Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SPTBN4 contributors: mct - updated : 18-04-2015
HGNC name spectrin, beta, non-erythrocytic 4
HGNC id 14896
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal actin-binding domain,
  • two CH (calponin-homology) domains
  • 17 spectrin repeats
  • a PH (pleckstrin homology) domain
  • C-terminal domain crucial for KCNQ2 aggregation and excitability at nodes of Ranvier , containing a conserved motif harboring high homology to the autoregulatory domain of CAMK2A, a site necessary for CAMK2A intramolecular interaction
    • HOMOLOGY
    interspecies homolog to rattus Spnb4 (94.9 pc)
    homolog to murine Spnb4 (95.8 pc)
    Homologene
    FAMILY
  • spectrin family
  • beta subfamily
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,adherens
        intracellular
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus,nucleoplasm,nuclear bodies,PML
    text
  • PML body
  • nuclear matrix
  • cytoskeletal anchoring at plasma membrane
    • basic FUNCTION
  • being a structural constituent of cytoskeleton
  • involved in the barbed-end actin filament capping
  • regulates sodium channel clustering through ankyrin-G at axon initial segments and nodes of Ranvier
  • broader role for SPTB4 in regulation of cell membrane excitability in the pancreatic islet
  • role of SPTBN4 in the expression, targeting, and regulation of critical membrane and signaling proteins in islets
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text
  • vesicle-mediated transport
    • PATHWAY
    metabolism
    signaling
    a component essential component of the membrane skeleton
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to actin
  • binding to ankyrin
  • is recruited to axon initial segments and nodes of Ranvier by ANK3
  • directly associates with ankyrin-B and CAMK2A
  • directly associates with and targets CAMK2A in pancreatic islets
  • SPTBN4–targeted CAMK2A directly phosphorylates the inwardly-rectifying potassium channel, KCNJ11
  • SPTBN4/CAMK2D interaction in pancreatic islets via a C-terminal domain in SPTBN4
  • is required for CAMK2D, ANK2, KCNJ11, and ABCC8 expression in beta cells
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IDMAN
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    DNA methylation-associated silencing in Alzheimer disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS