Symbol: Name: ID: |
SPTBN2 spectrin, beta, non-erythrocytic 2 GFS:1169 |
Gene name: | SPTBN2 |
Chromosome: | 11q13.2 |
Previous Symbols: | SCA5 |
Previous Names: | spinocerebellar ataxia 5 |
Aliases: | |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1313261 | Rat Genome Database ID: | RGD:3751 |
HGNC ID: | HGNC:11276 | RefSeq IDs: | NM_006946 |
Entrez Gene ID: | 6712 | Ensembl Gene ID: | ENSG00000173898 |
VEGA IDs: | UniProt ID: | O15020 | |
UCSC ID: | uc001ojd.2 | OMIM ID: | 604985 |
Pubmed: | PMID9826670 PMID 16429157 | ||
CCDS IDs: | CCDSCCDS8150.1 |
Spectrin beta chain, brain 2 is a protein that in humans is encoded by the SPTBN2 gene. 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: Probably plays an important role in neuronal membrane skeleton.
Products for SPTBN2 gene
Catalog | Product Name | Application | Company |
GFS:E01169 | spectrin, beta, non-erythrocytic 2; ELISA kit | ELISA | n/a |
GFS:A01169 | spectrin, beta, non-erythrocytic 2; Anti | ANTIBODIES | n/a |
GFS:P01169 | spectrin, beta, non-erythrocytic 2; Protien | Protien | n/a |