Property Summary

NCBI Gene PubMed Count 46
PubMed Score 25.13
PubTator Score 99.60

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Expression

Synonym

Accession P0DI81 A6NEG0 O14582 Q9HD16
Symbols SEDL
SEDT
MIP2A
TRS20
ZNF547L
hYP38334
TRAPPC2P1

Gene

PANTHER Protein Class (1)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

Gene RIF (25)

PMID Text
26252088 c.93+5G>A mutation in the TRAPPC2 gene is associated with X-linked spondyloepiphyseal dysplasia in a Chinese family.
25297591 Data suggest that c.267_271delAAGAC frameshift mutation of the exon 5 of the spondyloepiphyseal dysplasia, late protein (SEDL) gene probably underlies the disease in the family.
24841781 identification of the novel nonsense mutation (c.61G>T) in the SEDT family enables carrier detection, genetic counseling, and prenatal diagnosis.
23876379 A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.
23800666 Studies indicate that splice site mutation that leads to aberrant splicing often causes genetic skeletal system disease, like COL1A1, SEDL and LRP.
23656395 a novel hemizygous mutation, c.341-(11_9)delAAT, in an intron of TRAPPC caused spondyloepiphyseal dysplasia tarda
23019651 Sedlin bound and promoted efficient cycling of Sar1, a guanosine triphosphatase that can constrict membranes, and thus allowed nascent carriers to grow and incorporate procollagen prefibrils.
21858081 Data show that a disease-causing mutation of TRAPPC2, D47Y, failed to interact with either TRAPPC9 or TRAPPC8, suggesting that aspartate 47 in TRAPPC2 is at or near the site of interaction with TRAPPC9 or TRAPPC8.
21827752 Data indicate SPATA4 interacts with the C2 portion of the TRAPP complex.
20498720 SEDLIN is present in the nucleus, forms homodimers and that SEDT-associated mutations cause a loss of interaction with the transcription factors MBP1, PITX1 and SF1.
20108251 The results suggest that nucleus-localized Sedlin may play a role in regulation of transcriptional activities of the MRG family of transcription factors via binding to PAM14.
19766614 Identification of the novel insertion mutation (c.370-371insA) in this X-linked spondyloepiphyseal dysplasia tarda family is predicted to result in frameshifts and generate a premature stop codon
19417549 A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family.
19002213 results illustrate how disruption of the AT donor site in a rare AT-AC intron, leading to a canonical GT donor site, resulted in a multitude of aberrant transcripts, thus impairing exon definition of the SEDL gene.
18393234 A novel missense mutation (H80R) was identified for SEDL gene in the large Chinese SEDT pedigree.
18247296 SEDL gene mutation in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda (SEDL)
15952107 Data show that mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site.
15300622 The 13 bp deletion mutation consisting of IVS5-2-1delAG and 322-332del TTTTCAATGAA was identified in SEDL patients, but not detected in unrelated normal male individuals.
15221797 Six novel SEDL mutations found in European X-linked spondyloepiphyseal dysplasia tarda patients.
12939648 Sedl protein may participate in the ER-to-Golgi transport as part of a novel highly conserved multiprotein TRAPP complex
12919139 3 new SEDL mutations were found: 1 in the non-canonical 5' splice site of intron 4 (IVS4+4T>C), a deletion in exon 6 [333-336del(GAAT) & a 1.335-kb deletion (in5/ex6del).
12650905 A previously unreported deletion of T in exon 5 of SEDL gene (293delT) was observed in 2 spondyloepiphyseal dysplasia probands in a Chinese family; seven individuals in the family carry the mutation resulting in frameshift and a putative truncated protein
12579492 The mutation IVS2 -2A-->C of SEDL gene was firstly determined in the world. The change of the splice acceptor in SEDL intron 2 may cause skipping of exon 3 which is responsible for the X-linked spondyloepiphyseal dysplasia tarda.
12123495 SEDL mutations are not a common cause of early primary osteoarthritis in men.
12030902 A novel mutation produces a truncated protein, which may be useful in determining carboxy-terminal function

AA Sequence

MSGSFYFVIVGHHDNPVFEMEFLPAGKAESKDDHRHLNQFIAHAALDLVDENMWLSNNMYLKTVDKFNEW      1 - 70
FVSAFVTAGHMRFIMLHDIRQEDGIKNFFTDVYDLYIKFSMNPFYEPNSPIRSSAFDRKVQFLGKKHLLS     71 - 140
//

Text Mined References (49)

PMID Year Title
26252088 2015 [Mutation analysis of the TRAPPC2 gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda].
25918224 2015 TRAMM/TrappC12 plays a role in chromosome congression, kinetochore stability, and CENP-E recruitment.
25416956 2014 A proteome-scale map of the human interactome network.
25297591 2014 [Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda].
24841781 2014 A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree.
23876379 2013 A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.
23800666 2013 Aberrant and alternative splicing in skeletal system disease.
23656395 2014 Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23019651 2012 Sedlin controls the ER export of procollagen by regulating the Sar1 cycle.
21858081 2011 The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability.
21827752 2011 A yeast two hybrid screen identifies SPATA4 as a TRAPP interactor.
21525244 2011 C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking.
21269460 2011 Initial characterization of the human central proteome.
20498720 2010 SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1.
20108251 2010 Interaction of Sedlin with PAM14.
19766614 2009 A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.
19417549 2009 A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family.
19416478 2009 TRAPPC2L is a novel, highly conserved TRAPP-interacting protein.
19002213 2009 Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda.
18393234 2008 [A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree].
18247296 2008 [Identification of a missense mutation in SEDL gene from a Chinese family with X-linked spondyloepiphyseal dysplasia tarda].
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15952107 2005 Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15300622 2004 [Identification of a novel mutation of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda].
15221797 2004 X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14597397 2003 Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not.
12939648 2003 Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).
12919139 2003 Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4.
12681486 2003 Interaction of Sedlin with chloride intracellular channel proteins.
12650905 2003 A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family.
12579492 2003 [Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda].
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12123495 2002 Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men.
12030902 2002 An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda.
11805826 2002 Functional organization of the yeast proteome by systematic analysis of protein complexes.
11595175 2001 The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site.
11424925 2001 A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree.
11349230 2001 The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
11134351 2001 A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1.
11031107 2000 Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda.
10431248 1999 Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8733060 1996 Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia.
8401585 1993 Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library.