TRAPPC2

Trafficking protein particle complex 2
File:PBB Protein TRAPPC2 image.jpg PDB rendering based on 1h3q.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1h3q​, 2j3w​
Identifiers
Symbols	TRAPPC2 ; MIP-2A; SEDL; SEDT; TRS20; ZNF547L; hYP38334
External IDs	Template:OMIM5 Template:MGI HomoloGene: 5436
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE TRAPPC2 219351 at tn.png
File:PBB GE TRAPPC2 209751 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Trafficking protein particle complex 2, also known as TRAPPC2, is a human gene.

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.

Further reading

• Shaw MA, Brunetti-Pierri N, Kádasi L; et al. (2004). "Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4". Clin. Genet. 64 (3): 235–42. PMID 12919139.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Adams MD, Soares MB, Kerlavage AR; et al. (1993). "Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library". Nat. Genet. 4 (4): 373–80. doi:10.1038/ng0893-373. PMID 8401585.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bernard LE, Chitayat D, Weksberg R; et al. (1996). "Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia". J. Med. Genet. 33 (5): 432–4. PMID 8733060.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.CS1 maint: Multiple names: authors list (link)
• Gedeon AK, Colley A, Jamieson R; et al. (1999). "Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda". Nat. Genet. 22 (4): 400–4. doi:10.1038/11976. PMID 10431248.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gécz J, Hillman MA, Gedeon AK; et al. (2001). "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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ghosh AK, Majumder M, Steele R; et al. (2001). "A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1". Mol. Cell. Biol. 21 (2): 655–62. doi:10.1128/MCB.21.2.655-662.2001. PMID 11134351.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gedeon AK, Tiller GE, Le Merrer M; et al. (2001). "The molecular basis of X-linked spondyloepiphyseal dysplasia tarda". Am. J. Hum. Genet. 68 (6): 1386–97. PMID 11349230.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Grunebaum E, Arpaia E, MacKenzie JJ; et al. (2001). "A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree". J. Med. Genet. 38 (6): 409–11. PMID 11424925.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mumm S, Zhang X, Vacca M; et al. (2001). "The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site". Gene. 273 (2): 285–93. PMID 11595175.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gavin AC, Bösche M, Krause R; et al. (2002). "Functional organization of the yeast proteome by systematic analysis of protein complexes". Nature. 415 (6868): 141–7. doi:10.1038/415141a. PMID 11805826.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Takahashi T, Takahashi I, Tsuchida S; et al. (2003). "An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda". Clin. Genet. 61 (4): 319–20. PMID 12030902.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fiedler J, Bittner M, Puhl W, Brenner RE (2003). "Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men". Clin. Genet. 62 (1): 94–5. PMID 12123495.CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gao C, Luo Q, Wang HL; et al. (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. 20 (1): 15–8. PMID 12579492.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Xiao C, Zhang S, Wang J; et al. (2003). "A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family". Mutat. Res. 525 (1–2): 61–5. PMID 12650905.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fan L, Yu W, Zhu X (2003). "Interaction of Sedlin with chloride intracellular channel proteins". FEBS Lett. 540 (1–3): 77–80. PMID 12681486.CS1 maint: Multiple names: authors list (link)
• Savarirayan R, Thompson E, Gécz J (2004). "Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)". Eur. J. Hum. Genet. 11 (9): 639–42. doi:10.1038/sj.ejhg.5201025. PMID 12939648.CS1 maint: Multiple names: authors list (link)
• Gécz J, Shaw MA, Bellon JR, de Barros Lopes M (2004). "Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not". Gene. 320: 137–44. PMID 14597397.CS1 maint: Multiple names: authors list (link)