VEGFA

Gene Information
 
Gene Symbol
VEGFA
 
Aliases
MVCD1, VEGF, VPF
 
Entrez Gene ID
 
Gene Name
Vascular endothelial growth factor A
 
Chromosomal Location
6p21.1
 
HGNC ID
 
Summary
This gene is a member of the PDGF/VEGF growth factor family. It encodes a heparin-binding protein, which exists as a disulfide-linked homodimer. This growth factor induces proliferation and migration of vascular endothelial cells, and is essential for both physiological and pathological angiogenesis. Disruption of this gene in mice resulted in abnormal embryonic blood vessel formation. This gene is upregulated in many known tumors and its expression is correlated with tumor stage and progression. Elevated levels of this protein are found in patients with POEMS syndrome, also known as Crow-Fukase syndrome. Allelic variants of this gene have been associated with microvascular complications of diabetes 1 (MVCD1) and atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been described. There is also evidence for alternative translation initiation from upstream non-AUG (CUG) codons resulting in additional isoforms. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is antiangiogenic. Expression of some isoforms derived from the AUG start codon is regulated by a small upstream open reading frame, which is located within an internal ribosome entry site. [provided by RefSeq, Nov 2015]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0000122 Biological process Negative regulation of transcription by RNA polymerase II IDA 18093989
GO:0001525 Biological process Angiogenesis IBA 21873635
GO:0001525 Biological process Angiogenesis IDA 11427521, 21771332
GO:0001570 Biological process Vasculogenesis TAS 15015550
GO:0001666 Biological process Response to hypoxia IBA 21873635
Protein Information
 
Protein Name
Vascular endothelial growth factor A, vascular endothelial growth factor A121, vascular endothelial growth factor A165, 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. Binding to NRP1 receptor initiates a signaling pathway needed for motor neuron axon guidance and cell body migration, including for the caudal migration of facial motor neurons from rhombomere 4 to rhombomere 6 during embryonic development (By similarity).
 
Refseq Proteins
 
UniProt
 
PDB
Pathways
 
KEGG
 
Reactome
 

EGFR tyrosine kinase inhibitor resistance
MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
HIF-1 signaling pathway
PI3K-Akt signaling pathway
VEGF signaling pathway
Focal adhesion
Relaxin signaling pathway
AGE-RAGE signaling pathway in diabetic complications
Human cytomegalovirus infection
Human papillomavirus infection
Kaposi sarcoma-associated herpesvirus infection
Pathways in cancer
Proteoglycans in cancer
MicroRNAs in cancer
Renal cell carcinoma
Pancreatic cancer
Bladder cancer
Rheumatoid arthritis
Fluid shear stress and atherosclerosis

 

Platelet degranulation
Regulation of gene expression by Hypoxia-inducible Factor
Signaling by VEGF
VEGF ligand-receptor interactions
VEGF binds to VEGFR leading to receptor dimerization
VEGFA-VEGFR2 Pathway
VEGFR2 mediated cell proliferation
Interleukin-4 and Interleukin-13 signaling
TFAP2 (AP-2) family regulates transcription of growth factors and their receptors

Interactions
 
STRING MINT IntAct
ENSP00000357255 P02818
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Blood Disorders
Thrombotic Microangiopathies
Cardiovascular Diseases
Arteriosclerosis
Heart Failure
Myocardial Ischemia
Retinal Vein Occlusion
References
 
 
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 

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