spectrin, beta, non-erythrocytic 2

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of SPTBN2

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.

Community Annotation of SPTBN2 Add / Edit SPTBN2: Annotations

No community annotations yet for SPTBN2.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


SPTBN2 is highly significantly mutated in
SPTBN2 is significantly mutated in
SPTBN2 is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for SPTBN2