TRAPPC11 (trafficking protein particle complex subunit 11)

2014-11-01  

Identity

HGNC
LOCATION
4q35.1
LOCUSID
ALIAS
C4orf41,FOIGR,GRY,LGMD2S,LGMDR18
FUSION GENES

Other Information

Locus ID:

NCBI: 60684
MIM: 614138
HGNC: 25751
Ensembl: ENSG00000168538

Variants:

dbSNP: 60684
ClinVar: 60684
TCGA: ENSG00000168538
COSMIC: TRAPPC11

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168538ENST00000334690Q7Z392
ENSG00000168538ENST00000357207Q7Z392
ENSG00000168538ENST00000505676D6R9T9
ENSG00000168538ENST00000512476D6RHE5

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198

References

Pubmed IDYearTitleCitations
238305182013Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.28
308433022019TRAPPC11 functions in autophagy by recruiting ATG2B-WIPI4/WDR45 to preautophagosomal membranes.11
277078032017A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.10
269127952016trappc11 is required for protein glycosylation in zebrafish and humans.8
298553402018TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.8

Citation

Dessen P

TRAPPC11 (trafficking protein particle complex subunit 11)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75106/trappc11