TRAPPC2

From Wikipedia, the free encyclopedia

Trafficking protein particle complex 2

PDB rendering based on 1h3q.

Available structures: 1h3q, 2j3w

Identifiers

Symbol(s)

TRAPPC2; MIP-2A; SEDL; SEDT; TRS20; ZNF547L; hYP38334

External IDs

OMIM: 300202 MGI: 1913476 HomoloGene: 5436

Gene ontology
Molecular Function:	• transporter activity • transcription factor binding
Cellular Component:	• intracellular • endoplasmic reticulum
Biological Process:	• skeletal development • transcription • regulation of transcription, DNA-dependent • transport • ER to Golgi vesicle-mediated transport

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_001011658 (mRNA)
NP_001011658 (protein)

NM_025432 (mRNA)
NP_079708 (protein)

Location

Chr X: 13.64 - 13.66 Mb

n/a

Pubmed search

[1]

[2]

Trafficking protein particle complex 2, also known as TRAPPC2, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: TRAPPC2 trafficking protein particle complex 2.

[edit] 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.
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.
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.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. PMID 8889548.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Fan L, Yu W, Zhu X (2003). "Interaction of Sedlin with chloride intracellular channel proteins.". FEBS Lett. 540 (1-3): 77–80. PMID 12681486.
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.
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.