Astrotactin-2 (ASTN2)

Astrotactin-2 (ASTN2) is a neuronal transmembrane protein expressed predominantly in the brain. It regulates neuronal migration and modulates synaptic strength by controlling the trafficking, internalization, and degradation of a repertoire of surface proteins, including synaptic adhesion molecules such as Neuroligins, as well as ion transporters and proteins involved in cytoskeletal organization. ASTN2 resides in endocytic, endosomal, and autophagic vesicles within neurons and interacts with protein sorting machinery such as the AP-2 adaptor and VPS36. Genetic disruptions, especially copy number variants impacting the FNIII domain, are implicated in neurodevelopmental disorders such as autism spectrum disorder, speech and language delays, and sometimes schizophrenia. The gene has alternative splice variants and is distantly related to astrotactin-1, which also plays a role in neuronal migration. Although its dysfunction is clearly linked to disease, astrotactin-2 itself is not an established therapeutic target and there are currently no known drugs or approved clinical interventions directly modulating its activity[1][2][3][4].

Other names

KIAA0634bA67K19.1astrotactin-2