EPHB4
Developmental stage
Expressed in fetal heart, lung, liver and to a lower extent in brain. Not expressed in adult brain.
Function
Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Together with its cognate ligand/functional ligand EFNB2 it is involved in the regulation of cell adhesion and migration, and plays a central role in heart morphogenesis, angiogenesis and blood vessel remodeling and permeability. EPHB4-mediated forward signaling controls cellular repulsion and segregation from EFNB2-expressing cells.
Involvement in disease
Lymphatic malformation 7
LMPHM7
A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM7 is an autosomal dominant form with variable expressivity. Some individuals present with severe non-immune hydrops fetalis, which may cause perinatal demise or fully resolve after the neonatal period. Others present with no edema and have milder clinical features, such as atrial septal defect or varicose veins as adults.
None
The disease is caused by variants affecting the gene represented in this entry.
Capillary malformation-arteriovenous malformation 2
CMAVM2
An autosomal dominant disorder characterized by multiple, round to oval or more irregularly shaped macules that are pinkish red in color and are randomly distributed across the body. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated; autophosphorylation is stimulated by EFNB2.
Sequence Similarities
Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily.
Tissue Specificity
Abundantly expressed in placenta but also detected in kidney, liver, lung, pancreas, skeletal muscle and heart. Expressed in primitive and myeloid, but not lymphoid, hematopoietic cells. Also observed in cell lines derived from liver, breast, colon, lung, melanocyte and cervix.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
Alternative names
HTK, MYK1, TYRO11, EPHB4, Ephrin type-B receptor 4, Hepatoma transmembrane kinase, Tyrosine-protein kinase TYRO11