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Gene Review

TRAPPC2  -  trafficking protein particle complex 2

Homo sapiens

Synonyms: MIP-2A, MIP2A, SEDL, SEDT, TRAPPC2P1, ...
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Disease relevance of TRAPPC2


Psychiatry related information on TRAPPC2

  • Although there is no specific treatment for SEDT, preexpression molecular testing of SEDL could be helpful if avoiding physical activities potentially injurious to the spine and the joints proves beneficial [5].

High impact information on TRAPPC2

  • SEDL encodes a 140 amino acid protein with a putative role in endoplasmic reticulum (ER)-to-Golgi vesicular transport [2].
  • Deletions or point mutations in the SEDL gene are responsible for the genetic disease spondyloepiphyseal dysplasia tarda (SEDT), an X-linked skeletal disorder [6].
  • SEDL has been identified as a component of the transport protein particle (TRAPP), critically involved in endoplasmic reticulum-to-Golgi vesicle transport [6].
  • Herein, we report the 2.4 A resolution structure of SEDL, which reveals an unexpected similarity to the structures of the N-terminal regulatory domain of two SNAREs, Ykt6p and Sec22b, despite no sequence homology to these proteins [6].
  • A novel 2-base pair (bp) deletion in exon 5 of SEDL was found in the propositus by polymerase chain reaction (PCR) amplification and sequencing of all four coding exons [5].

Biological context of TRAPPC2


Anatomical context of TRAPPC2


Associations of TRAPPC2 with chemical compounds

  • The link between Sedlin and the intracellular chloride channels is the first step to understand their functional interplays [10].
  • This Japanese family was found to have an intragenic deletion flanking intron 2 and exon 3 of the SEDL gene that not only included the 5' untranslated region but also the coding sequence for the first methionine through the 25th alanine [11].

Physical interactions of TRAPPC2


Other interactions of TRAPPC2


Analytical, diagnostic and therapeutic context of TRAPPC2


  1. A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1. Ghosh, A.K., Majumder, M., Steele, R., White, R.A., Ray, R.B. Mol. Cell. Biol. (2001) [Pubmed]
  2. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Gedeon, A.K., Colley, A., Jamieson, R., Thompson, E.M., Rogers, J., Sillence, D., Tiller, G.E., Mulley, J.C., Gécz, J. Nat. Genet. (1999) [Pubmed]
  3. Crystallization and preliminary X-ray crystallographic analysis of SEDL. Jang, S.B., Cho, Y.S., Eom, S.J., Choi, E.J., Kim, K.H., Suh, P.G., Oh, B.H. Acta Crystallogr. D Biol. Crystallogr. (2002) [Pubmed]
  4. Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia. Shaw, M.A., McDonough, B., Hodess, A.B., Harter, D.H., Gécz, J. Am. J. Med. Genet. A (2004) [Pubmed]
  5. Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin. Mumm, S., Zhang, X., Gottesman, G.S., McAlister, W.H., Whyte, M.P. J. Bone Miner. Res. (2001) [Pubmed]
  6. Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda. Jang, S.B., Kim, Y.G., Cho, Y.S., Suh, P.G., Kim, K.H., Oh, B.H. J. Biol. Chem. (2002) [Pubmed]
  7. The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site. Mumm, S., Zhang, X., Vacca, M., D'Esposito, M., Whyte, M.P. Gene (2001) [Pubmed]
  8. Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). Savarirayan, R., Thompson, E., Gécz, J. Eur. J. Hum. Genet. (2003) [Pubmed]
  9. Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not. Gécz, J., Shaw, M.A., Bellon, J.R., de Barros Lopes, M. Gene (2003) [Pubmed]
  10. Interaction of Sedlin with chloride intracellular channel proteins. Fan, L., Yu, W., Zhu, X. FEBS Lett. (2003) [Pubmed]
  11. Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family. Matsui, Y., Yasui, N., Ozono, K., Yamagata, M., Kawabata, H., Yoshikawa, H. Am. J. Med. Genet. (2001) [Pubmed]
  12. A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family. Xiao, C., Zhang, S., Wang, J., Qiu, W., Chi, L., Li, Y., Su, Z. Mutat. Res. (2003) [Pubmed]
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