SPTBN2, Official Symbol SPTBN2provided by HGNC Official Full Name spectrin beta, non-erythrocytic 2provided by HGNC Primary source HGNC:HGNC:11276 See related Ensembl:ENSG00000173898 MIM:604985; AllianceGenome:HGNC:11276 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SCA5; SCAR14; GTRAP41 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, Dec 2009] Expression Biased expression in skin (RPKM 16.1), testis (RPKM 12.4) and 8 other tissues See more Orthologs mouse all