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FLASH GENE
Symbol SPTBN2 contributors: mct/npt - updated : 21-05-2019
HGNC name spectrin, beta, non-erythrocytic 2
HGNC id 11276
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one PH domain
  • two calponin homology domain
  • a central repeat region consisting of 17 spectrin repeats (pMID: 24603075)
  • ankyrin-binding domain
    • HOMOLOGY
    interspecies homolog to murine Spnb3
    Homologene
    FAMILY
  • spectrin family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • playing a role in neuronal membrane cytoskeleton
  • tetrameric actin-cross-linking proteins that form an elastic network, termed the membrane skeleton, on the cytoplasmic surface of cellular membranes (Davis 2009)
  • critical role for SPTBN2 in Purkinje cell morphological development
  • regulates the structural integrity and the secretory protein transport of the Golgi complex
  • is required for normal neuronal morphology and cell survival
  • critical role for SPTBN2 in maintaining ANK1 throughout the Purkinje cell dendritic tree
  • is critical for integrating membrane and cytoskeletal domains in excitable and nonexcitable cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • stabilizing the glutamate transpirter EAAT4 at the surface of the plasma membrane, and EAAT4 interactor (Perkins 2010)
    • cell & other
    REGULATION
    Other SPTBN2 and downstream molecules are regulated in multiple forms of cardiovascular disease via Ca(2+)- and calpain-dependent proteolysis
    ASSOCIATED DISORDERS
    corresponding disease(s) SCA5 , SCAR14
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    decreased in atrial samples of patients with atrial fibrillation compared with tissue from patients in sinus rhythm
    Susceptibility
  • to Attention-deficit/hyperactivity disorder (ADHD)
    • Variant & Polymorphism other DNA methylation of one CpG site in SPTBN2 is associated with attention deficits in children
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS