EPHB4

Description

The EPHB4 (EPH receptor B4) is a protein-coding gene located on chromosome 7.

Ephrin type-B receptor 4 is a protein encoded by the EPHB4 gene in humans. Ephrin receptors and their ligands, the ephrins, are crucial for numerous developmental processes, particularly in the nervous system. Based on their structures and sequences, ephrins are classified into two groups: ephrin-A (EFNA), anchored to the membrane by a glycosylphosphatidylinositol linkage, and ephrin-B (EFNB), transmembrane proteins. The Eph family of receptors is also divided into two groups based on their extracellular domain sequences and affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors form the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by EPHB4 binds to ephrin-B2 and plays a critical role in vascular development.

EPHB4 is a receptor tyrosine kinase that binds to transmembrane ephrin-B family ligands on neighboring cells. This interaction initiates contact-dependent bidirectional signaling, known as forward signaling (downstream of the receptor) and reverse signaling (downstream of the ephrin ligand). It is involved in regulating cell adhesion and migration, and plays a central role in heart development, angiogenesis, blood vessel remodeling, and permeability. EPHB4-mediated forward signaling controls cell repulsion and segregation from cells expressing its cognate ligand, EFNB2.

EPHB4 is also known as CMAVM2, HFASD, HTK, LMPHM7, MYK1, TYRO11.

Associated Diseases

WES Whole Exome Sequencing