TRAPPC2 explained

Trafficking protein particle complex subunit 2 (TRAPPC2) also known as MBP-1-interacting protein 2A (MIP-2A) is a protein that in humans is encoded by the TRAPPC2 gene.^{[1] [2]} 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.^[2]

Function

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.^[2]

Genetic Location

The TRAPPC2 gene is located on the X-chromosome at position 22 between base-pairs 13,712,241 to 13,734,634.^[3]

Clinical significance

Mutations in this gene are a cause of X-linked spondyloepiphyseal dysplasia tarda (SEDT).^[2]

Interactions

TRAPPC2 has been shown to interact with Alpha-enolase^[4] and CLIC1.^[5]

Further reading

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

External links

• GeneReviews/NIH/NCBI/UW entry on X-Linked Spondyloepiphyseal Dysplasia Tarda
• OMIM entries on X-Linked Spondyloepiphyseal Dysplasia Tarda

Notes and References

1. Gécz J, Shaw MA, Bellon JR, de Barros Lopes M . Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not . Gene . 320 . 137–44 . November 2003 . 14597397 . 10.1016/S0378-1119(03)00819-9 .
2. Web site: Entrez Gene: TRAPPC2 trafficking protein particle complex 2.
3. Web site: TRAPPC2 gene at Genetics Home Reference.
4. Ghosh AK, Majumder M, Steele R, White RA, Ray RB . 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 . January 2001 . 11134351 . 86643 . 10.1128/MCB.21.2.655-662.2001 .
5. Fan L, Yu W, Zhu X . Interaction of Sedlin with chloride intracellular channel proteins . FEBS Letters . 540 . 1–3 . 77–80 . April 2003 . 12681486 . 10.1016/S0014-5793(03)00228-X . 8573651 . free .