EPG5 (ectopic P-granules autophagy protein 5 homolog)

2017-10-01  

Identity

HGNC
LOCATION
18q12.3
LOCUSID
ALIAS
HEEW1,KIAA1632,VICIS
FUSION GENES

Other Information

Locus ID:

NCBI: 57724
MIM: 615068
HGNC: 29331
Ensembl: ENSG00000152223

Variants:

dbSNP: 57724
ClinVar: 57724
TCGA: ENSG00000152223
COSMIC: EPG5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000152223ENST00000282041Q9HCE0
ENSG00000152223ENST00000587884K7ENK5
ENSG00000152223ENST00000590854K7ENS1
ENSG00000152223ENST00000590884K7EM87
ENSG00000152223ENST00000592272K7EPN4

Expression (GTEx)

0
5
10
15
20
25
30

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
232229572013Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.71
275886022016The Vici Syndrome Protein EPG5 Is a Rab7 Effector that Determines the Fusion Specificity of Autophagosomes with Late Endosomes/Lysosomes.54
253317542014First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.10
286156372017Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.7
175494232007Comparative integromics on the breast cancer-associated gene KIAA1632: clues to a cancer antigen domain.6
186493582008Replication of a genome-wide case-control study of esophageal squamous cell carcinoma.6
275860042016Non-parametric Survival Analysis of EPG5 Gene with Age at Onset of Alzheimer's Disease.4
268542142016Two cases of Vici syndrome associated with Idiopathic Thrombocytopenic Purpura (ITP) with a review of the literature.3
273432562016Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.3
281688532017Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.2

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