Trafficking Protein Particle Complex 2 (TRAPPC2)

MIP-2A; SEDL; SEDT; TRS20; ZNF547L; Sedlin; Spondyloepiphyseal Dysplasia,Late

SPN	U049
HGNC	23068
MGI	1913476
PubMed	21858081
RGD	1306925
UniProt	P0DI81
Wiki	TRAPPC2

Trafficking protein particle complex subunit 2 is a protein 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.

Reference

"Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda."
Nat. Genet. 22:400-404(1999) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of the human X chromosome."
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda."
Genomics 69:242-251(2000) [PubMed] [Europe PMC] [Abstract]

"Functional organization of the yeast proteome by systematic analysis of protein complexes."
Nature 415:141-147(2002) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking."
Mol. Biol. Cell 22:2083-2093(2011) [PubMed] [Europe PMC] [Abstract]

"Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not."
Gene 320:137-144(2003) [PubMed] [Europe PMC] [Abstract]

"TRAPPC2L is a novel, highly conserved TRAPP-interacting protein."
Traffic 10:724-736(2009) [PubMed] [Europe PMC] [Abstract]

"SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1."
PLoS ONE 5:E10646-E10646(2010) [PubMed] [Europe PMC] [Abstract]

"The molecular basis of X-linked spondyloepiphyseal dysplasia tarda."
Am. J. Hum. Genet. 68:1386-1397(2001) [PubMed] [Europe PMC] [Abstract]

"A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree."
J. Med. Genet. 38:409-411(2001) [PubMed] [Europe PMC] [Abstract]