Skip to content
GenoLensGenoLens

KDR

Chr 4q12

kinase insert domain receptor

Aliases:
FLK1, VEGFR, VEGFR2, CD309
MANE:
ENST00000263923.5

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Pulmonary arterial hypertension

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Cerebral vascular malformations

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • PHACE(S) syndrome

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Vascular skin disorders

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • neoplasm

    0.68
  • hepatocellular carcinoma

    0.68
  • gastrointestinal stromal tumor

    0.66
  • renal cell carcinoma

    0.66
  • non-small cell lung carcinoma

    0.65
  • gastric adenocarcinoma

    0.64
  • cancer

    0.64
  • acute myeloid leukemia

    0.63
  • thyroid gland carcinoma

    0.63
  • colorectal cancer

    0.60

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Vascular endothelial growth factor receptor 2

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

Curated MONDO disease pages that list KDR among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.