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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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EPG5
ectopic P-granules 5 autophagy tethering factor
Chromosome 18 Β· 18q12.3-q21.1
NCBI Gene: 57724Ensembl: ENSG00000152223.16HGNC: HGNC:29331UniProt: A0A8Q3SIJ2
46PubMed Papers
21Diseases
0Drugs
213Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
toll-like receptor 9 signaling pathwayprotein bindingnucleotide transportendosome to lysosome transportVici syndromeneurodegenerative diseasegenetic disordersyndromic retinitis pigmentosa
✦AI Summary

EPG5 (ectopic P-granules 5 autophagy tethering factor) is a metazoan-specific autophagy protein that mediates the final step of macroautophagy by promoting autophagosome-lysosome fusion 1. Structurally, EPG5 contains helical bundles analogous to membrane trafficking tethering factors, with a unique thumb domain and tandem LIR (LC3-interacting region) motifs that bind GABARAP-family Atg8 proteins to enforce fusion specificity 1. EPG5 also plays a specialized role in innate immunity by facilitating CpG dinucleotide translocation from early to late endosomes for TLR9-mediated immune responses. Additionally, EPG5 regulates selective cargo degradation; knockout in granulosa cells impairs WT1 turnover, disrupting steroidogenesis and causing primary ovarian insufficiency 2. In macrophages, EPG5 maintains homeostatic control of lung inflammation, with deficiency leading to elevated baseline innate immune activation 3.EPG5 deficiency causes Vici syndrome, a rare autosomal recessive disorder characterized by corpus callosum agenesis, congenital cataracts, cardiomyopathy, immunodeficiency, and developmental delay 4. Recently, biallelic EPG5 variants have been associated with Parkinson's disease, where deficiency impairs autophagy-lysosomal function and causes dopaminergic neurodegeneration 5. EPG5 represents a critical link between autophagy dysregulation and diverse neurodevelopmental and neurodegenerative phenotypes 67.

Sources cited
1
EPG5 structure, tethering function for autophagosome-lysosome fusion, and GABARAP binding mechanism via LIR motifs
PMID: 39809444
2
EPG5 knockout causes primary ovarian insufficiency through impaired WT1 degradation in granulosa cells
PMID: 35786405
3
EPG5 in macrophages maintains homeostatic control of lung inflammation
PMID: 26764600
4
EPG5 mutations cause Vici syndrome with corpus callosum agenesis, cataracts, cardiomyopathy, and immunodeficiency
PMID: 33120733
5
Biallelic EPG5 variants associated with Parkinson's disease, causing impaired autophagy and dopaminergic neurodegeneration
PMID: 40192014
6
EPG5 deficiency linked to neurodevelopmental and neurodegenerative disorders as part of congenital autophagy disorders
PMID: 34130600
7
EPG5-related Vici syndrome is the paradigmatic congenital disorder of autophagy
PMID: 39420677
Disease Associationsβ“˜21
Vici syndromeOpen Targets
0.86Strong
neurodegenerative diseaseOpen Targets
0.53Moderate
genetic disorderOpen Targets
0.52Moderate
syndromic retinitis pigmentosaOpen Targets
0.40Weak
cardiomyopathyOpen Targets
0.28Weak
celiac diseaseOpen Targets
0.28Weak
liver diseaseOpen Targets
0.27Weak
paralytic strabismusOpen Targets
0.23Weak
microcephalyOpen Targets
0.15Weak
Global developmental delayOpen Targets
0.11Weak
ParkinsonismOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.07Suggestive
essential tremorOpen Targets
0.07Suggestive
Young adult-onset ParkinsonismOpen Targets
0.07Suggestive
Primary dystonia, DYT13 typeOpen Targets
0.06Suggestive
dystonia 27Open Targets
0.06Suggestive
Hereditary late-onset Parkinson diseaseOpen Targets
0.06Suggestive
torsion dystonia 2Open Targets
0.06Suggestive
X-linked dystonia-parkinsonismOpen Targets
0.06Suggestive
Cranio-cervical dystonia with laryngeal and upper-limb involvementOpen Targets
0.06Suggestive
Vici syndromeUniProt
Pathogenic Variants213
NM_020964.3(EPG5):c.5704dup (p.Tyr1902fs)Pathogenic
Vici syndrome|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 1902
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg)Pathogenic
not provided|Vici syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 336
NM_020964.3(EPG5):c.1254del (p.Ser419fs)Pathogenic
Vici syndrome|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 419
NM_020964.3(EPG5):c.4588C>T (p.Gln1530Ter)Pathogenic
Vici syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 1530
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter)Pathogenic
Vici syndrome|EPG5-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 2445
NM_020964.3(EPG5):c.263T>G (p.Leu88Ter)Pathogenic
not provided|Vici syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 88
NM_020964.3(EPG5):c.1435_1438del (p.Phe478_Leu479insTer)Pathogenic
Vici syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 478
NM_020964.3(EPG5):c.2716C>T (p.Gln906Ter)Pathogenic
Vici syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 906
NM_020964.3(EPG5):c.6541G>T (p.Glu2181Ter)Pathogenic
Vici syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 2181
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter)Pathogenic
Vici syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1584
NM_020964.3(EPG5):c.1253-1G>APathogenic
Vici syndrome
β˜…β˜…β˜†β˜†2025
NM_020964.3(EPG5):c.2461C>T (p.Arg821Ter)Pathogenic
Vici syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 821
NM_020964.3(EPG5):c.1777_1781del (p.Leu592_Gly593insTer)Pathogenic
Vici syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 592
NM_020964.3(EPG5):c.3937C>T (p.Gln1313Ter)Pathogenic
not provided|Vici syndrome|EPG5-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 1313
NM_020964.3(EPG5):c.2863C>T (p.Arg955Ter)Pathogenic
Vici syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 955
NM_020964.3(EPG5):c.6232C>T (p.Arg2078Ter)Pathogenic
Vici syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 2078
NM_020964.3(EPG5):c.1576C>T (p.Arg526Ter)Pathogenic
Vici syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 526
NM_020964.3(EPG5):c.4475-1G>ALikely pathogenic
Vici syndrome
β˜…β˜…β˜†β˜†2024
NM_020964.3(EPG5):c.6020_6021del (p.Cys2007fs)Pathogenic
not provided|Vici syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 2007
NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter)Pathogenic
Vici syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 417
View on ClinVar β†—
Related Genes
ATG12Protein interaction95%ATG5Protein interaction78%EI24Protein interaction73%ATG2BProtein interaction72%PLEKHM1Protein interaction72%ATG14Protein interaction72%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
65%
Ovary
63%
Heart
53%
Brain
37%
Liver
34%
Gene Interaction Network
Click a node to explore
EPG5ATG12ATG5EI24ATG2BPLEKHM1ATG14
PROTEIN STRUCTURE
Preparing viewer…
PDB7JHX Β· 1.91 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.58Moderately Constrained
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.50 [0.43–0.58]
RankingsWhere EPG5 stands among ~20K protein-coding genes
  • #9,325of 20,598
    Most Researched46
  • #310of 5,498
    Most Pathogenic Variants213 Β· top 10%
  • #3,873of 17,882
    Most Constrained (LOEUF)0.58 Β· top quartile
Genes detectedEPG5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 35786405
Autophagy Β· 2023
1.00
2
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
PMID: 34130600
Autophagy Β· 2022
0.90
3
Structure of the human autophagy factor EPG5 and the molecular basis of its conserved mode of interaction with Atg8-family proteins.
PMID: 39809444
Autophagy Β· 2025
0.80
4
Biallelic Variants in EPG5 Gene Are Associated with Parkinson's Disease.
PMID: 40192014
Ann Neurol Β· 2025
0.70
5
Homeostatic Control of Innate Lung Inflammation by Vici Syndrome Gene Epg5 and Additional Autophagy Genes Promotes Influenza Pathogenesis.
PMID: 26764600
Cell Host Microbe Β· 2016
0.60