VEGFD Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the VEGFD gene, its protein product, expression patterns, associated diseases, and mutations.
Gene Information Card
| Symbol | VEGFD |
|---|---|
| Full Name | Vascular endothelial growth factor D |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.2 |
| NCBI Gene ID | 2277 ncbi.nlm.nih.gov/gene/2277 |
| Ensembl ID | ENSG00000165197 |
| UniProt ID | O43915 |
| OMIM ID | 300027 |
| HGNC ID | 12682 |
| Aliases | FIGF; VEGF-D; c-Fos-induced growth factor |
Description
The VEGFD gene encodes vascular endothelial growth factor D, a member of the VEGF family of growth factors. It is a secreted protein that primarily regulates lymphangiogenesis and angiogenesis by binding to VEGF receptors VEGFR-2 and VEGFR-3. VEGFD is involved in the development of lymphatic vessels and has been implicated in tumor metastasis and lymphedema.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lymphedema | Mutations in VEGFD may disrupt lymphangiogenesis, leading to lymphatic dysfunction. | ClinVar, OMIM |
| Cancer (various types) | Overexpression of VEGFD promotes tumor lymphangiogenesis and lymphatic metastasis. | COSMIC, PubMed |
| Coronary artery disease | VEGFD may influence vascular remodeling and collateral vessel formation. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.4 | Medium |
| Heart | 8.1 | Low |
| Skeletal Muscle | 6.3 | Low |
| Kidney | 5.2 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 15.2 | High expression |
| HeLa (cervical cancer) | 3.4 | Low expression |
| A549 (lung cancer) | 7.8 | Moderate expression |
| MCF7 (breast cancer) | 2.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.475C>T (p.Arg159Ter) | Nonsense | Rare | Loss of function, may cause lymphedema |
| c.1042G>A (p.Asp348Asn) | Missense | Rare | Potential altered receptor binding |
| c.1123A>G (p.Thr375Ala) | Missense | Rare | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in VEGFD are rare and may impair lymphangiogenesis, contributing to lymphedema.
Gain of Function (GOF)
Gain-of-function mutations are not well documented; overexpression is more common in cancer.
Dominant Negative (DN)
No dominant-negative mutations have been reported for VEGFD.
View complete mutation data：
Gene Ontology (GO)
| • growth factor activity | • vascular endothelial growth factor receptor binding |
| • extracellular space | • positive regulation of endothelial cell proliferation |
| • lymphangiogenesis | • angiogenesis |
Pathways
• VEGF signaling pathway
• Ras signaling pathway
• PI3K-Akt signaling pathway
• Focal adhesion
Protein Summary
VEGFD is a secreted glycoprotein that undergoes proteolytic processing to form mature homodimers. It binds to VEGFR-2 and VEGFR-3, activating downstream signaling cascades that promote endothelial cell survival, proliferation, and migration. It plays a critical role in lymphatic vessel development and is implicated in tumor metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VEGFD Knockout HEK293 Cell Line | EDJ-KQ763 | Human | 2277 | Details Get a Quote |
| VEGFD Knockout A-549 Cell Line | EDJ-KQ19451 | Human | 2277 | Details Get a Quote |
| VEGFD Knockout HeLa Cell Line | EDJ-KQ53236 | Human | 2277 | Details Get a Quote |
| VEGFD Knockout HCT 116 Cell Line | EDJ-KQ70201 | Human | 2277 | Details Get a Quote |
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