Entity Details

Primary name EPG5
Entity type gene
Source Source Link

Details

PrimaryID57724
RefseqGeneNG_042838
SymbolEPG5
Nameectopic P-granules autophagy protein 5 homolog
Chromosome18
Location18q12.3-q21.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsEPG5_HUMAN

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0006862 nucleotide transport
GO:0008333 endosome to lysosome transport
GO:0032456 endocytic recycling
GO:0034162 toll-like receptor 9 signaling pathway
GO:0048471 perinuclear region of cytoplasm
GO:0097352 autophagosome maturation
GO:1990786 cellular response to dsDNA

Diseases

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Disease IDSourceNameDescription
242840 OMIMVici syndrome (VICIS)A rare congenital multisystem disorder characterized by agenesis of the corpus callosum, cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy. The disease is caused by variants affecting the gene represented in this entry. Affected individuals show homozygosity or compound heterozygosity for truncating mutations, aberrant splicing and/or missense mutations. Parental studies suggest recessive inheritance with no carrier manifestation (PubMed:23222957).

Interactions

8 interactions