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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.
VPS51
VPS51 subunit of GARP complex
Chromosome 11 Β· 11q13.1
NCBI Gene: 738Ensembl: ENSG00000149823.11HGNC: HGNC:1172UniProt: Q9UID3
65PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
Golgi apparatusprotein bindingGARP complexEARP complexpontocerebellar hypoplasia type 13neurodegenerative diseaseneoplasmSepsis
✦AI Summary

VPS51 is a shared subunit of the GARP (Golgi-associated retrograde protein) and EARP (endosome-associated recycling protein) complexes, heterotetrameric tethering complexes that function at the trans-Golgi network and recycling endosomes respectively 1. VPS51 mediates retrograde transport from endosomes to the trans-Golgi network and promotes SNARE-dependent fusion of endosome-derived carriers, essential for acid hydrolase receptor trafficking and lysosomal biogenesis 1. The EARP complex associates with Rab4-positive endosomes to support recycling of transferrin receptor to the plasma membrane 1. VPS51 dysfunction disrupts multiple cellular processes: patient fibroblasts with VPS51 mutations exhibit altered cation-independent mannose 6-phosphate receptor distribution, lysosomal swelling, and impaired vesicular trafficking 1. A novel homozygous VPS51 variant (c.1511C>T; p.Thr504Met) causes severe neurodevelopmental disease with developmental delay, microcephaly, epilepsy, and intellectual disability, accompanied by decreased autophagy-related gene expression, disrupted mitochondrial metabolism, and increased mitochondria-lysosome contact sites 2. VPS51 mutations are associated with pontocerebellar hypoplasia 13 1. Additionally, GARP complex components including VPS51 are required for extracellular monkeypox virus formation, demonstrating roles in viral egress pathways 3.

Sources cited
1
VPS51 is a shared GARP/EARP subunit functioning in retrograde transport and endosomal fusion; mutations cause neurodevelopmental disorder with altered organellar distribution
PMID: 30624672
2
Novel VPS51 variant causes developmental delay, microcephaly, epilepsy; disrupts autophagy, mitochondrial metabolism, and organellar communication
PMID: 40565173
3
GARP complex including VPS51 is required for extracellular virus formation and viral egress mechanisms
PMID: 28331092
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
pontocerebellar hypoplasia type 13Open Targets
0.56Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
neoplasmOpen Targets
0.12Weak
SepsisOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.11Weak
non-small cell lung carcinomaOpen Targets
0.11Weak
acute respiratory distress syndromeOpen Targets
0.11Weak
chronic kidney diseaseOpen Targets
0.10Weak
malariaOpen Targets
0.10Weak
lung cancerOpen Targets
0.10Suggestive
oral squamous cell carcinomaOpen Targets
0.10Suggestive
atrial fibrillationOpen Targets
0.10Suggestive
COVID-19Open Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
small cell lung carcinomaOpen Targets
0.09Suggestive
systemic sclerodermaOpen Targets
0.09Suggestive
acute kidney injuryOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.09Suggestive
systemic lupus erythematosusOpen Targets
0.09Suggestive
Pontocerebellar hypoplasia 13UniProt
Pathogenic Variants3
NM_013265.4(VPS51):c.1468C>T (p.Arg490Cys)Pathogenic
Pontocerebellar hypoplasia, type 13|not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 490
NM_013265.4(VPS51):c.2232del (p.Asp745fs)Pathogenic
Pontocerebellar hypoplasia, type 13
β˜†β˜†β˜†β˜†2019β†’ Residue 745
NM_013265.4(VPS51):c.1421_1423del (p.Phe474del)Pathogenic
Pontocerebellar hypoplasia, type 13
β˜†β˜†β˜†β˜†2019β†’ Residue 474
View on ClinVar β†—
Related Genes
COG5Protein interaction100%STX16Protein interaction99%VAMP4Protein interaction97%EIPR1Protein interaction93%COG6Protein interaction91%SNAP29Protein interaction81%
Tissue Expression6 tissues
Ovary
100%
Brain
49%
Lung
48%
Liver
46%
Bone Marrow
33%
Heart
31%
Gene Interaction Network
Click a node to explore
VPS51COG5STX16VAMP4EIPR1COG6SNAP29
PROTEIN STRUCTURE
Preparing viewer…
PDB4J2C Β· 1.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.28LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.03 [0.82–1.28]
RankingsWhere VPS51 stands among ~20K protein-coding genes
  • #7,221of 20,598
    Most Researched65
  • #4,040of 5,498
    Most Pathogenic Variants3
  • #13,527of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedVPS51
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Enhancing cancer immunotherapy using antiangiogenics: opportunities and challenges.
PMID: 29508855
Nat Rev Clin Oncol Β· 2018
1.00
2
From Gene to Pathways: Understanding Novel Vps51 Variant and Its Cellular Consequences.
PMID: 40565173
Int J Mol Sci Β· 2025
0.90
3
[A case report and literature review of pontocerebellar hypoplasia type 13 combined with abnormal liver function caused by VPS51 gene variation].
PMID: 38733192
Zhonghua Gan Zang Bing Za Zhi Β· 2024
0.80
4
Interleukin-6 Stimulates Defective Angiogenesis.
PMID: 26081809
Cancer Res Β· 2015
0.70
5
Ocular Pharmacodynamics of Intravitreal Faricimab in Patients With Neovascular Age-Related Macular Degeneration or Diabetic Macular Edema.
PMID: 39535745
Transl Vis Sci Technol Β· 2024
0.60