SPTBN2

Spectrin beta chain, brain 2 is a protein that in humans is encoded by the SPTBN2 gene.^[5][6][7]

SPTBN2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1WJM, 1WYQ
Identifiers
Aliases	SPTBN2, GTRAP41, SCA5, SCAR14, spectrin beta, non-erythrocytic 2
External IDs	OMIM: 604985; MGI: 1313261; HomoloGene: 48482; GeneCards: SPTBN2; OMA:SPTBN2 - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q13.2 Start 66,682,497 bp[1] End 66,744,670 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19 A|19 4.1 cM Start 4,761,195 bp[2] End 4,802,388 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum right frontal lobe skin of leg skin of abdomen ganglionic eminence prefrontal cortex right testis left testis cingulate gyrus anterior cingulate cortex Top expressed in perirhinal cortex CA3 field entorhinal cortex superior frontal gyrus primary visual cortex dentate gyrus of hippocampal formation granule cell Region I of hippocampus proper primary motor cortex cerebellar cortex prefrontal cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function actin binding phospholipid binding structural constituent of cytoskeleton cadherin binding structural constituent of synapse Cellular component cell junction soma cell cortex apical plasma membrane cytoskeleton spectrin extracellular space cytoplasm cytosol parallel fiber to Purkinje cell synapse presynapse glutamatergic synapse postsynaptic spectrin-associated cytoskeleton Biological process antigen processing and presentation of exogenous peptide antigen via MHC class II multicellular organism growth MAPK cascade axon guidance cerebellar Purkinje cell layer morphogenesis endoplasmic reticulum to Golgi vesicle-mediated transport adult behavior actin filament capping synapse assembly vesicle-mediated transport cytoskeleton organization regulation of molecular function postsynapse organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6712 20743 Ensembl ENSG00000173898 ENSMUSG00000067889 UniProt O15020 Q68FG2 RefSeq (mRNA) NM_006946 NM_021287 RefSeq (protein) NP_008877 NP_067262 Location (UCSC) Chr 11: 66.68 – 66.74 Mb Chr 19: 4.76 – 4.8 Mb PubMed search [3] [4]
Wikidata
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Clinical significance

Mutations in this gene is associated with Spinocerebellar ataxia type 5.

Interactions

SPTBN2 has been shown to interact with:

• ACTR1A,^[8][9]
• Beta-actin,^[8][9] and
• UNC13B.^[10]