Gene: KDR

Alternate names for this Gene: CD309|FLK1|VEGFR|VEGFR2

Gene 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4q12

Description of this Gene: kinase insert domain receptor

Type of Gene: protein-coding

rs2305948 in KDR gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs121917766 in KDR gene and HEMANGIOMA, CAPILLARY INFANTILE PMID 11807987 2002 Somatic mutation of vascular endothelial growth factor receptors in juvenile hemangioma.

PMID 17344846 2007 Patterns of somatic mutation in human cancer genomes.

PMID 18931684 2008 Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma.

rs7666097 in KDR gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs7666097 in KDR gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs7666097 in KDR gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs7666097 in KDR gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs7666097 in KDR gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs34231037 in KDR gene and Vascular Endothelial Growth Factor Receptor 2 Measurement PMID 28240269 2017 Connecting genetic risk to disease end points through the human blood plasma proteome.

rs1458831 in KDR gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.