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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
Corresponding disease
SCA5 spinocerebellar ataxia 5
SCAR14 spinocerebellar ataxia, autosomal recessive 14
Location 11q13.2      Physical location : 66.452.720 - 66.488.870
Synonym name
  • beta 3 spectrin
  • spectrin beta G chain
  • glutamate transporter EAAT4-associated protein 41
  • spinocerebellar ataxia 5 protein
  • Synonym symbol(s) SPTBG, KIAA0302, SPCP, GTRAP41
    DNA
    TYPE functioning gene
    STRUCTURE 36.15 kb     37 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    37 - 7884 - 2390 - Davis (2009)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Endocrinepancreas   highly
    Nervousbrainhindbraincerebellum highly Homo sapiens
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    NervousPurkinje cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS