TRAPPC2

Template:Short description An Error has occurred retrieving Wikidata item for infobox 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. 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.

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.

Genetic Location

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

Clinical significance

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

Interactions

TRAPPC2 has been shown to interact with Alpha-enolase and CLIC1.

Further reading

• 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". Clinical Genetics. 64 (3): 235–42. doi:10.1034/j.1399-0004.2003.00132.x. PMID 12919139. S2CID 27897114.
• 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". Nature Genetics. 4 (4): 373–80. doi:10.1038/ng0893-373. PMID 8401585. S2CID 12612300.
• Bernard LE, Chitayat D, Weksberg R, Van Allen MI, Langlois S (May 1996). "Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia". Journal of Medical Genetics. 33 (5): 432–4. doi:10.1136/jmg.33.5.432. PMC 1050619. PMID 8733060.
• Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• 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". Nature Genetics. 22 (4): 400–4. doi:10.1038/11976. PMID 10431248. S2CID 5784112.
• 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". Genomics. 69 (2): 242–51. doi:10.1006/geno.2000.6326. PMID 11031107.
• 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.
• Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, et al. (June 2001). "The molecular basis of X-linked spondyloepiphyseal dysplasia tarda". American Journal of Human Genetics. 68 (6): 1386–97. doi:10.1086/320592. PMC 1226125. PMID 11349230.
• Grunebaum E, Arpaia E, MacKenzie JJ, Fitzpatrick J, Ray PN, Roifman CM (June 2001). "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. doi:10.1136/jmg.38.6.409. PMC 1734897. PMID 11424925.
• 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". Gene. 273 (2): 285–93. doi:10.1016/S0378-1119(01)00571-6. PMID 11595175.
• 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". Clinical Genetics. 61 (4): 319–20. doi:10.1034/j.1399-0004.2002.610416.x. PMID 12030902. S2CID 31600967.
• 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". Clinical Genetics. 62 (1): 94–5. doi:10.1034/j.1399-0004.2002.620114.x. PMID 12123495. S2CID 35441074.
• 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]". Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics. 20 (1): 15–8. PMID 12579492.
• 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". Mutation Research. 525 (1–2): 61–5. Bibcode:2003MRFMM.525...61X. doi:10.1016/s0027-5107(02)00315-9. PMID 12650905.
• 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.
• Savarirayan R, Thompson E, Gécz J (September 2003). "Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)". European Journal of Human Genetics. 11 (9): 639–42. doi:10.1038/sj.ejhg.5201025. PMID 12939648.

External links

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