TRAPPC2 (trafficking protein particle complex subunit 2)

2014-11-01 Affiliation

Identity

HGNC

TRAPPC2

LOCATION

Xp22.2

LOCUSID

6399

ALIAS

MIP2A,SEDL,SEDT,TRAPPC2P1,TRS20,ZNF547L,hYP38334

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000196459	ENST00000359680	P0DI81
ENSG00000196459	ENST00000359680	Q6IBE5
ENSG00000196459	ENST00000380579	P0DI81
ENSG00000196459	ENST00000380579	Q6IBE5
ENSG00000196459	ENST00000458511	P0DI81
ENSG00000196459	ENST00000518847	E5RFG0
ENSG00000196459	ENST00000519885	F5H785

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Asparagine N-linked glycosylation	REACTOME	R-HSA-446203
Transport to the Golgi and subsequent modification	REACTOME	R-HSA-948021
ER to Golgi Anterograde Transport	REACTOME	R-HSA-199977
COPII (Coat Protein 2) Mediated Vesicle Transport	REACTOME	R-HSA-204005
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
RAB GEFs exchange GTP for GDP on RABs	REACTOME	R-HSA-8876198

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
23019651	2012	Sedlin controls the ER export of procollagen by regulating the Sar1 cycle.	71
21858081	2011	The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability.	26
20498720	2010	SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1.	13
12919139	2003	Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4.	9
23800666	2013	Aberrant and alternative splicing in skeletal system disease.	7
15221797	2004	X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families.	6
12939648	2003	Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).	5
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.	5
23656395	2014	Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT.	5
19766614	2009	A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.	3

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