Locus 186

GWAS results
Target annotations
Locus annotations
Network

Top associations per target

Target	cis/trans	Study	SNP	SNP location	Maj/min allele	MAF	N	β_inv	se_inv	P_inv	fc_log	P_log	P_raw
VEGF sR2	cis	Discovery	rs34231037	4:55,972,946	A/G	0.03	996	-1.165	0.121	4.6×10^-21	-1.210	5.1×10^-23	2.8×10^-19

Regional association plots

Vascular endothelial growth factor receptor 2 (VEGF sR2)

Download the association data used to generate this plot

Boxplots and histograms for top associations

Vascular endothelial growth factor receptor 2 (VEGF sR2)

	inverse-normalized probe levels	log₂ transformed probe levels	raw probe levels
Discovery study

Vascular endothelial growth factor receptor 2 (VEGF sR2)

Target (abbrv.)	VEGF sR2
Target (full name)	Vascular endothelial growth factor receptor 2
Somalogic ID (Sequence ID)	SL003201 (3651-50_5)
Entrez Gene Symbol	KDR
UniProt ID	P35968
UniProt Comment	Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFC and VEGFD. Plays an essential role in the regulation of angiogenesis, vascular development, vascular permeability, and embryonic hematopoiesis. Promotes proliferation, survival, migration and differentiation of endothelial cells. Promotes reorganization of the actin cytoskeleton. Isoforms lacking a transmembrane domain, such as isoform 2 and isoform 3, may function as decoy receptors for VEGFA, VEGFC and/or VEGFD. Isoform 2 plays an important role as negative regulator of VEGFA- and VEGFC-mediated lymphangiogenesis by limiting the amount of free VEGFA and/or VEGFC and preventing their binding to FLT4. Modulates FLT1 and FLT4 signaling by forming heterodimers. Binding of vascular growth factors to isoform 1 leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate and the activation of protein kinase C. Mediates activation of MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Mediates phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, reorganization of the actin cytoskeleton and activation of PTK2/FAK1. Required for VEGFA-mediated induction of NOS2 and NOS3, leading to the production of the signaling molecule nitric oxide (NO) by endothelial cells. Phosphorylates PLCG1. Promotes phosphorylation of FYN, NCK1, NOS3, PIK3R1, PTK2/FAK1 and SRC.
Targeted by drugs (based on IPA annotation)	AEE 788 sunitinib cediranib pazopanib axitinib XL647 CEP 7055 brivanib alaninate CHIR-265 tivozanib motesanib OSI-930 telatinib ramucirumab cabozantinib nintedanib regorafenib bortezomib/sorafenib lapatinib/pazopanib dexamethasone/lenalidomide/sorafenib bevacizumab/sorafenib cabozantinib/erlotinib docetaxel/ramucirumab vatalanib sorafenib vandetanib pegaptanib
Biomarker applications (based on IPA annotation)	disease progression efficacy prognosis response to therapy safety
Wiki Pathways	Angiogenesis Focal Adhesion angiogenesis overview
Pathway Interaction Database	Beta3 integrin cell surface interactions HIF-2-alpha transcription factor network Integrins in angiogenesis Notch-mediated HES/HEY network S1P1 pathway SHP2 signaling Signaling events mediated by TCPTP Signaling events mediated by VEGFR1 and VEGFR2 VEGF and VEGFR signaling network
Reactome	EPHA-mediated growth cone collapse Integrin cell surface interactions Neurophilin interactions with VEGF and VEGFR VEGF binds to VEGFR leading to receptor dimerization VEGFA-VEGFR2 Pathway VEGFR2 mediated cell proliferation
Pathway Studio	Transcytosis VEGFR → AP-1/CREB/MYC signaling VEGFR → ATF/CREB/ELK-SRF signaling VEGFR → CTNNB signaling VEGFR → CTNND signaling VEGFR → FOXO3A signaling VEGFR → NFATC signaling VEGFR → STAT signaling

All locus annotations are based on the sentinel SNP (rs34231037).
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by

KDR kinase insert domain receptor

Results from other genome-wide association studies

No associations available.