Entity Details

Primary name PLVAP
Entity type gene
Source Source Link

Details

PrimaryID83483
RefseqGene
SymbolPLVAP
Nameplasmalemma vesicle associated protein
Chromosome19
Location19p13.11
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-04-27
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsPLVAP_HUMAN

GO terms

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GOName
GO:0000165 MAPK cascade
GO:0002693 positive regulation of cellular extravasation
GO:0005901 caveola
GO:0009986 cell surface
GO:0016021 integral component of membrane
GO:0032502 developmental process
GO:0033209 tumor necrosis factor-mediated signaling pathway
GO:0042802 identical protein binding
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
618183 OMIMDiarrhea 10, protein-losing enteropathy type (DIAR10)An autosomal recessive, congenital diarrheal disorder characterized by intractable secretory diarrhea with massive protein loss due to leaky fenestrated capillaries, severe hypoalbuminemia, hypogammaglobulinemia, hypertriglyceridemia, and electrolyte abnormalities. Disease severity is variable and death in infancy may occur in severe cases. Some patients show facial dysmorphic features, and cardiac and renal abnormalities. The disease is caused by variants affecting the gene represented in this entry.

Interactions

11 interactions