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FLASH GENE
Symbol SPTBN4 contributors: mct - updated : 18-04-2015
HGNC name spectrin, beta, non-erythrocytic 4
HGNC id 14896
Corresponding disease
IDMAN Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy
Location 19q13.2      Physical location : 40.973.125 - 41.082.364
Synonym name
  • quivering, mouse, homolog of
  • beta-IV spectrin
  • Synonym symbol(s) SPTBN3, KIAA1642, QV, SPNB4
    DNA
    TYPE functioning gene
    STRUCTURE 109.24 kb     36 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    36 splicing 8705 288.9 2564 predominant spectrin at axon initial segments (AIS) 2007 17197442
  • variant sigma1
  • only betaIV spectrin with an actin-binding domain
  • a master-stabilizing factor of axon initial segments (AIS) and nodes of Ranvier (NR) membranes
  • 10 splicing 2419 77 678 - 2007 17197442
  • variant sigma6
  • containing a distinct 5' and 3' UTR and lacking an in-frame portion of the 5' and 3' coding region compared to variant sigma1
  • N-terminal-truncated isoform, Sigma6, which is expressed at much higher levels than the full-length isoform Sigma1
  • plays a specific role in clustering voltage-gated sodium channels, whereas it is dispensable for membrane stabilization at axon initial segments and nodes of Ranvier
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland   highly
     pancreas   highly Mus musculus
    Nervousbrain   moderately
     nervespinal nerve  predominantly Homo sapiens
    Visualeye   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Mus musculus
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion moderately in blood
    at STAGE
    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