NTRK3 mutated L686M + G623R
Function
Receptor tyrosine kinase involved in nervous system and probably heart development. Upon binding of its ligand NTF3/neurotrophin-3, NTRK3 autophosphorylates and activates different signaling pathways, including the phosphatidylinositol 3-kinase/AKT and the MAPK pathways, that control cell survival and differentiation.
Involvement in disease
Defects in NTRK3 are associated with susceptibility to congenital heart defects (CHD). A disease characterized by congenital developmental abnormalities involving structures of the heart. CHD are the most common major birth defects and the leading cause of death from congenital malformations.
Post-translational modifications
Ligand-mediated auto-phosphorylation.
Sequence Similarities
Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily.
Tissue Specificity
Widely expressed but mainly in nervous tissue. Isoform 2 is expressed at higher levels in adult brain than in fetal brain.
Cellular localization
- Membrane
- Single-pass type I membrane protein
Alternative names
TRKC, NTRK3, NT-3 growth factor receptor, GP145-TrkC, Neurotrophic tyrosine kinase receptor type 3, TrkC tyrosine kinase, Trk-C
Database links
Other research areas
- Immuno-oncology
- Neuroscience