VEGFA: Vascular Endothelial Growth Factor A
Key regulator of angiogenesis and vascular permeability
Gene Information Card
| Symbol | VEGFA |
|---|---|
| Full Name | Vascular Endothelial Growth Factor A |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 7422 ncbi.nlm.nih.gov/gene/7422 |
| Ensembl ID | ENSG00000112715 |
| UniProt ID | P15692 |
| OMIM ID | 192240 |
| HGNC ID | 12680 |
| Aliases | VEGF, VPF, MVCD1 |
Description
VEGFA (Vascular Endothelial Growth Factor A) is a protein-coding gene that 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 is implicated in various diseases, including cancer, diabetic retinopathy, and age-related macular degeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Age-related Macular Degeneration (AMD) | Increased VEGFA expression promotes choroidal neovascularization, leading to vision loss. | ClinVar, OMIM |
| Diabetic Retinopathy | Hypoxia-induced VEGFA overexpression causes retinal neovascularization and edema. | ClinVar, OMIM |
| Various Cancers (e.g., breast, lung, colorectal) | Tumor hypoxia upregulates VEGFA, stimulating angiogenesis and tumor growth. | COSMIC, NCBI Gene |
| Hereditary Hemorrhagic Telangiectasia (HHT) | Rare VEGFA mutations may contribute to vascular malformations. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Placenta | 45.2 | High |
| Kidney | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.8 | Cervical cancer cell line |
| A549 | 22.1 | Lung carcinoma cell line |
| MCF7 | 9.4 | Breast cancer cell line |
| HUVEC | 35.6 | Human umbilical vein endothelial cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.205A>G (p.Ile69Val) | Missense | Rare | Unknown functional impact |
| c.374C>T (p.Pro125Leu) | Missense | Rare | Potential altered VEGF activity |
| c.458T>C (p.Leu153Pro) | Missense | Rare | Associated with HHT-like phenotype |
Mutation functional classification
Loss of Function (LOF)
Rare; complete loss is embryonic lethal in animal models.
Gain of Function (GOF)
Common in cancer; overexpression due to hypoxia or amplification promotes angiogenesis.
Dominant Negative (DN)
Not well documented for VEGFA.
View complete mutation data：
Gene Ontology (GO)
| • GO:0008083 - growth factor activity | • GO:0005178 - integrin binding |
| • GO:0005515 - protein binding | • GO:0001934 - positive regulation of protein phosphorylation |
| • GO:0043536 - positive regulation of blood vessel endothelial cell migration | • GO:0001525 - angiogenesis |
Pathways
• VEGF signaling pathway (KEGG: hsa04370)
• HIF-1 signaling pathway (KEGG: hsa04066)
• Focal adhesion (KEGG: hsa04510)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
Protein Summary
VEGFA is a secreted homodimeric glycoprotein that binds to VEGFR1 and VEGFR2 receptors on endothelial cells, activating downstream signaling cascades (e.g., MAPK, PI3K/Akt) that promote cell survival, proliferation, migration, and vascular permeability. It is a primary target for anti-angiogenic therapies in cancer and ocular diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VEGFA Knockout HEK293 Cell Line | EDJ-KQ17674 | Human | 7422 | Details Get a Quote |
| VEGFA Knockout A-549 Cell Line | EDJ-KQ19446 | Human | 7422 | Details Get a Quote |
| VEGFA Knockout HCT 116 Cell Line | EDC09998 | Human | 7422 | Details Get a Quote |
| VEGFA Knockout HeLa Cell Line | EDJ-KQ19448 | Human | 7422 | Details Get a Quote |
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