VEGFA

Gene Information
 
Gene Symbol
VEGFA
 
Aliases
MVCD1, VEGF, VPF
 
Entrez Gene ID
 
Gene Name
Vascular endothelial growth factor A
 
Chromosomal Location
6p12
 
HGNC ID
 
Summary
This gene is a member of the PDGF/VEGF growth factor family and encodes a protein that is often found as a disulfide linked homodimer. This protein is a glycosylated mitogen that specifically acts on endothelial cells and has various effects, including mediating increased vascular permeability, inducing angiogenesis, vasculogenesis and endothelial cell growth, promoting cell migration, and inhibiting apoptosis. Elevated levels of this protein is linked to POEMS syndrome, also known as Crow-Fukase syndrome. Mutations in this gene have been associated with proliferative and nonproliferative diabetic retinopathy. Alternatively spliced transcript variants, encoding either freely secreted or cell-associated isoforms, have been characterized. There is also evidence for the use of non-AUG (CUG) translation initiation sites upstream of, and in-frame with the first AUG, leading to additional isoforms. (provided by RefSeq, Jul 2008)
 
GeneCards ID
 
UniGene
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0001525 Biological process Angiogenesis IDA 11427521
GO:0001570 Biological process Vasculogenesis TAS 15015550
GO:0001666 Biological process Response to hypoxia IDA 16490744
GO:0002575 Biological process Basophil chemotaxis IDA 17082651
GO:0002687 Biological process Positive regulation of leukocyte migration TAS 1312256
Protein Information
 
Protein Name
Vascular permeability factor , vascular endothelial growth factor A, VEGF , VPF , vascular endothelial growth factor , MVCD1 , VEGF-A , Vascular permeability factor
 
Function
Growth factor active in angiogenesis, vasculogenesis and endothelial cell growth. Induces endothelial cell proliferation, promotes cell migration, inhibits apoptosis and induces permeabilization of blood vessels. Binds to the FLT1/VEGFR1 and KDR/VEGFR2 receptors, heparan sulfate and heparin. NRP1/Neuropilin-1 binds isoforms VEGF-165 and VEGF-145. Isoform VEGF165B binds to KDR but does not activate downstream signaling pathways, does not activate angiogenesis and inhibits tumor growth
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
Accessions
IPR000072, IPR023581
 
Pfam
Pfam Accession Pfam ID
PF00341 PDGF PDGF/VEGF domain
PF14554 VEGF_C VEGF heparin-binding domain
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Cardiovascular diseases 21628302
Ovarian hyperstimulation syndrome (OHSS) 21646367, 12749434, 19330612, 9797093, 9572428
Polycystic ovary syndrome (PCOS) 17953946, 15734758, 15653207, 10973659
   
References
 
Primary:

Evidences for the existence of a low dopaminergic tone in polycystic ovarian syndrome: implications for OHSS development and treatment.

Gomez Raul, Ferrero Hortensia, Delgado-Rosas Francisco, Gaytan Maria, Morales Concepcion, Zimmermann Ralf C, Simon Carlos, Gaytan Francisco, Pellicer Antonio
Fundacion IVI, Institituto Universitario IVI/Fundacion Investigacion Clinico de Valencia (INCLIVA), 46015 Valencia, Spain.
J Clin Endocrinol Metab. 2011 Aug;96(8):2484-92. Epub 2011 Jun 6.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
Drd2,VEGFR-2 
Ovarian hyperstimulation syndrome 
 
Rotterdam criteria 
Related 
 
Decreased dopaminergic tone as well as deregulated Drd2 signaling might explain higher VEGF and vascularization leading to increased ovarian hyperstimulation syndrome risk in PCOS 
IGF-1 
Ovarian hyperstimulation syndrome 
 
Basedon clinical maifestations and ultrasound criteria 
Related 
 
Higher serum levels of VEGF and IGF-1 may explain the increased vascularity that was demonstrated by Doppler blood flow measurements in PCOS 
Angiopoietin-2 
Oxidative stress 
 
Rotterdam criteria 
Related 
 
Concentrations of VEGF were higher among obese subjects with PCOS 
 
Ovarian hyperstimulation syndrome 
 
 
Related 
University of Pisa-Italy 30 PCOS patients and 20 controls undergoing In vitro fertilisation (IVF) 
The increase in VEGF bioactivity in PCOS patients undergoing IVF was not only because of increasing levels of VEGF but also to decreasing levels of its soluble receptor.  
 
 
Novel SNP at +9812 site, one known SNP at +13553 site, and one selected haplotype (ht4) 
Rotterdam criteria 
Related 
Korean- 134 PCOS and 100 controls 
The study concludes that one novel SNP at +9812 site, one known SNP at +13553 site, and one selected haplotype in the VEGF gene have a high possibility of significant associations with the pathogenesis of PCOS in a Korean population 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
26178718
Developmental Programming: Does Prenatal Steroid Excess Disrupt the Ovarian VEGF System in Sheep? 
Animal study 
25590243
Metformin regulates ovarian angiogenesis and follicular development in a female polycystic ovary syndrome rat model. 
Effect of treatment 
25106940, PMC4171416
The VEGF +405 G>C 5' untranslated region polymorphism and risk of PCOS: a study in the South Indian Women. 
Clinical study 
24889290
Platelet-derived growth factor BB and DD and angiopoietin1 are altered in follicular fluid from polycystic ovary syndrome patients. 
Clinical study 
24144948
Advanced glycation end products as an upstream molecule triggers ROS-induced sFlt-1 production in extravillous trophoblasts: a novel bridge between oxidative stress and preeclampsia. 
In vitro 

 

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