Aliases for PLVAP Gene

Aliases for PLVAP Gene

  • Plasmalemma Vesicle Associated Protein 2 3 5
  • Fenestrated-Endothelial Linked Structure Protein; PV-1 Protein 2 3
  • Fenestrated Endothelial-Linked Structure Protein 3 4
  • Plasmalemma Vesicle-Associated Protein 3 4
  • Plasmalemma Vesicle Protein 1 3 4
  • FELS 3 4
  • PV-1 3 4
  • PV1 3 4
  • DIAR10 3
  • Gp68 3

External Ids for PLVAP Gene

Previous GeneCards Identifiers for PLVAP Gene

  • GC19M017956
  • GC19M017855
  • GC19M017307
  • GC19M017323
  • GC19M017462
  • GC19M017028

Summaries for PLVAP Gene

GeneCards Summary for PLVAP Gene

PLVAP (Plasmalemma Vesicle Associated Protein) is a Protein Coding gene. Diseases associated with PLVAP include Diarrhea 10, Protein-Losing Enteropathy Type and Congenital Diarrhea 7 With Exudative Enteropathy. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity.

UniProtKB/Swiss-Prot Summary for PLVAP Gene

  • 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.

Gene Wiki entry for PLVAP Gene

Additional gene information for PLVAP Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLVAP Gene

Genomics for PLVAP Gene

GeneHancer (GH) Regulatory Elements for PLVAP Gene

Promoters and enhancers for PLVAP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J017377 Promoter/Enhancer 1.6 EPDnew Ensembl CraniofacialAtlas dbSUPER 500.7 +0.2 248 1 NR2F2 NCOR1 NFIC MYNN POLR2G TAL1 FOS CTCF HDAC2 FOXM1 PLVAP BISPR piR-50437-341
GH19J017379 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 -1.8 -1837 1.2 ZBTB7A TRIM25 NR2F2 GABPB1 NR2C1 NR2F1 NR2F6 NR2C2 EP300 SP1 LOC105372298 PLVAP lnc-PLVAP-1 BISPR MRPL34
GH19J017378 Enhancer 0.3 CraniofacialAtlas dbSUPER 500.7 -0.8 -843 0.4 LOC105372298 PLVAP lnc-PLVAP-1 BISPR MRPL34
GH19J017333 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 22.8 +41.3 41256 6.2 HNRNPK ZBTB40 ZNF217 EP300 CTCF ZSCAN5C SIN3A NRF1 TCF12 MYC GTPBP3 ANO8 HSALNG0124507 lnc-DDA1-1 CHERP ENSG00000268743 C19orf44 ENSG00000269578 IQCN SIN3B
GH19J018150 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.6 -777.4 -777388 8.1 FOXK2 ZBTB40 ZNF217 CTCF SIN3A NRF1 POLR2G SP1 NCOR1 RBAK ENSG00000268173 PIK3R2 piR-59059 PDE4C MPV17L2 PLVAP IFI30 ENSG00000269145 RF00017-2890 MAST3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLVAP on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLVAP

Top Transcription factor binding sites by QIAGEN in the PLVAP gene promoter:
  • AhR
  • AP-4
  • AREB6
  • Arnt
  • Cdc5
  • Chx10
  • GATA-2
  • Pax-4a
  • S8
  • Spz1

Genomic Locations for PLVAP Gene

Genomic Locations for PLVAP Gene
chr19:17,351,448-17,377,349
(GRCh38/hg38)
Size:
25,902 bases
Orientation:
Minus strand
chr19:17,462,257-17,488,159
(GRCh37/hg19)
Size:
25,903 bases
Orientation:
Minus strand

Genomic View for PLVAP Gene

Genes around PLVAP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLVAP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLVAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLVAP Gene

Proteins for PLVAP Gene

  • Protein details for PLVAP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BX97-PLVAP_HUMAN
    Recommended name:
    Plasmalemma vesicle-associated protein
    Protein Accession:
    Q9BX97
    Secondary Accessions:
    • Q86VP0
    • Q8N8Y0
    • Q8ND68
    • Q8TER8
    • Q9BZD5

    Protein attributes for PLVAP Gene

    Size:
    442 amino acids
    Molecular mass:
    50594 Da
    Quaternary structure:
    • Homodimer.

neXtProt entry for PLVAP Gene

Post-translational modifications for PLVAP Gene

  • Glycosylation at Asn83, Asn89, Asn113, and Asn151
  • Modification sites at PhosphoSitePlus

Other Protein References for PLVAP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PLVAP Gene

Domains & Families for PLVAP Gene

Gene Families for PLVAP Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PLVAP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PLVAP Gene

GenScript: Design optimal peptide antigens:
  • Plasmalemma vesicle protein 1 (PLVAP_HUMAN)
genes like me logo Genes that share domains with PLVAP: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PLVAP Gene

Function for PLVAP Gene

Molecular function for PLVAP Gene

UniProtKB/Swiss-Prot Function:
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.
UniProtKB/Swiss-Prot Induction:
By phorbol myristate acetate (PMA) or VEGF in endothelial cell culture.

Phenotypes From GWAS Catalog for PLVAP Gene

Gene Ontology (GO) - Molecular Function for PLVAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19420356
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with PLVAP: view
genes like me logo Genes that share phenotypes with PLVAP: view

Human Phenotype Ontology for PLVAP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PLVAP Gene

MGI Knock Outs for PLVAP:
  • Plvap Plvap<tm1.2Rvst>
  • Plvap Plvap<tm1e(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for PLVAP

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for PLVAP Gene

Localization for PLVAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLVAP Gene

Cell membrane; Single-pass type II membrane protein. Membrane, caveola; Single-pass type II membrane protein. Cytoplasm, perinuclear region. Note=Membrane-associated protein of caveolae. Found in fenestral and stomatal diaphragms in fenestrated endothelia and transendothelial channels. Also colocalized with CAV1 in perinuclear region. {ECO:0000250 UniProtKB:Q9WV78}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLVAP gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLVAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0005901 colocalizes_with caveola IEA,IDA 19420356
GO:0009986 cell surface IDA 15155804
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PLVAP: view

Pathways & Interactions for PLVAP Gene

PathCards logo

SuperPathways for PLVAP Gene

No Data Available

Gene Ontology (GO) - Biological Process for PLVAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade IDA 15155804
GO:0002693 positive regulation of cellular extravasation IMP 19420356
GO:0032502 developmental process ISS --
GO:0033209 tumor necrosis factor-mediated signaling pathway IDA 19420356
GO:0070528 NOT protein kinase C signaling IDA 15155804
genes like me logo Genes that share ontologies with PLVAP: view

No data available for Pathways by source and SIGNOR curated interactions for PLVAP Gene

Drugs & Compounds for PLVAP Gene

No Compound Related Data Available

Transcripts for PLVAP Gene

mRNA/cDNA for PLVAP Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLVAP Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7
SP1:
SP2:
SP3: -

Relevant External Links for PLVAP Gene

GeneLoc Exon Structure for
PLVAP

Expression for PLVAP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLVAP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLVAP Gene

This gene is overexpressed in Thyroid (x5.4).

Protein differential expression in normal tissues from HIPED for PLVAP Gene

This gene is overexpressed in Pancreas (11.6), Stomach (6.7), Gallbladder (6.2), and Placenta (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PLVAP Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLVAP

SOURCE GeneReport for Unigene cluster for PLVAP Gene:

Hs.107125

mRNA Expression by UniProt/SwissProt for PLVAP Gene:

Q9BX97-PLVAP_HUMAN
Tissue specificity: Expressed in lung, kidney, heart, aorta, placenta, muscle, pituitary gland, adrenals, mammary gland, bladder, lymph node, bone marrow, trachea, digestive tract, liver and tumor-associated endothelium.

Evidence on tissue expression from TISSUES for PLVAP Gene

  • Kidney(4.5)
  • Spleen(4.5)
  • Lymph node(4.4)
  • Nervous system(4.2)
  • Heart(2.5)
  • Blood(2.1)
  • Muscle(2.1)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with PLVAP: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLVAP Gene

Orthologs for PLVAP Gene

This gene was present in the common ancestor of chordates.

Orthologs for PLVAP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLVAP 31 30
  • 99.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PLVAP 31 30
  • 84.58 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLVAP 31 30
  • 80.24 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plvap 30
  • 71 (n)
mouse
(Mus musculus)
Mammalia Plvap 17 31 30
  • 69.94 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 54 (a)
OneToMany
-- 31
  • 38 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia PLVAP 31
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLVAP 31
  • 24 (a)
OneToOne
Species where no ortholog for PLVAP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PLVAP Gene

ENSEMBL:
Gene Tree for PLVAP (if available)
TreeFam:
Gene Tree for PLVAP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLVAP: view image

Paralogs for PLVAP Gene

No data available for Paralogs for PLVAP Gene

Variants for PLVAP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLVAP Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
746471 Likely Benign: not provided 17,365,817(-) C/T SYNONYMOUS_VARIANT
791512 Benign: not provided 17,360,825(-) G/A MISSENSE_VARIANT
rs1568378665 Pathogenic: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE 17,377,188(-) A/G MISSENSE_VARIANT
rs199712527 Pathogenic: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE 17,365,477(-) G/A NONSENSE
rs761158492 Pathogenic: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE 17,365,393(-) G/A NONSENSE

Additional dbSNP identifiers (rs#s) for PLVAP Gene

Structural Variations from Database of Genomic Variants (DGV) for PLVAP Gene

Variant ID Type Subtype PubMed ID
nsv1109170 CNV deletion 24896259
nsv833768 CNV loss 17160897

Variation tolerance for PLVAP Gene

Residual Variation Intolerance Score: 22.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.44; 28.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLVAP Gene

Human Gene Mutation Database (HGMD)
PLVAP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLVAP

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLVAP Gene

Disorders for PLVAP Gene

MalaCards: The human disease database

(12) MalaCards diseases for PLVAP Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
diarrhea 10, protein-losing enteropathy type
  • diar10
congenital diarrhea 7 with exudative enteropathy
  • congenital chronic diarrhea with exudative enteropathy
protein-losing enteropathy
  • enteropathy, exudative
diarrhea
  • diarrhea of presumed infectious origin
secretory diarrhea
- elite association - COSMIC cancer census association via MalaCards
Search PLVAP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PLVAP_HUMAN
  • Diarrhea 10, protein-losing enteropathy type (DIAR10) [MIM:618183]: 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. {ECO:0000269 PubMed:26207260, ECO:0000269 PubMed:29661969, ECO:0000269 PubMed:29875123}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PLVAP

genes like me logo Genes that share disorders with PLVAP: view

No data available for Genatlas for PLVAP Gene

Publications for PLVAP Gene

  1. cDNA and protein sequence, genomic organization, and analysis of cis regulatory elements of mouse and human PLVAP genes. (PMID: 11401446) Stan RV … Palade GE (Genomics 2001) 2 3 4 23 54
  2. Plasmalemmal vesicle-associated protein (PLVAP) is expressed by tumour endothelium and is upregulated by vascular endothelial growth factor-A (VEGF). (PMID: 15971170) Strickland LA … Koeppen H (The Journal of pathology 2005) 3 4 23 54
  3. PV1 is a key structural component for the formation of the stomatal and fenestral diaphragms. (PMID: 15155804) Stan RV … Niesman IR (Molecular biology of the cell 2004) 3 4 23 54
  4. Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy. (PMID: 29661969) Broekaert IJ … Cirak S (Journal of medical genetics 2018) 3 4 54
  5. The prototype endothelial marker PAL-E is a leukocyte trafficking molecule. (PMID: 19420356) Keuschnigg J … Jalkanen S (Blood 2009) 3 23 54

Products for PLVAP Gene

Sources for PLVAP Gene