spectrin beta chain, brain 2; spectrin, non-erythroid beta chain 2; beta-III spectrin (SPTBN2, KIAA0302)

Function

• probably plays an important role in neuronal membrane cytoskeleton

Structure

• belongs to the spectrin family
• contains 2 CH (calponin-homology) domains
• contains 1 PH domain
• contains 17 spectrin repeats

Compartment

• cytoplasm, cytoskeleton, cytoplasm, cell cortex

Alternative splicing

named isoforms=2

Expression

• highly expressed in brain, kidney, pancreas, & liver, & at lower levels in lung & placenta

Pathology

• defects in SPTBN2 are the cause of spinocerebellar ataxia type 5

More general terms

• beta-spectrin

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6712
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6712
• OMIM: https://mirror.omim.org/entry/600224
• OMIM: https://mirror.omim.org/entry/604985
• UniProt: http://www.uniprot.org/uniprot/O15020.html