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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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VPS36
vacuolar protein sorting 36 homolog
Chromosome 13 · 13q14.3
NCBI Gene: 51028Ensembl: ENSG00000136100.15HGNC: HGNC:20312UniProt: Q86VN1
57PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription FactorTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ubiquitin bindingcytosolplasma membranelate endosome membraneneurodegenerative diseaseviral diseaseAbnormality of the skeletal systemage-related macular degeneration
✦AI Summary

VPS36 encodes a core component of the ESCRT-II complex (endosomal sorting complex required for transport II) that functions in multivesicular body formation and protein sorting for lysosomal degradation 12. The protein directly interacts with other ESCRT-II components and mediates membrane recruitment through binding partners like RILP 1. VPS36 plays a critical role in regulating EGFR degradation by binding to and stabilizing the ESCRT-III association, affecting subsequent recruitment of deubiquitinating enzymes 2. Beyond endosomal sorting, VPS36 demonstrates cell-type-specific functions, particularly in lens development where it facilitates PI(3,4)P2-mediated cytokinetic abscission to prevent premature senescence and cataract formation 3. In disease contexts, VPS36 expression is frequently downregulated in advanced prostate cancer and correlates with poor patient outcomes 4. The protein also exhibits antiviral properties, as overexpression suppresses porcine epidemic diarrhea virus replication through interaction with viral ORF3 protein 5. Additionally, VPS36 has been identified as a candidate gene for novel human genetic diseases, suggesting broader clinical relevance 6.

Sources cited
1
VPS36 is a component of ESCRT-II complex and interacts with RILP to mediate membrane recruitment
PMID: 17010938
2
VPS36 regulates EGFR degradation by binding to and stabilizing ESCRT-III association
PMID: 38030597
3
VPS36 facilitates PI(3,4)P2-mediated cytokinetic abscission to prevent senescence and cataract formation
PMID: 34882480
4
VPS36 is downregulated in advanced prostate cancer and correlates with poor outcomes
PMID: 28197629
5
VPS36 overexpression suppresses viral replication through interaction with viral proteins
PMID: 31022991
6
VPS36 identified as candidate gene for novel human genetic diseases
PMID: 28600779
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
viral diseaseOpen Targets
0.46Moderate
Abnormality of the skeletal systemOpen Targets
0.40Weak
age-related macular degenerationOpen Targets
0.17Weak
retinitis pigmentosaOpen Targets
0.10Weak
Abnormality of the breastOpen Targets
0.09Suggestive
X-linked retinal dysplasiaOpen Targets
0.08Suggestive
Progressive cone dystrophyOpen Targets
0.07Suggestive
Breast hypertrophyOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.07Suggestive
choroidal dystrophy, central areolar, 1Open Targets
0.06Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.06Suggestive
Stargardt diseaseOpen Targets
0.06Suggestive
reticular dystrophy of the retinal pigment epitheliumOpen Targets
0.06Suggestive
age related macular degeneration 11Open Targets
0.06Suggestive
age related macular degeneration 2Open Targets
0.06Suggestive
age related macular degeneration 4Open Targets
0.06Suggestive
age related macular degeneration 6Open Targets
0.06Suggestive
age related macular degeneration 7Open Targets
0.06Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ELLProtein interaction100%VPS29Protein interaction100%VPS35Protein interaction100%CHMP3Protein interaction100%UBCProtein interaction100%RPS27AProtein interaction100%
Tissue Expression6 tissues
Heart
100%
Lung
67%
Ovary
66%
Liver
58%
Brain
49%
Bone Marrow
42%
Gene Interaction Network
Click a node to explore
VPS36ELLVPS29VPS35CHMP3UBCRPS27A
PROTEIN STRUCTURE
Preparing viewer…
PDB3CUQ · 2.61 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.64LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.45 [0.33–0.64]
RankingsWhere VPS36 stands among ~20K protein-coding genes
  • #8,030of 20,598
    Most Researched57
  • #4,517of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedVPS36
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
1.00
2
Structurally divergent and recurrently mutated regions of primate genomes.
PMID: 38428424
Cell · 2024
0.90
3
PI(3,4)P2-mediated cytokinetic abscission prevents early senescence and cataract formation.
PMID: 34882480
Science · 2021
0.80
4
RAB27A, RAB27B and VPS36 are downregulated in advanced prostate cancer and show functional relevance in prostate cancer cells.
PMID: 28197629
Int J Oncol · 2017
0.70
5
RILP interacts with VPS22 and VPS36 of ESCRT-II and regulates their membrane recruitment.
PMID: 17010938
Biochem Biophys Res Commun · 2006
0.60