Aliases for SPTBN2 Gene
External Ids for SPTBN2 Gene
Previous HGNC Symbols for SPTBN2 Gene
Previous GeneCards Identifiers for SPTBN2 Gene
Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]
GeneCards Summary for SPTBN2 Gene
SPTBN2 (Spectrin Beta, Non-Erythrocytic 2) is a Protein Coding gene. Diseases associated with SPTBN2 include Spinocerebellar Ataxia 5 and Spinocerebellar Ataxia, Autosomal Recessive 14. Among its related pathways are RET signaling and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include actin binding and phospholipid binding. An important paralog of this gene is SPTBN1.
UniProtKB/Swiss-Prot for SPTBN2 Gene
Probably plays an important role in neuronal membrane skeleton.