Property Summary

NCBI Gene PubMed Count 46
PubMed Score 25.13
PubTator Score 99.60

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (2)

Expression

Synonym

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

Gene

PANTHER Protein Class (1)

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.
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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.
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