Identity
HGNC
LOCATION
4q35.1
LOCUSID
ALIAS
C4orf41,FOIGR,GRY,LGMD2S,LGMDR18
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: 60684
MIM: 614138
HGNC: 25751
Ensembl: ENSG00000168538
Variants:
dbSNP: 60684
ClinVar: 60684
TCGA: ENSG00000168538
COSMIC: TRAPPC11
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000168538 | ENST00000334690 | Q7Z392 |
| ENSG00000168538 | ENST00000357207 | Q7Z392 |
| ENSG00000168538 | ENST00000505676 | D6R9T9 |
| ENSG00000168538 | ENST00000512476 | D6RHE5 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| 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 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37197784 | 2023 | Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant. | 0 |
| 37197784 | 2023 | Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant. | 0 |
| 30843302 | 2019 | TRAPPC11 functions in autophagy by recruiting ATG2B-WIPI4/WDR45 to preautophagosomal membranes. | 34 |
| 30843302 | 2019 | TRAPPC11 functions in autophagy by recruiting ATG2B-WIPI4/WDR45 to preautophagosomal membranes. | 34 |
| 29855340 | 2018 | TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy. | 21 |
| 29855340 | 2018 | TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy. | 21 |
| 27707803 | 2017 | A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima. | 20 |
| 27707803 | 2017 | A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima. | 20 |
| 26912795 | 2016 | trappc11 is required for protein glycosylation in zebrafish and humans. | 13 |
| 26912795 | 2016 | trappc11 is required for protein glycosylation in zebrafish and humans. | 13 |
| 23830518 | 2013 | Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. | 45 |
| 23830518 | 2013 | Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. | 45 |
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-(trafficking-protein-particle-complex-subunit-11)
