PLXNA2

[5][6] This gene encodes a member of the plexin-A family of semaphorin co-receptors.

Semaphorins are a large family of secreted or membrane-bound proteins that mediate repulsive effects on axon pathfinding during nervous system development.

A subset of semaphorins are recognized by plexin-A/neuropilin transmembrane receptor complexes, triggering a cellular signal transduction cascade that leads to axon repulsion.

This plexin-A family member is thought to transduce signals from semaphorin-3A and -3C.

PLXNA2 is a candidate gene for intellectual disability and possibly facial dysmorphism and congenital heart disease[8][9]