EPHA8

Description

The EPHA8 (EPH receptor A8) is a protein-coding gene located on chromosome 1.

Ephrin type-A receptor 8 is a protein encoded by the EPHA8 gene in humans. It belongs to the ephrin receptor subfamily within the protein-tyrosine kinase family. EPH and EPH-related receptors are implicated in mediating developmental events, particularly in the nervous system. These receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and two fibronectin type III repeats. The ephrin receptors are categorized into two groups based on their extracellular domain similarities and affinities for binding ephrin-A and ephrin-B ligands. The protein encoded by EPHA8 acts as a receptor for ephrin A2, A3, and A5, playing a crucial role in short-range contact-mediated axonal guidance during the development of the mammalian nervous system.

EPHA8 is a receptor tyrosine kinase that interacts with GPI-anchored ephrin-A family ligands on neighboring cells, initiating a bidirectional signaling cascade. This interaction is contact-dependent and triggers 'forward' signaling downstream of the receptor and 'reverse' signaling downstream of the ephrin ligand. Specifically, EPHA8 can be activated by EFNA2, EFNA3, and EFNA5 through phosphorylation. Notably, the interaction with EFNA5 influences integrin-mediated cell adhesion and migration on fibronectin substrates, as well as neurite outgrowth. During development of the nervous system, EPHA8 plays a critical role in axon guidance. Downstream effectors of EPHA8 include FYN, which promotes cell adhesion when activated by EPHA8, and MAP kinases, which stimulate neurite outgrowth.

EPHA8 is also known as EEK, EK3, HEK3.

Associated Diseases

WES Whole Exome Sequencing