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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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VPS11
VPS11 core subunit of CORVET and HOPS complexes
Chromosome 11 · 11q23.3
NCBI Gene: 55823Ensembl: ENSG00000160695.16HGNC: HGNC:14583UniProt: B7Z879
83PubMed Papers
22Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lysosomeearly endosomelate endosomemolecular adaptor activityhypomyelinating leukodystrophy 12Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadismneurodegenerative diseasedystonia 32
✦AI Summary

VPS11 is a core subunit of the CORVET and HOPS endosomal tethering complexes that mediates vesicle-mediated protein trafficking to lysosomal compartments 12345. VPS11 functions as a Rab5 effector in early endosome fusion and is recruited to Rab7-positive late endosomes to regulate late endocytic, phagocytic, and autophagic traffic toward lysosomes 12345. It is required for fusion of endosomes and autophagosomes with lysosomes and for the transition from early to late endosomes 56. Beyond its canonical membrane trafficking role, VPS11 acts as an E3 ubiquitin ligase that fine-tunes signaling pathways including Wnt, estrogen receptor α, and NFκB 7. VPS11 dysfunction causes Dystonia 32 and hypomyelinating leukodystrophy 12, characterized by neurological deficits including progressive visual and sensorimotor abnormalities 8. Clinically, VPS11 dysregulation impairs autophagosome-lysosome fusion, contributing to hepatic lipid deposition in non-alcoholic fatty liver disease 9. Additionally, VPS11 regulates PD-L1 trafficking and stability, with VPS11 inhibition enhancing immunotherapy efficacy against tumors 10. Pathogenic viruses exploit VPS11 function; tick-borne encephalitis virus protein prM binds VPS11 to constrain autolysosome formation 11.

Sources cited
1
Beyond its canonical membrane trafficking role, VPS11 acts as an E3 ubiquitin ligase that fine-tunes signaling pathways including Wnt, estrogen receptor α, and NFκB .
PMID: 31015428
2
VPS11 dysfunction causes Dystonia 32 and hypomyelinating leukodystrophy 12, characterized by neurological deficits including progressive visual and sensorimotor abnormalities .
PMID: 35241734
3
Clinically, VPS11 dysregulation impairs autophagosome-lysosome fusion, contributing to hepatic lipid deposition in non-alcoholic fatty liver disease .
PMID: 39434426
4
Additionally, VPS11 regulates PD-L1 trafficking and stability, with VPS11 inhibition enhancing immunotherapy efficacy against tumors .
PMID: 39413192
5
Pathogenic viruses exploit VPS11 function; tick-borne encephalitis virus protein prM binds VPS11 to constrain autolysosome formation .
PMID: 39616195
Disease Associationsⓘ22
hypomyelinating leukodystrophy 12Open Targets
0.74Strong
Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadismOpen Targets
0.54Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
dystonia 32Open Targets
0.41Moderate
COVID-19Open Targets
0.37Weak
VPS11-related neurological disorderOpen Targets
0.37Weak
LeukoencephalopathyOpen Targets
0.34Weak
coronary artery diseaseOpen Targets
0.29Weak
genetic disorderOpen Targets
0.19Weak
type 2 diabetes mellitusOpen Targets
0.18Weak
obesityOpen Targets
0.12Weak
gallstonesOpen Targets
0.12Weak
Abnormality of the skeletal systemOpen Targets
0.11Weak
diabetes mellitusOpen Targets
0.08Suggestive
heart failureOpen Targets
0.07Suggestive
peripheral arterial diseaseOpen Targets
0.05Suggestive
metabolic syndromeOpen Targets
0.05Suggestive
smoking initiationOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
Dystonia 32UniProt
Leukodystrophy, hypomyelinating, 12UniProt
Pathogenic Variants3
NM_021729.6(VPS11):c.2536T>G (p.Cys846Gly)Pathogenic
Leukoencephalopathy|Hypomyelinating leukodystrophy 12|not provided
★★☆☆2025→ Residue 846
NM_021729.6(VPS11):c.1158_1184del (p.Leu387_Gly395del)Pathogenic
Hypomyelinating leukodystrophy 12
☆☆☆☆2023→ Residue 387
NM_021729.6(VPS11):c.136C>T (p.Pro46Ser)Pathogenic
Dystonia 32
☆☆☆☆2023→ Residue 46
View on ClinVar ↗
Related Genes
UVRAGProtein interaction100%STX7Protein interaction100%RAB9AProtein interaction100%STX8Protein interaction100%PLEKHM1Protein interaction100%VTI1BProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
56%
Brain
50%
Lung
47%
Heart
45%
Liver
31%
Gene Interaction Network
Click a node to explore
VPS11UVRAGSTX7RAB9ASTX8PLEKHM1VTI1B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H270
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.60Moderately Constrained
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.47 [0.38–0.60]
RankingsWhere VPS11 stands among ~20K protein-coding genes
  • #5,766of 20,598
    Most Researched83
  • #4,009of 5,498
    Most Pathogenic Variants3
  • #4,080of 17,882
    Most Constrained (LOEUF)0.60 · top quartile
Genes detectedVPS11
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CARM1 drives mitophagy and autophagy flux during fasting-induced skeletal muscle atrophy.
PMID: 38018843
Autophagy · 2024
1.00
2
Multi-protomics analysis identified host cellular pathways perturbed by tick-borne encephalitis virus infection.
PMID: 39616195
Nat Commun · 2024
0.90
3
ESRRA (estrogen related receptor alpha) is a critical regulator of intestinal homeostasis through activation of autophagic flux via gut microbiota.
PMID: 33172329
Autophagy · 2021
0.80
4
SMAD3 promotes autophagy dysregulation by triggering lysosome depletion in tubular epithelial cells in diabetic nephropathy.
PMID: 33043774
Autophagy · 2021
0.70
5
Targeting VPS18 hampers retromer trafficking of PD-L1 and augments immunotherapy.
PMID: 39413192
Sci Adv · 2024
0.60