KDR Chromosome 4
Kinase insert domain receptor
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What This Gene Does
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]
Gene Info
Gene Group
"Receptor tyrosine kinases|CD molecules|V-set domain containing|I-set domain containing"
Locus Type
gene with protein product
Location
4q12
Ensembl
ENSG00000128052
Associated Conditions (3)
Tetralogy of Fallot
Premature ovarian failure
Capillary infantile hemangioma
Key Variants
RS140825421
Conflicting classifications of pathogenicity
Health Risk
RS149740758
Conflicting classifications of pathogenicity
Health Risk
RS201708587
Conflicting classifications of pathogenicity
Health Risk
RS2545277848
Likely pathogenic
Tetralogy of Fallot, Tetralogy of Fallot
Health Risk
RS587778428
Likely pathogenic
Premature ovarian failure, Premature ovarian failure
Health Risk
RS121917766
Pathogenic
Capillary infantile hemangioma, Capillary infantile hemangioma
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140825421 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149740758 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201708587 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2545277848 | Health Risk | Likely pathogenic | Tetralogy of Fallot, Tetralogy of Fallot |
| RS587778428 | Health Risk | Likely pathogenic | Premature ovarian failure, Premature ovarian failure |
| RS121917766 | Health Risk | Pathogenic | Capillary infantile hemangioma, Capillary infantile hemangioma |