Sptbn2 - spectrin beta, non-erythrocytic 2

A structural constituent of synapse. Involved in postsynapse organization. Acts upstream of or within adult behavior; cerebellar Purkinje cell layer morphogenesis; and synapse assembly. Located in apical plasma membrane; neuronal cell body; and paranodal junction. Is active in several cellular components, including glutamatergic synapse; parallel fiber to Purkinje cell synapse; and postsynaptic spectrin-associated cytoskeleton. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and skin. Used to study spinocerebellar ataxia type 5. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 14 and spinocerebellar ataxia type 5. Orthologous to human SPTBN2 (spectrin beta, non-erythrocytic 2). [provided by Alliance of Genome Resources, Apr 2022]