PLVAP

Chr 19p13.11

plasmalemma vesicle associated protein

Aliases:: gp68, PV-1, PV1, FELS
MANE:: ENST00000252590.9

OMIM: 607647 ↗NCBI: 83483 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PLVAP · Q9BX97

v62025-08-01

Predicted Aligned Error matrix for PLVAP — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.7/ 100

Confident

442 residues

Confidence breakdown

Very high(≥ 90)47%
Confident(70–90)35%
Low(50–70)8%
Very low(< 50)11%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

CAKUT
BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea
BIALLELIC, autosomal or pseudoautosomal
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomal
VACTERL-like phenotypes
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Congenital chronic diarrhea with protein-losing enteropathy
0.69
hereditary disease
0.19
neoplasm
0.10
food allergy
0.09
glioma
0.08
central nervous system cancer
0.08
hepatocellular carcinoma
0.07
congenital secretory chloride diarrhea 1
0.06
Hyperlipoproteinemia type 1
0.06
pneumoconiosis
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Plasmalemma vesicle-associated protein

Endothelial cell-specific membrane protein involved in the formation of the diaphragms that bridge endothelial fenestrae. It is also required for the formation of stomata of caveolae and transendothelial channels. Functions in microvascular permeability, endothelial fenestrae contributing to the passage of water and solutes and regulating transcellular versus paracellular flow in different organs. Plays a specific role in embryonic development