SPTBN2

Also known as GTRAP41, SCA5, SCAR14, spectrin beta, non-erythrocytic 2

Spectrin beta chain, brain 2 is a protein that in humans is encoded by the SPTBN2 gene.

In the Vinony graph

Within Vinony's link graph, SPTBN2 is referenced by 296 other articles, and connects out to hair keratin, PubMed and human chromosome 11.

It is catalogued under the topic Genes on human chromosome 11.

Its subject is documented across 6 Wikipedia language editions.

Gene data

SPTBN2

Name: spectrin beta, non-erythrocytic 2
Type: protein-coding
Position: 66,682,496–66,744,670 (−)
Aliases: GTRAP41, SCA5, SCAR14
Ensembl: ENSG00000173898
RefSeq RNA: NM_001411025.1, NM_001437541.1, NM_006946.4, XM_006718671.5, XM_011545216.4
RefSeq protein: NP_001397954.1, NP_001424470.1, NP_008877.2, XP_006718734.1, XP_011543518.1

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].