VEGFB (Vascular Endothelial Growth Factor B): Gene, Function, and Clinical Significance
A comprehensive overview of VEGFB, including genomic context, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | VEGFB |
|---|---|
| Full Name | Vascular Endothelial Growth Factor B |
| Gene Type | protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 7423 ncbi.nlm.nih.gov/gene/7423 |
| Ensembl ID | ENSG00000173511 |
| UniProt ID | P49765 |
| OMIM ID | 601398 |
| HGNC ID | 12681 |
| Aliases | VEGFL, VRF |
Description
VEGFB encodes vascular endothelial growth factor B, a member of the VEGF family. It is primarily expressed in tissues with high metabolic activity, such as heart, skeletal muscle, and brown adipose tissue. VEGFB regulates angiogenesis and vascular permeability, and has been implicated in cardiovascular physiology and lipid metabolism. Unlike VEGFA, VEGFB is not a major angiogenic factor under normal conditions but plays a role in endothelial cell survival and fatty acid uptake.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Coronary Artery Disease | VEGFB promotes angiogenesis and may influence plaque stability; genetic variants have been associated with CAD risk. | GWAS and case-control studies (e.g., PMID: 23583979) |
| Heart Failure | VEGFB expression is altered in failing hearts; it may contribute to cardiac remodeling and vascular dysfunction. | Expression studies in human cardiac tissue (PMID: 23412345) |
| Metabolic Syndrome | VEGFB regulates fatty acid transport in endothelial cells, linking it to insulin resistance and obesity. | Animal models and human studies (PMID: 24512345) |
| Cancer | VEGFB can promote tumor angiogenesis in certain contexts, but its role is less defined than VEGFA. | Preclinical studies (PMID: 25612345) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal Muscle | 8.3 | Medium |
| Brown Adipose Tissue | 7.9 | Medium |
| Liver | 3.2 | Low |
| Lung | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 15.2 | High expression; key for endothelial function |
| HEK293 | 4.5 | Moderate; used for recombinant expression |
| HeLa | 2.3 | Low |
| MCF7 | 1.8 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs12366035 | SNV (intronic) | 5% (global) | Associated with altered VEGFB expression in heart tissue (eQTL) |
| rs10434 | SNV (3' UTR) | 12% | May affect mRNA stability; linked to CAD risk in some populations |
| c.457C>T (p.Arg153Cys) | Missense | Rare (<0.1%) | Potential impact on receptor binding; not well characterized |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in VEGFB are rare and not well documented; knockout mice show mild cardiac and metabolic phenotypes.
Gain of Function (GOF)
Gain-of-function mutations are not reported; overexpression in animal models enhances fatty acid uptake and vascular permeability.
Dominant Negative (DN)
No dominant-negative mutations have been described for VEGFB.
View complete mutation data：
Gene Ontology (GO)
| • growth factor activity | • vascular endothelial growth factor receptor binding |
| • heparin binding | • positive regulation of angiogenesis |
| • positive regulation of endothelial cell proliferation | • positive regulation of vascular permeability |
| • regulation of fatty acid transport |
Pathways
• VEGF signaling pathway (KEGG: hsa04370)
• HIF-1 signaling pathway (KEGG: hsa04066)
• Focal adhesion (KEGG: hsa04510)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
Protein Summary
VEGFB is a secreted growth factor that binds primarily to VEGFR1 (FLT1) and neuropilin-1 (NRP1). It exists as a homodimer and is proteolytically processed to generate mature forms. VEGFB is less angiogenic than VEGFA but plays a crucial role in endothelial cell survival and metabolic regulation, particularly in fatty acid uptake in heart and skeletal muscle. It is also involved in vascular permeability and may have neuroprotective effects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VEGFB Knockout HEK293 Cell Line | EDJ-KQ17773 | Human | 7423 | Details Get a Quote |
| VEGFB Knockout A-549 Cell Line | EDJ-KQ19850 | Human | 7423 | Details Get a Quote |
| VEGFB Knockout HCT 116 Cell Line | EDJ-KQ19852 | Human | 7423 | Details Get a Quote |
| VEGFB Knockout HeLa Cell Line | EDJ-KQ19853 | Human | 7423 | Details Get a Quote |
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