TEK
MIM.600221 9p21
The TEK receptor tyrosine kinase is expressed almost exclusively in endothelial cells.
This receptor possesses a unique extracellular domain containing 2 immunoglobulin-like loops separated by 3 epidermal growth factor-like repeats that are connected to 3 fibronectin type III-like repeats. The complex extracellular domain and the fact that the expression of this receptor tyrosine kinase is restricted to the endothelial cell lineage suggest that TEK plays a unique role within this cell lineage. The ligand for the receptor is angiopoietin-1 (ANG1) (MIM.601667).
Pathology
activating mutation in the TEK gene coding for receptor tyrosine kinase TIE2 in multiple cutaneous and mucosal venous malformations (VMCM) (MIM.600195)
Mouse models
disruption of the TEK gene by homologous recombination in ES cells results in embryonic lethality in homozygous mutant mouse embryos due to deficiency of the endothelium.