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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
VPS25
vacuolar protein sorting 25 homolog
Chromosome 17 Β· 17q21.2
NCBI Gene: 84313Ensembl: ENSG00000131475.8HGNC: HGNC:28122UniProt: Q9BRG1
60PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transcription FactorTransporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular exosomecytosolendosome membranenegative regulation of epidermal growth factor-activated receptor activityneurodegenerative diseaseviral diseasegliomahead and neck squamous cell carcinoma
✦AI Summary

VPS25 encodes a component of the ESCRT-II complex that is essential for endosomal protein sorting and multivesicular body formation 1. The protein is highly conserved across eukaryotic species and universally expressed in human tissues, indicating a fundamental role in cellular function 1. VPS25 functions in the endosomal sorting pathway by facilitating the degradation of ubiquitinated membrane receptors, with disruption leading to altered cell signaling 2. Loss of VPS25 function causes defective receptor downregulation, particularly affecting Notch signaling, which triggers non-autonomous cell proliferation and autonomous apoptosis 2. In development, VPS25 is critical for craniofacial morphogenesis, with hypomorphic mutations causing jaw hypoplasia, cleft palate, and other craniofacial anomalies through perturbation of NOTCH signaling 3. VPS25 has significant disease relevance in cancer, where it promotes tumor progression in head and neck squamous cell carcinoma by creating an immunosuppressive microenvironment and upregulating the PVR-TIGIT signaling axis 4. In glioma, VPS25 regulates cell cycle progression through JAK-STAT signaling and is associated with poor prognosis 5. Constitutional translocations involving VPS25 may predispose to myelodysplastic syndrome 6. These findings establish VPS25 as both a critical developmental regulator and potential therapeutic target in cancer.

Sources cited
1
VPS25 is an ESCRT-II component, highly conserved across eukaryotes, and universally expressed
PMID: 16889659
2
VPS25 is required for endosomal protein sorting and receptor downregulation, affecting Notch signaling
PMID: 16611691
3
VPS25 is essential for craniofacial development and NOTCH signaling regulation
PMID: 37573008
4
VPS25 promotes immunosuppression and tumor progression in head and neck cancer
PMID: 40149859
5
VPS25 regulates glioma cell cycle through JAK-STAT signaling
PMID: 34863175
6
VPS25 translocations may predispose to myelodysplastic syndrome
PMID: 38670586
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.53Moderate
viral diseaseOpen Targets
0.46Moderate
gliomaOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
Syndactyly type 2Open Targets
0.05Suggestive
polydactyly of a triphalangeal thumbOpen Targets
0.05Suggestive
syndactyly type 4Open Targets
0.05Suggestive
ovarian carcinomaOpen Targets
0.04Suggestive
Mesomelic dwarfism - cleft palate - camptodactylyOpen Targets
0.04Suggestive
mesomelic dwarfism-cleft palate-camptodactyly syndromeOpen Targets
0.04Suggestive
Triphalangeal thumb - polysyndactyly syndromeOpen Targets
0.04Suggestive
synpolydactyly type 1Open Targets
0.04Suggestive
Varicose veinsOpen Targets
0.04Suggestive
syndactyly-polydactyly-ear lobe syndromeOpen Targets
0.04Suggestive
polydactyly, postaxial, type A1Open Targets
0.04Suggestive
Jawad syndromeOpen Targets
0.04Suggestive
autosomal recessive omodysplasiaOpen Targets
0.04Suggestive
PolysyndactylyOpen Targets
0.04Suggestive
polysyndactyly 4Open Targets
0.04Suggestive
Pathogenic Variants1
NM_032353.4(VPS25):c.514G>A (p.Gly172Ser)Likely pathogenic
VPS25-related neurodevelopmental delay
β˜…β˜†β˜†β˜†β†’ Residue 172
View on ClinVar β†—
Related Genes
CHMP1AProtein interaction97%VPS4BProtein interaction97%IST1Protein interaction97%PDCD6IPProtein interaction97%CHMP2BProtein interaction97%VPS4AProtein interaction97%
Tissue Expression6 tissues
Liver
100%
Heart
68%
Bone Marrow
68%
Lung
67%
Brain
60%
Ovary
54%
Gene Interaction Network
Click a node to explore
VPS25CHMP1AVPS4BIST1PDCD6IPCHMP2BVPS4A
PROTEIN STRUCTURE
Preparing viewer…
PDB3HTU Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.02LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.49–1.02]
RankingsWhere VPS25 stands among ~20K protein-coding genes
  • #7,722of 20,598
    Most Researched60
  • #5,049of 5,498
    Most Pathogenic Variants1
  • #10,076of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedVPS25
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
VPS25 Promotes an Immunosuppressive Microenvironment in Head and Neck Squamous Cell Carcinoma.
PMID: 40149859
Biomolecules Β· 2025
1.00
2
vps25 mosaics display non-autonomous cell survival and overgrowth, and autonomous apoptosis.
PMID: 16611691
Development Β· 2006
0.90
3
ESCRT-dependent control of craniofacial morphogenesis with concomitant perturbation of NOTCH signaling.
PMID: 37573008
Dev Biol Β· 2023
0.80
4
Germline
PMID: 38670586
Cancer Genomics Proteomics Β· 2024
0.70
5
The ESCRT-II Subunit EAP20/VPS25 and the Bro1 Domain Proteins HD-PTP and BROX Are Individually Dispensable for Herpes Simplex Virus 1 Replication.
PMID: 31748394
J Virol Β· 2020
0.60