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Gene information for SPTBN2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID6712
Official gene symbolSPTBN2
Full namespectrin, beta, non-erythrocytic 2
Aliases,GTRAP41,SCA5,
Gene summarySpectrins 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]
LocationChromosome: 11   Locus: 11q13
Gene position66488870 - 66452720  Map Viewer
Gene orientationminus
Gene size36151 bp
Gene sequence
OMIM ID604985