Identity
HGNC
LOCATION
Xp22.2
LOCUSID
ALIAS
MIP2A,SEDL,SEDT,TRAPPC2P1,TRS20,ZNF547L,hYP38334
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6399
MIM: 300202
HGNC: 23068
Ensembl: ENSG00000196459
Variants:
dbSNP: 6399
ClinVar: 6399
TCGA: ENSG00000196459
COSMIC: TRAPPC2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31053099 | 2019 | Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases. | 4 |
| 31053099 | 2019 | Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases. | 4 |
| 26252088 | 2015 | [Mutation analysis of the TRAPPC2 gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. | 1 |
| 26252088 | 2015 | [Mutation analysis of the TRAPPC2 gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. | 1 |
| 23656395 | 2014 | Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT. | 8 |
| 24841781 | 2014 | A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree. | 4 |
| 25297591 | 2014 | [Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda]. | 0 |
| 23656395 | 2014 | Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT. | 8 |
| 24841781 | 2014 | A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree. | 4 |
| 25297591 | 2014 | [Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda]. | 0 |
| 23800666 | 2013 | Aberrant and alternative splicing in skeletal system disease. | 12 |
| 23876379 | 2013 | A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. | 2 |
| 23800666 | 2013 | Aberrant and alternative splicing in skeletal system disease. | 12 |
| 23876379 | 2013 | A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. | 2 |
| 23019651 | 2012 | Sedlin controls the ER export of procollagen by regulating the Sar1 cycle. | 88 |
Citation
Dessen P
TRAPPC2 (trafficking protein particle complex subunit 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/75109/trappc2-(trafficking-protein-particle-complex-subunit-2)
