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. [provided by RefSeq, Dec 2009]

Description

Spectrin beta, non-erythrocytic 2

Tissue specificity

Tissue enhanced (brain, skin)

Subcell location

Vesicles, Plasma membrane, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

11 (66682497 - 66729226)

Ensembl ID

ENSG00000173898  (ver. 103.38)

Orthologs

Mouse Sptbn2: ENSMUSG00000067889

UniProt

O15020

neXtProt

NX_O15020

Human splice variants
Mouse splice variants

Protein structure