PLVAP (plasmalemma vesicle associated protein)

2007-02-01  

Identity

HGNC
PLVAP
LOCATION
19p13.11
LOCUSID
83483
ALIAS
DIAR10,FELS,PV-1,PV1,gp68
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 83483
MIM: 607647
HGNC: 13635
Ensembl: ENSG00000130300

Variants:

dbSNP: 83483
ClinVar: 83483
TCGA: ENSG00000130300
COSMIC: PLVAP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130300ENST00000252590Q9BX97
ENSG00000130300ENST00000595816M0QXT5
ENSG00000130300ENST00000599426M0R310

Expression (GTEx)

0
100
200
300
400
500
600
700
800
900
1000
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
151558042004PV1 is a key structural component for the formation of the stomatal and fenestral diaphragms.36
192849672009Altered expression of genes related to blood-retina barrier disruption in streptozotocin-induced diabetes.30
194203562009The prototype endothelial marker PAL-E is a leukocyte trafficking molecule.30
162783832005Plasmalemmal vesicle associated protein-1 is a novel marker implicated in brain tumor angiogenesis.28
247039082014Molecular analysis of blood-retinal barrier loss in the Akimba mouse, a model of advanced diabetic retinopathy.22
222004862012A novel co-culture model of the blood-retinal barrier based on primary retinal endothelial cells, pericytes and astrocytes.21
268782082016Plasmalemma Vesicle-Associated Protein Has a Key Role in Blood-Retinal Barrier Loss.9
226277682012PV-1 is recognized by the PAL-E antibody and forms complexes with NRP-1.5
296619692018Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy.5
209799492010Histopathological manifestations of membranoproliferative glomerulonephritis and glomerular expression of plasmalemmal vesicle-associated protein-1 in a patient with polycythemia vera.2

Citation

Dessen P

PLVAP (plasmalemma vesicle associated protein)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46160/plvap