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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PLVAP
plasmalemma vesicle associated protein
Chromosome 19 Β· 19p13.11
NCBI Gene: 83483Ensembl: ENSG00000130300.10HGNC: HGNC:13635UniProt: Q9BX97
36PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
caveolaprotein bindingMAPK cascadepositive regulation of cellular extravasationCongenital chronic diarrhea with protein-losing enteropathygenetic disorderneoplasmfood allergy
✦AI Summary

PLVAP (plasmalemma vesicle-associated protein) is an endothelial cell-specific membrane protein essential for forming diaphragms that bridge endothelial fenestrae and regulate microvascular permeability 1. As the only known protein component of endothelial microdomains, PLVAP controls transendothelial channels and caveolar stomata, governing transcellular versus paracellular flow and the passage of water and solutes across different vascular beds 1. PLVAP expression marks distinct endothelial cell subtypes across tissues: in liver, PLVAP+ endothelial cells expand in cirrhosis and hepatocellular carcinoma within fibrotic and immunosuppressive microenvironments 23, while in pancreatic islets, PLVAP characterizes islet-specific endothelial cells with angiocrine functions 4. Beyond structural roles, PLVAP functions in regulating vascular permeability, leukocyte migration, and immune modulation 5. In heart failure, PLVAP+ endothelial cells associate with pro-inflammatory responses and fibrosis 6. Mechanistically, hepatic stellate cell-expressed PLVAP regulates fatty acid metabolism through PLVAP-diaphragmed caveolae along the sinusoidal lumen 7. PLVAP dysregulation is implicated in cancer, traumatic spinal cord injury, ischemic brain disease, and diabetic complications 1, positioning it as a potential therapeutic target across multiple pathologies.

Sources cited
1
PLVAP is the only known protein component of diaphragms in endothelial microdomains (fenestrae, caveolae, transendothelial channels) and regulates vascular permeability; upregulation observed in cancer, spinal cord injury, ischemic brain disease, and diabetic retinopathy
PMID: 36781482
2
PLVAP+ endothelial cells expand in liver cirrhosis, are topographically restricted to fibrotic niches, and enhance leucocyte transmigration
PMID: 31597160
3
PLVAP/VEGFR2+ fetal-associated endothelial cells re-emerge in hepatocellular carcinoma tumor microenvironment as part of onco-fetal reprogramming
PMID: 32976798
4
PLVAP identified as universal tumor endothelial cell marker alongside ACKR1 and IGFBP3; TECs exhibit immunomodulatory properties beyond angiogenesis
PMID: 37349410
5
PLVAP+ endothelial cells linked to fibrosis and pro-inflammatory response in heart failure pathophysiology
PMID: 40335066
6
Hepatic stellate cell PLVAP localizes to caveolae along sinusoidal lumen and controls hepatic fatty acid utilization during fasting metabolism
PMID: 40037362
7
PLVAP is structural gene of islet-specific endothelial cells in pancreas; PLVAP expression disrupted in diabetes
PMID: 39915484
8
PLVAP+ endothelial cells constitute onco-fetal neighborhoods in hepatocellular carcinoma associated with relapse and immunotherapy response
PMID: 38168935
Disease Associationsβ“˜21
Congenital chronic diarrhea with protein-losing enteropathyOpen Targets
0.69Moderate
genetic disorderOpen Targets
0.19Weak
neoplasmOpen Targets
0.10Weak
food allergyOpen Targets
0.09Suggestive
gliomaOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
congenital secretory chloride diarrhea 1Open Targets
0.05Suggestive
pneumoconiosisOpen Targets
0.05Suggestive
Hb Bart's hydrops fetalisOpen Targets
0.05Suggestive
congenital analbuminemiaOpen Targets
0.05Suggestive
Blackfan-Diamond anemiaOpen Targets
0.05Suggestive
Hyperlipoproteinemia type 1Open Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
diabetic nephropathyOpen Targets
0.04Suggestive
congenital nephrotic syndrome, Finnish typeOpen Targets
0.04Suggestive
chylomicron retention diseaseOpen Targets
0.04Suggestive
transaldolase deficiencyOpen Targets
0.04Suggestive
lymphatic malformation 7Open Targets
0.03Suggestive
nephrotic syndrome, type 24Open Targets
0.03Suggestive
hydrops fetalisOpen Targets
0.03Suggestive
Diarrhea 10, protein-losing enteropathy typeUniProt
Pathogenic Variants8
NM_031310.3(PLVAP):c.1072C>T (p.Arg358Ter)Pathogenic
Diarrhea 10, protein-losing enteropathy type|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 358
NM_031310.3(PLVAP):c.847del (p.Val283fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 283
NM_031310.3(PLVAP):c.988C>T (p.Gln330Ter)Pathogenic
Diarrhea 10, protein-losing enteropathy type|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 330
NM_031310.3(PLVAP):c.356dup (p.Cys119fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 119
NM_031310.3(PLVAP):c.670_676del (p.Leu224fs)Likely pathogenic
See cases
β˜…β˜†β˜†β˜†2023β†’ Residue 224
NM_031310.3(PLVAP):c.634C>T (p.Gln212Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 212
NM_031310.3(PLVAP):c.1086del (p.Lys363fs)Likely pathogenic
Diarrhea 10, protein-losing enteropathy type
β˜…β˜†β˜†β˜†β†’ Residue 363
NM_031310.3(PLVAP):c.101T>C (p.Leu34Pro)Pathogenic
Diarrhea 10, protein-losing enteropathy type
β˜†β˜†β˜†β˜†2018β†’ Residue 34
View on ClinVar β†—
Related Genes
BST2Protein interaction75%ZSCAN1Protein interaction74%MZF1Protein interaction73%ACKR1Co-mentioned in literature30%TNFRSF17Shared pathway20%TCF24Shared pathway20%
Tissue Expression6 tissues
Heart
100%
Lung
39%
Brain
20%
Ovary
19%
Liver
13%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
PLVAPBST2ZSCAN1MZF1ACKR1TNFRSF17TCF24
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BX97
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.01LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.76 [0.58–1.01]
RankingsWhere PLVAP stands among ~20K protein-coding genes
  • #10,836of 20,598
    Most Researched36
  • #3,112of 5,498
    Most Pathogenic Variants8
  • #9,918of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedPLVAP
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Resolving the fibrotic niche of human liver cirrhosis at single-cell level.
PMID: 31597160
Nature Β· 2019
1.00
2
Onco-fetal Reprogramming of Endothelial Cells Drives Immunosuppressive Macrophages in Hepatocellular Carcinoma.
PMID: 32976798
Cell Β· 2020
0.90
3
Understanding tumour endothelial cell heterogeneity and function from single-cell omics.
PMID: 37349410
Nat Rev Cancer Β· 2023
0.80
4
The role of PLVAP in endothelial cells.
PMID: 36781482
Cell Tissue Res Β· 2023
0.70
5
Presence of onco-fetal neighborhoods in hepatocellular carcinoma is associated with relapse and response to immunotherapy.
PMID: 38168935
Nat Cancer Β· 2024
0.60