Roifman CM | title = A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree | journal = Journal of Medical Genetics | volume = 38 | issue = 6 | pages = 409–11 | date = June 2001 | pmid = 11424925 | pmc = 1734897 | doi = 10.1136/jmg.38.6.409 }}
• {{cite journal | vauthors = Mumm S, Zhang X, Vacca M, D'Esposito M, Whyte MP | title = The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site | journal = Gene | volume = 273 | issue = 2 | pages = 285–93 | date = August 2001 | pmid = 11595175 | doi = 10.1016/S0378-1119(01)00571-6 }}
• {{cite journal | vauthors = Takahashi T, Takahashi I, Tsuchida S, Oyama K, Komatsu M, Saito H, Takada G | title = An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda | journal = Clinical Genetics | volume = 61 | issue = 4 | pages = 319–20 | date = April 2002 | pmid = 12030902 | doi = 10.1034/j.1399-0004.2002.610416.x | s2cid = 31600967 }}
• {{cite journal | vauthors = Fiedler J, Bittner M, Puhl W, Brenner RE | title = Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men | journal = Clinical Genetics | volume = 62 | issue = 1 | pages = 94–5 | date = July 2002 | pmid = 12123495 | doi = 10.1034/j.1399-0004.2002.620114.x | s2cid = 35441074 }}
• {{cite journal | vauthors = Gao C, Luo Q, Wang HL, Gao XQ, Fan QT, Wang H, Sheng GY, Zhou JH, Gao TZ | display-authors = 6 | title = [Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda] | journal = Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics | volume = 20 | issue = 1 | pages = 15–8 | date = February 2003 | pmid = 12579492 }}
• {{cite journal | vauthors = Xiao C, Zhang S, Wang J, Qiu W, Chi L, Li Y, Su Z | title = A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family | journal = Mutation Research | volume = 525 | issue = 1–2 | pages = 61–5 | date = April 2003 | pmid = 12650905 | doi = 10.1016/s0027-5107(02)00315-9 | bibcode = 2003MRFMM.525...61X }}
• {{cite journal | vauthors = Fan L, Yu W, Zhu X | title = Interaction of Sedlin with chloride intracellular channel proteins | journal = FEBS Letters | volume = 540 | issue = 1–3 | pages = 77–80 | date = April 2003 | pmid = 12681486 | doi = 10.1016/S0014-5793(03)00228-X | s2cid = 8573651 | doi-access = free | bibcode = 2003FEBSL.540...77F }}
• {{cite journal | vauthors = Savarirayan R, Thompson E, Gécz J | title = Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400) | journal = European Journal of Human Genetics | volume = 11 | issue = 9 | pages = 639–42 | date = September 2003 | pmid = 12939648 | doi = 10.1038/sj.ejhg.5201025 | doi-access = free }}

{{Refend}}

• [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sedt GeneReviews/NIH/NCBI/UW entry on X-Linked Spondyloepiphyseal Dysplasia Tarda]
• [https://www.ncbi.nlm.nih.gov/omim/300202,313400,300202,313400 OMIM entries on X-Linked Spondyloepiphyseal Dysplasia Tarda]

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