EPHB6

Description

The EPHB6 (EPH receptor B6) is a protein-coding gene located on chromosome 7.

Ephrin type-B receptor 6 is a protein that in humans is encoded by the EPHB6 gene. Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The ephrin receptor encoded by this gene lacks the kinase activity of most receptor tyrosine kinases and binds to ephrin-B ligands.

EPHB6 is a kinase-deficient receptor that interacts with ephrin-B1 and ephrin-B2. It influences cell adhesion and migration, exhibiting both stimulatory and inhibitory effects in response to ephrin-B2. Upon ephrin-B2 stimulation, it suppresses JNK activation, T-cell receptor-induced IL-2 secretion, and CD25 expression.

EPHB6 is also known as HEP.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing