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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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VPS37D
VPS37D subunit of ESCRT-I
Chromosome 7 · 7q11.23
NCBI Gene: 155382Ensembl: ENSG00000176428.7HGNC: HGNC:18287UniProt: Q86XT2
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingESCRT I complexextracellular exosomeubiquitin-dependent protein catabolic process via the multivesicular body sorting pathwayHIV infectionviral diseasemathematical abilitytype 2 diabetes mellitus
✦AI Summary

VPS37D is a component of the ESCRT-I complex, a critical regulator of vesicular trafficking and endocytic cargo sorting 1. As part of the ESCRT machinery, VPS37D functions in multivesicular body formation and the ubiquitin-dependent sorting of endocytic cargos for degradation 2. The protein also participates in membrane fission, protein transport to vacuoles, and viral budding via host ESCRT complexes 1. In disease contexts, VPS37D dysregulation has emerged as oncologically significant. Pan-cancer analysis reveals that abnormal ESCRT expression, including VPS37D, correlates with poor prognosis in breast cancer, adrenocortical carcinoma, bladder urothelial carcinoma, and cervical cancer 1. VPS37D shows particular prognostic value in breast cancer, where altered expression associates with tumor microenvironment composition and immune cell infiltration 1. Additionally, VPS37D has been identified in gastric and colorectal cancers with microsatellite instability 3, suggesting involvement in microsatellite instability-associated malignancies. In keratoconus, downregulation of VPS37D mRNA occurs alongside other ESCRT-I alterations, potentially contributing to abnormal exosome biogenesis 2. Gene disruption through chr7 has also been documented in neurodevelopmental disease 4. These findings position VPS37D as a potential biomarker for early cancer detection and prognosis assessment, while also implicating ESCRT dysregulation in non-neoplastic pathology.

Sources cited
1
VPS37D is an ESCRT family member with differential expression across cancers, associated with poor prognosis in multiple cancer types and immune microenvironment modulation
PMID: 40230849
2
VPS37D mRNA is downregulated in keratoconus corneal stromal cells, affecting ESCRT-I complex function in multivesicular body formation and exosome biogenesis
PMID: 39890050
3
VPS37D contains mononucleotide repeats susceptible to frameshift mutations in gastric and colorectal cancers with microsatellite instability
PMID: 21733561
4
VPS37D can be truncated by chromoanagenesis-related chromosomal rearrangements in neurodevelopmental disease
PMID: 35933106
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
HIV infectionOpen Targets
0.53Moderate
viral diseaseOpen Targets
0.46Moderate
mathematical abilityOpen Targets
0.32Weak
type 2 diabetes mellitusOpen Targets
0.30Weak
X-linked retinal dysplasiaOpen Targets
0.05Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.03Suggestive
Intrahepatic cholestasis of pregnancyOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
nervous system diseaseOpen Targets
0.01Suggestive
small cell lung carcinomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
Invasive Breast CarcinomaOpen Targets
0.00Suggestive
Treacher-Collins syndromeOpen Targets
0.00Suggestive
triple-negative breast cancerOpen Targets
0.00Suggestive
colorectal cancerOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
urinary bladder carcinomaOpen Targets
0.00Suggestive
microcephalyOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
VPS37CProtein interaction96%VPS37AProtein interaction96%CHMP2BProtein interaction93%CHMP2AProtein interaction93%CHMP4AProtein interaction93%CHMP3Protein interaction93%
Tissue Expression6 tissues
Liver
100%
Brain
90%
Ovary
62%
Heart
29%
Bone Marrow
21%
Lung
9%
Gene Interaction Network
Click a node to explore
VPS37DVPS37CVPS37ACHMP2BCHMP2ACHMP4ACHMP3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q86XT2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.99LoF Tolerant
pLIⓘ
0.26Tolerant
Observed/Expected LoF0.43 [0.21–0.99]
RankingsWhere VPS37D stands among ~20K protein-coding genes
  • #14,063of 20,598
    Most Researched21
  • #9,448of 17,882
    Most Constrained (LOEUF)0.99
Genes detectedVPS37D
Sources retrieved5 papers
Response time—
📄 Sources
5
1
ESCRT may function as a tumor biomarker, transitioning from pan-cancer analysis to validation within breast cancer.
PMID: 40230849
Front Immunol · 2025
1.00
2
A chromoanagenesis-driven ultra-complex t(5;7;21)dn truncates neurodevelopmental genes in a disabled boy as revealed by whole-genome sequencing.
PMID: 35933106
Eur J Med Genet · 2022
0.80
3
Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.
PMID: 19897463
J Med Genet · 2010
0.60
4
Corneal stromal cells from patients with keratoconus exhibit alterations in the ESCRT-dependent machinery responsible for multivesicular body formation.
PMID: 39890050
Exp Eye Res · 2025
0.40
5
Frameshift mutations of vacuolar protein sorting genes in gastric and colorectal cancers with microsatellite instability.
PMID: 21733561
Hum Pathol · 2012
0.20