EPG5 Gene: Autophagy Regulator and Vici Syndrome Genetics
Explore EPG5 gene function, associated diseases, expression, mutations, and clinical significance in autophagy-related disorders.
Gene Information Card
| Symbol | EPG5 |
|---|---|
| Full Name | ectopic P granules protein 5 homolog |
| Gene Type | protein coding |
| Chromosomal Location | 18q12.3 |
| NCBI Gene ID | 57724 ncbi.nlm.nih.gov/gene/57724 |
| Ensembl ID | ENSG00000152217 |
| UniProt ID | Q9HCE0 |
| OMIM ID | 615068 |
| HGNC ID | 29331 |
| Aliases | KIAA1632, VICIS |
Description
EPG5 encodes a large protein involved in autophagy, specifically in the maturation of autophagosomes and their fusion with lysosomes. It is a key regulator of autophagic flux and is critical for cellular homeostasis. Mutations in EPG5 cause Vici syndrome, a rare multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, immunodeficiency, and hypopigmentation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Vici syndrome | Loss-of-function mutations impair autophagosome-lysosome fusion, leading to accumulation of autophagic vacuoles and cellular damage. | ClinVar, OMIM (615068) |
| Immunodeficiency | EPG5 deficiency disrupts immune cell function, particularly in T and B cells, due to defective autophagy. | PubMed, ClinVar |
| Cardiomyopathy | Autophagy dysfunction in cardiac tissue leads to protein aggregate accumulation and myopathy. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 8.5 | Low |
| Heart | 7.2 | Low |
| Brain | 6.8 | Low |
| Liver | 5.9 | Low |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 5.0 | Moderate expression |
| HEK293 | 4.5 | Moderate expression |
| HepG2 | 3.8 | Low expression |
| A549 | 4.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1007C>T (p.Arg336Ter) | Nonsense | Rare | Loss of function, premature truncation |
| c.2470C>T (p.Arg824Ter) | Nonsense | Rare | Loss of function, premature truncation |
| c.4336C>T (p.Arg1446Ter) | Nonsense | Rare | Loss of function, premature truncation |
| c.6007C>T (p.Arg2003Ter) | Nonsense | Rare | Loss of function, premature truncation |
Mutation functional classification
Loss of Function (LOF)
Most EPG5 mutations are loss-of-function, leading to truncated or absent protein, impairing autophagy.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects documented; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • autophagy | • autophagosome maturation |
| • protein homodimerization activity | • late endosome to lysosome transport |
| • response to starvation |
Pathways
• Autophagy - animal
• Mitophagy
• Selective autophagy
Protein Summary
EPG5 is a large protein (2579 amino acids) with a coiled-coil domain and a PH domain. It localizes to autophagosomes and lysosomes, facilitating their fusion. It interacts with Rab7 and other SNARE proteins to mediate autophagosome-lysosome fusion. Defects in EPG5 lead to impaired autophagic clearance, contributing to neurodegeneration and immune dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPG5 Knockout HEK293 Cell Line | EDJ-KQ13302 | Human | 57724 | Details Get a Quote |
| EPG5 Knockout A-549 Cell Line | EDJ-KQ42754 | Human | 57724 | Details Get a Quote |
| EPG5 Knockout HCT 116 Cell Line | EDJ-KQ42755 | Human | 57724 | Details Get a Quote |
| EPG5 Knockout HeLa Cell Line | EDJ-KQ42756 | Human | 57724 | Details Get a Quote |
