Identity
HGNC
LOCATION
18q12.3
LOCUSID
ALIAS
HEEW1,KIAA1632,VICIS
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: 57724
MIM: 615068
HGNC: 29331
Ensembl: ENSG00000152223
Variants:
dbSNP: 57724
ClinVar: 57724
TCGA: ENSG00000152223
COSMIC: EPG5
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34689707 | 2022 | Human platelets display dysregulated sepsis-associated autophagy, induced by altered LC3 protein-protein interaction of the Vici-protein EPG5. | 5 |
| 36410285 | 2022 | Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant. | 1 |
| 34689707 | 2022 | Human platelets display dysregulated sepsis-associated autophagy, induced by altered LC3 protein-protein interaction of the Vici-protein EPG5. | 5 |
| 36410285 | 2022 | Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant. | 1 |
| 33674710 | 2021 | Insights on autophagosome-lysosome tethering from structural and biochemical characterization of human autophagy factor EPG5. | 7 |
| 34264147 | 2021 | Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate. | 0 |
| 33674710 | 2021 | Insights on autophagosome-lysosome tethering from structural and biochemical characterization of human autophagy factor EPG5. | 7 |
| 34264147 | 2021 | Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate. | 0 |
| 31184778 | 2020 | EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome. | 3 |
| 31184778 | 2020 | EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome. | 3 |
| 31410206 | 2019 | C-myc/miR-150/EPG5 axis mediated dysfunction of autophagy promotes development of non-small cell lung cancer. | 30 |
| 31410206 | 2019 | C-myc/miR-150/EPG5 axis mediated dysfunction of autophagy promotes development of non-small cell lung cancer. | 30 |
| 29130391 | 2018 | The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity. | 11 |
| 29227033 | 2018 | Autopsy findings in EPG5-related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus. | 2 |
| 30152144 | 2018 | Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome. | 1 |
Citation
Dessen P
EPG5 (ectopic P-granules autophagy protein 5 homolog)
Atlas Genet Cytogenet Oncol Haematol. 2017-10-01
Online version: http://atlasgeneticsoncology.org/gene/57126/epg5-(ectopic-p-granules-autophagy-protein-5-homolog)
