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 Metabolism of proteins and RET signaling. Gene Ontology (GO) annotations related to this gene include actin binding and phospholipid binding. An important paralog of this gene is SPTBN1.
UniProtKB/Swiss-Prot Summary for SPTBN2 Gene
Probably plays an important role in neuronal membrane skeleton.