GeneID: 65
Names
| Common Name: | KDR | Type: | Gene |
|---|---|---|---|
| Chromosome: | 4 (NC_000004.12) | Locus: | NG_012004.1 (KDR) |
| HUGO Symbol: | KDR | Full Name: | kinase insert domain receptor |
| Exons: | 30 | Introns: | 29 |
Description:
KDR encodes a member of the vascular endothelial growth factor (VEGF) receptor (VEGFR) family. The encoded protein is a type III receptor tyrosine kinase that acts as a cell-surface receptor for VEGF, an important regulator of angiogenesis. VEGFRs consist of seven extracellular ligand-binding immunoglobulin (Ig)-like domains, a transmembrane segment, and a cytoplasmic domain with tyrosine kinase activity. KDR functions as a mediator of VEGF-stimulated mitogenic and chemotactic signalling in vascular endothelial cells. It is also involved in the regulation of endothelial nitric-oxide synthase expression. Mutations of this gene are implicated in infantile capillary hemangiomas. Polymorphisms in this gene associated with HbF levels in sickle cell patients.
Synonyms: FLK1 , CD309 , VEGFR , VEGFR2
Comments:
N/A
Number of entries/variants: 4
Publications / Origin
- McTigue MA, Wickersham JA, Pinko C, Showalter RE, Parast CV, Tempczyk-Russell A, Gehring MR, Mroczkowski B, Kan CC, Villafranca JE, Appelt K, Crystal structure of the kinase domain of human vascular endothelial growth factor receptor 2: a key enzyme in angiogenesis., Structure , 7(3), 319-30, 1999
- Tao Q, Backer MV, Backer JM, Terman BI, Kinase insert domain receptor (KDR) extracellular immunoglobulin-like domains 4-7 contain structural features that block receptor dimerization and vascular endothelial growth factor-induced signaling., J. Biol. Chem. , 276(24), 21916-23, 2001
- Sebastiani P, Wang L, Nolan VG, Melista E, Ma Q, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations., Am. J. Hematol. , 83(3), 189-95, 2008