Gene: SPTBN2

Alternate names for this Gene: GTRAP41|SCA5|SCAR14

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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.2

Description of this Gene: spectrin beta, non-erythrocytic 2

Type of Gene: protein-coding

rs769987150 in SPTBN2 gene and Muscle hypotonia PMID 22090485 2011 β-III spectrin is critical for development of purkinje cell dendritic tree and spine morphogenesis.

PMID 20603325 2010 Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi.

PMID 16429157 2006 Spectrin mutations cause spinocerebellar ataxia type 5.

PMID 20371805 2010 Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.

PMID 23838597 2014 Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.

PMID 22914369 2013 Case of infantile onset spinocerebellar ataxia type 5.

PMID 28636205 2017 Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.

PMID 23236289 2012 Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.

rs121918306 in SPTBN2 gene and Spinocerebellar Ataxia Type 5 PMID 16429157 2006 Spectrin mutations cause spinocerebellar ataxia type 5.

PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

PMID 22914369 2013 Case of infantile onset spinocerebellar ataxia type 5.