Gene Symbol: Sptbn2
Description: spectrin beta, non-erythrocytic 2
Alias: Spnb3, mKIAA0302, spectrin beta chain, non-erythrocytic 2, beta-spectrin 3, spectrin beta 3
Species: mouse
Products:     Sptbn2

Top Publications

  1. Stankewich M, Tse W, Peters L, Ch ng Y, John K, Stabach P, et al. A widely expressed betaIII spectrin associated with Golgi and cytoplasmic vesicles. Proc Natl Acad Sci U S A. 1998;95:14158-63 pubmed
    ..All of the tested tissues contain major 9.0-kb and minor 11.3-kb transcripts. The human betaIII spectrin gene (SPTBN2) maps to chromosome 11q13 and the mouse gene (Spnb3) maps to a syntenic region close to the centromere on ..
  2. Clarkson Y, Gillespie T, Perkins E, Lyndon A, Jackson M. Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi. Hum Mol Genet. 2010;19:3634-41 pubmed publisher
  3. Stankewich M, Gwynn B, Ardito T, Ji L, Kim J, Robledo R, et al. Targeted deletion of betaIII spectrin impairs synaptogenesis and generates ataxic and seizure phenotypes. Proc Natl Acad Sci U S A. 2010;107:6022-7 pubmed publisher
    ..We have explored the mechanistic basis of this phenotype by targeted gene disruption of Spnb3. Mice lacking intact betaIII spectrin develop normally. By 6 months they display a mild nonprogressive ataxia...
  4. Perkins E, Clarkson Y, Sabatier N, Longhurst D, Millward C, Jack J, et al. Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans. J Neurosci. 2010;30:4857-67 pubmed publisher
    Mutations in SPTBN2, the gene encoding beta-III spectrin, cause spinocerebellar ataxia type 5 in humans (SCA5), a neurodegenerative disorder resulting in loss of motor coordination...
  5. Stankewich M, Cianci C, Stabach P, Ji L, Nath A, Morrow J. Cell organization, growth, and neural and cardiac development require ?II-spectrin. J Cell Sci. 2011;124:3956-66 pubmed publisher
    ..These data indicate that the spectrin-ankyrin scaffold is crucial in vertebrates for cell spreading, tissue patterning and organ development, particularly in the developing brain and heart, but is not required for cell viability. ..
  6. Lise S, Clarkson Y, Perkins E, Kwasniewska A, Sadighi Akha E, Schnekenberg R, et al. Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development. PLoS Genet. 2012;8:e1003074 pubmed publisher
    ..Heterozygous mutations in SPTBN2, the gene encoding β-III spectrin, cause Spinocerebellar Ataxia Type 5 (SCA5), an adult-onset, slowly ..
  7. Gao Y, Perkins E, Clarkson Y, Tobia S, Lyndon A, Jackson M, et al. ?-III spectrin is critical for development of purkinje cell dendritic tree and spine morphogenesis. J Neurosci. 2011;31:16581-90 pubmed publisher
  8. Kao L, Kurtz L, Shao X, Papadopoulos M, Liu L, Bok D, et al. Severe neurologic impairment in mice with targeted disruption of the electrogenic sodium bicarbonate cotransporter NBCe2 (Slc4a5 gene). J Biol Chem. 2011;286:32563-74 pubmed publisher
    ..Our findings are the first demonstration of the fundamental importance of NBCe2 in the biology of the nervous system. ..
  9. Perkins E, Suminaite D, Clarkson Y, Lee S, Lyndon A, Rothstein J, et al. Posterior cerebellar Purkinje cells in an SCA5/SPARCA1 mouse model are especially vulnerable to the synergistic effect of loss of β-III spectrin and GLAST. Hum Mol Genet. 2016;25:4448-4461 pubmed publisher

More Information


  1. Legendre K, Safieddine S, Küssel Andermann P, Petit C, El Amraoui A. alphaII-betaV spectrin bridges the plasma membrane and cortical lattice in the lateral wall of the auditory outer hair cells. J Cell Sci. 2008;121:3347-56 pubmed publisher
    ..We conclude that the cortical network involved in the sound-induced electromotility of OHCs contains alphaII-betaV spectrin, and not the conventional alphaII-betaII spectrin. ..
  2. May Simera H, Petralia R, Montcouquiol M, Wang Y, Szarama K, Liu Y, et al. Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea. Development. 2015;142:555-66 pubmed publisher
    ..This could implicate these molecules in selective trafficking of membrane proteins upstream of cytoskeletal reorganization, and identifies new roles for cilia-related proteins in cochlear PCP. ..
  3. Le Bras B, Fréal A, Czarnecki A, Legendre P, Bullier E, Komada M, et al. In vivo assembly of the axon initial segment in motor neurons. Brain Struct Funct. 2014;219:1433-50 pubmed publisher
    ..5 these nascent AISs are already able to generate spikes. Using knock-out mice, we demonstrated that neither ?4-spectrin nor Neurofascin control the distal-to-proximal restriction of AnkG. ..
  4. Clarkson Y, Perkins E, Cairncross C, Lyndon A, Skehel P, Jackson M. ?-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations. Hum Mol Genet. 2014;23:3875-82 pubmed publisher
  5. Chen J, Yao Z, Chen J, Gi Y, Muñoz N, Kundra S, et al. TGF-β/β2-spectrin/CTCF-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome. J Clin Invest. 2016;126:527-42 pubmed publisher
  6. Lim J, Baek H, Jang M, Choi E, Lee Y, Lee S, et al. Loss of ?2-spectrin prevents cardiomyocyte differentiation and heart development. Cardiovasc Res. 2014;101:39-47 pubmed publisher
    ..Our data demonstrate that ?2-spectrin is required for proper development of the heart and that disruption of ?2-spectrin is a potential underlying cause of congenital heart defects. ..
  7. Buczacki S, Zecchini H, Nicholson A, Russell R, Vermeulen L, Kemp R, et al. Intestinal label-retaining cells are secretory precursors expressing Lgr5. Nature. 2013;495:65-9 pubmed publisher
    ..These findings establish quiescent cells as an effective clonogenic reserve and provide a motivation for investigating their role in pathologies such as colorectal cancers and intestinal inflammation...
  8. Duncan J, Stoller M, Francl A, Tissir F, Devenport D, Deans M. Celsr1 coordinates the planar polarity of vestibular hair cells during inner ear development. Dev Biol. 2017;423:126-137 pubmed publisher
    ..Since horizontal semi-circular canal defects lead to circling in other mutant mouse lines, we propose that this PCP phenotype is the cellular basis of the circling behavior in Celsr1 mutants. ..
  9. Papal S, Cortese M, Legendre K, Sorusch N, Dragavon J, Sahly I, et al. The giant spectrin ?V couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route. Hum Mol Genet. 2013;22:3773-88 pubmed publisher
  10. Wishart T, Rooney T, Lamont D, Wright A, Morton A, Jackson M, et al. Combining comparative proteomics and molecular genetics uncovers regulators of synaptic and axonal stability and degeneration in vivo. PLoS Genet. 2012;8:e1002936 pubmed publisher
    ..We propose that the proteins and functional pathways identified in the current study represent attractive targets for developing therapeutics aimed at modulating synaptic and axonal stability and neurodegeneration in vivo. ..