KDR (VEGFR2): A Key Regulator of Angiogenesis and Cancer
Comprehensive gene overview of KDR, its function, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | KDR |
|---|---|
| Full Name | kinase insert domain receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 4q12 |
| NCBI Gene ID | 3791 ncbi.nlm.nih.gov/gene/3791 |
| Ensembl ID | ENSG00000128052 |
| UniProt ID | P35968 |
| OMIM ID | 191306 |
| HGNC ID | 6307 |
| Aliases | VEGFR2, CD309, FLK1, VEGFR-2 |
Description
The KDR gene encodes the kinase insert domain receptor, also known as vascular endothelial growth factor receptor 2 (VEGFR2). This receptor tyrosine kinase is the primary mediator of VEGF-induced angiogenesis, regulating endothelial cell proliferation, migration, and survival. KDR is critical for embryonic vascular development and is implicated in various diseases, including cancer, where it promotes tumor angiogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | KDR overexpression or activation promotes tumor angiogenesis, supplying nutrients and oxygen to tumors. | COSMIC, ClinVar, literature |
| Hereditary Hemorrhagic Telangiectasia (HHT) | Mutations in KDR can cause HHT type 2, affecting vascular development. | OMIM, ClinVar |
| Coronary Artery Disease | KDR polymorphisms may influence vascular repair and risk of atherosclerosis. | ClinVar, literature |
| Diabetic Retinopathy | Increased KDR signaling contributes to pathological retinal neovascularization. | Literature, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 20.1 | Medium |
| Placenta | 15.3 | Medium |
| Kidney | 12.4 | Medium |
| Heart | 8.7 | Low |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | High | Endothelial cell line, high KDR expression |
| A549 (lung cancer) | Low | Low expression in this epithelial line |
| MCF7 (breast cancer) | Low | Low expression in this epithelial line |
| HepG2 (liver cancer) | Low | Low expression in this epithelial line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| V297I | Missense | Rare | May alter ligand binding; clinical significance uncertain |
| R1032Q | Missense | Rare | Located in kinase domain; potential effect on kinase activity |
| T771R | Missense | Rare | In transmembrane domain; may affect receptor dimerization |
| S1105F | Missense | Rare | In kinase domain; potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair kinase activity or receptor signaling, leading to reduced angiogenesis. Examples include certain missense mutations in the kinase domain.
Gain of Function (GOF)
Mutations that enhance receptor signaling, promoting excessive angiogenesis. These are less common but may occur in cancer.
Dominant Negative (DN)
Mutations that produce a receptor that interferes with wild-type KDR function, often by forming inactive heterodimers.
View complete mutation data：
Gene Ontology (GO)
| • vascular endothelial growth factor binding | • transmembrane receptor protein tyrosine kinase activity |
| • protein tyrosine kinase activity | • ATP binding |
| • signal transduction | • angiogenesis |
| • cell migration | • cell proliferation |
| • vascular endothelial growth factor signaling pathway |
Pathways
• VEGF signaling pathway
• Ras signaling pathway
• PI3K-Akt signaling pathway
• MAPK signaling pathway
• Focal adhesion
Protein Summary
KDR (VEGFR2) is a 1356-amino acid receptor tyrosine kinase with an extracellular domain containing seven immunoglobulin-like domains, a single transmembrane domain, and an intracellular split kinase domain. Upon binding VEGF-A, KDR dimerizes and autophosphorylates, activating downstream signaling cascades such as PLCγ-PKC-MAPK and PI3K-Akt, which promote endothelial cell survival, proliferation, and migration. KDR is primarily expressed on vascular endothelial cells and is essential for both physiological and pathological angiogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PKDREJ Knockout HEK293 Cell Line | EDJ-KQ7013 | Human | 10343 | Details Get a Quote |
| KDR Knockout HEK293 Cell Line | EDJ-KQ17675 | Human | 3791 | Details Get a Quote |
| KDR Knockout HeLa Cell Line | EDJ-KQ53731 | Human | 3791 | Details Get a Quote |
| PKDREJ Knockout HeLa Cell Line | EDJ-KQ55385 | Human | 10343 | Details Get a Quote |
| KDR Knockout A-549 Cell Line | EDJ-KQ62207 | Human | 3791 | Details Get a Quote |
| PKDREJ Knockout A-549 Cell Line | EDJ-KQ63866 | Human | 10343 | Details Get a Quote |
| KDR Knockout HCT 116 Cell Line | EDJ-KQ70694 | Human | 3791 | Details Get a Quote |
| PKDREJ Knockout HCT 116 Cell Line | EDJ-KQ72323 | Human | 10343 | Details Get a Quote |
| KDR (p.Q472H) Point Mutation in HAP1 Cell Line | EDC03523 | Human | 3791 | Details Get a Quote |
| KDR (p.V297I) Point Mutation in HAP1 Cell Line | EDC03524 | Human | 3791 | Details Get a Quote |
| KDR (c.3405-92A>G )Point Mutation in HAP1 Cell Line | EDC03520 | Human | 3791 | Details Get a Quote |
| KDR (c.2615-37dup )Point Mutation in HAP1 Cell Line | EDC03521 | Human | 3791 | Details Get a Quote |
| KDR (c.2615-36A>C )Point Mutation in HAP1 Cell Line | EDC03522 | Human | 3791 | Details Get a Quote |
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