Entrez Gene ID | 3791 |
---|---|
Official Gene Symbol | KDR (GeneCards) |
Full name | kinase insert domain receptor |
Location | 4q12 |
Other ids | Vega : OTTHUMG00000128734 MIM : 191306 HGNC : HGNC:6307 Ensembl : ENSG00000128052 |
Other names | FLK1, CD309, VEGFR, VEGFR2 |
Summary | Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis and sprouting. The signalling and trafficking of this receptor are regulated by multiple factors, including Rab GTPase, P2Y purine nucleotide receptor, integrin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this gene are implicated in infantile capillary hemangiomas. [provided by RefSeq, May 2009] |
Found 4 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
861 | 3791 | KDR | 4 | 55955614 | 55955614 | Human Skin Fibroblasts | HiSeq 2500 |
6050 | 3791 | KDR | 4 | 56179768 | 56179768 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
6669 | 3791 | KDR | 4 | 56116673 | 56116673 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
29522 | 3791 | KDR | 4 | 55953925 | 55953925 | Autism Spectrum Disorders | HiSeq 2500 HiSeq X Ten MiSeq |