TRAPPC2

Trafficking protein particle complex 2, also known as TRAPPC2, is a human gene.cite web | title = Entrez Gene: TRAPPC2 trafficking protein particle complex 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6399| accessdate = ]

PBB_Summary
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summary_text = The protein encoded by this gene 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. Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this gene is located on chromosome 19, and other pseuodogenes of it are found on chromosome 8 and the Y chromosome. Two transcript variants encoding the same protein have been found for this gene.cite web | title = Entrez Gene: TRAPPC2 trafficking protein particle complex 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6399| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Shaw MA, Brunetti-Pierri N, Kádasi L, "et al." |title=Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4. |journal=Clin. Genet. |volume=64 |issue= 3 |pages= 235–42 |year= 2004 |pmid= 12919139 |doi=
*cite journal | author=Adams MD, Soares MB, Kerlavage AR, "et al." |title=Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library. |journal=Nat. Genet. |volume=4 |issue= 4 |pages= 373–80 |year= 1993 |pmid= 8401585 |doi= 10.1038/ng0893-373
*cite journal | author=Bernard LE, Chitayat D, Weksberg R, "et al." |title=Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia. |journal=J. Med. Genet. |volume=33 |issue= 5 |pages= 432–4 |year= 1996 |pmid= 8733060 |doi=
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Gedeon AK, Colley A, Jamieson R, "et al." |title=Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. |journal=Nat. Genet. |volume=22 |issue= 4 |pages= 400–4 |year= 1999 |pmid= 10431248 |doi= 10.1038/11976
*cite journal | author=Gécz J, Hillman MA, Gedeon AK, "et al." |title=Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda. |journal=Genomics |volume=69 |issue= 2 |pages= 242–51 |year= 2001 |pmid= 11031107 |doi= 10.1006/geno.2000.6326
*cite journal | author=Ghosh AK, Majumder M, Steele R, "et al." |title=A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1. |journal=Mol. Cell. Biol. |volume=21 |issue= 2 |pages= 655–62 |year= 2001 |pmid= 11134351 |doi= 10.1128/MCB.21.2.655-662.2001
*cite journal | author=Gedeon AK, Tiller GE, Le Merrer M, "et al." |title=The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. |journal=Am. J. Hum. Genet. |volume=68 |issue= 6 |pages= 1386–97 |year= 2001 |pmid= 11349230 |doi=
*cite journal | author=Grunebaum E, Arpaia E, MacKenzie JJ, "et al." |title=A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree. |journal=J. Med. Genet. |volume=38 |issue= 6 |pages= 409–11 |year= 2001 |pmid= 11424925 |doi=
*cite journal | author=Mumm S, Zhang X, Vacca M, "et al." |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 |year= 2001 |pmid= 11595175 |doi=
*cite journal | author=Gavin AC, Bösche M, Krause R, "et al." |title=Functional organization of the yeast proteome by systematic analysis of protein complexes. |journal=Nature |volume=415 |issue= 6868 |pages= 141–7 |year= 2002 |pmid= 11805826 |doi= 10.1038/415141a
*cite journal | author=Takahashi T, Takahashi I, Tsuchida S, "et al." |title=An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda. |journal=Clin. Genet. |volume=61 |issue= 4 |pages= 319–20 |year= 2003 |pmid= 12030902 |doi=
*cite journal | author=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=Clin. Genet. |volume=62 |issue= 1 |pages= 94–5 |year= 2003 |pmid= 12123495 |doi=
*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=Gao C, Luo Q, Wang HL, "et al." |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 |volume=20 |issue= 1 |pages= 15–8 |year= 2003 |pmid= 12579492 |doi=
*cite journal | author=Xiao C, Zhang S, Wang J, "et al." |title=A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family. |journal=Mutat. Res. |volume=525 |issue= 1-2 |pages= 61–5 |year= 2003 |pmid= 12650905 |doi=
*cite journal | author=Fan L, Yu W, Zhu X |title=Interaction of Sedlin with chloride intracellular channel proteins. |journal=FEBS Lett. |volume=540 |issue= 1-3 |pages= 77–80 |year= 2003 |pmid= 12681486 |doi=
*cite journal | author=Savarirayan R, Thompson E, Gécz J |title=Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). |journal=Eur. J. Hum. Genet. |volume=11 |issue= 9 |pages= 639–42 |year= 2004 |pmid= 12939648 |doi= 10.1038/sj.ejhg.5201025
*cite journal | author=Gécz J, Shaw MA, Bellon JR, de Barros Lopes M |title=Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not. |journal=Gene |volume=320 |issue= |pages= 137–44 |year= 2004 |pmid= 14597397 |doi=

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