fms related receptor tyrosine kinase 4
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal hydrops
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPrimary lymphoedema
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedVascular skin disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedRare genetic inflammatory skin disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCerebral vascular malformations
Familial non syndromic congenital heart disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown+2 more panels — install the extension to see the full list inline on any page.
lymphatic malformation 1
congenital heart defects, multiple types, 7
Milroy disease
hepatocellular carcinoma
gastrointestinal stromal tumor
non-small cell lung carcinoma
capillary infantile hemangioma
neoplasm
renal cell carcinoma
thyroid gland carcinoma
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Vascular endothelial growth factor receptor 3
Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFC and VEGFD, and plays an essential role in adult lymphangiogenesis and in the development of the vascular network and the cardiovascular system during embryonic development. Promotes proliferation, survival and migration of endothelial cells, and regulates angiogenic sprouting. Signaling by activated FLT4 leads to enhanced production of VEGFC, and to a lesser degree VEGFA, thereby creating a positive feedback loop that enhances FLT4 signaling. Modulates KDR signaling by forming heterodimers. The secreted isoform 3 may function as a decoy receptor for VEGFC and/or VEGFD and play an important role as a negative regulator of VEGFC-mediated lymphangiogenesis and angiogenesis. Binding of vascular growth factors to isoform 1 or isoform 2 leads to the activation of several signaling cascades; isoform 2 seems to be less efficient in signal transduction, because it has a truncated C-terminus and therefore lacks several phosphorylation sites. Mediates activation of the MAPK1/ERK2, MAPK3/ERK1 signaling pathway, of MAPK8 and the JUN signaling pathway, and of the AKT1 signaling pathway. Phosphorylates SHC1. Mediates phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Promotes phosphorylation of MAPK8 at 'Thr-183' and 'Tyr-185', and of AKT1 at 'Ser-473'
Curated MONDO disease pages that list FLT4 among their top associated genes.
FLT4 · P35916
Mean pLDDT
72.4/ 100
Confident
1,363 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
