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Connecting genetic risk to disease endpoints through the human blood plasma proteome

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Locus annotations

Locus 186

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
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


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Genes hit or close-by
  • KDR kinase insert domain receptor

 

Results from other genome-wide association studies


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No associations available.