| Entrez gene ID | | 6712 |
| Official gene symbol | | SPTBN2 |
| Full name | | spectrin, beta, non-erythrocytic 2 |
| Aliases | | ,GTRAP41,SCA5, |
| Gene summary | | 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] |
| Location | | Chromosome: 11 Locus: 11q13 |
| Gene position | | 66488870 - 66452720 Map Viewer |
| Gene orientation | | minus |
| Gene size | | 36151 bp |
| Gene sequence |
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| OMIM ID | | 604985 |
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