Relevance to Autism

Two de novo variants (one nonsense, one missense) in the EPHB2 gene were identified in separate next-generation sequencing reports using ASD probands (Sanders et al., 2012; Kong et al., 2012).

Molecular Function

This gene encodes a member of the Eph receptor family of receptor tyrosine kinase transmembrane glycoproteins. These receptors are composed of an N-terminal glycosylated ligand-binding domain, a transmembrane region and an intracellular kinase domain. They bind ligands called ephrins and are involved in diverse cellular processes including motility, division, and differentiation. A distinguishing characteristic of Eph-ephrin signaling is that both receptors and ligands are competent to transduce a signaling cascade, resulting in bidirectional signaling. This protein belongs to a subgroup of the Eph receptors called EphB. Proteins of this subgroup are distinguished from other members of the family by sequence homology and preferential binding affinity for membrane-bound ephrin-B ligands.

External Links

References

Model Summary

Both eph mutants showed no change in habituation.

References