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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
    Physical map
    CLC 19q13.1 Charot-Leyden crystal protein LOC342900 19q13.2 hypothetical LOC342900 DYRK1B 19q12-q13.11 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B FBL 19q13.1 fibrillarin FCGBP 19q13.1 Fc fragment of IgG binding protein LOC388540 19 hypothetical gene supported by BX640962; NM_018457 PSMC4 19q13.11-q13.13 proteasome (prosome, macropain) 26S subunit, ATPase, 4 MGC43537 19q13.2 hypothetical protein MGC43537 LOC390933 19 similar to hypothetical protein FLJ36874 LOC163131 19q13.2 similar to BC331191_1 LOC284323 19q13.2 hypothetical protein LOC284323 MAP3K10 19q13.2 mitogen-activated protein kinase kinase kinase 10 FLJ30373 19q13.2 hypothetical protein FLJ30373 FLJ13265 19q13.2 hypothetical protein FLJ13265 AKT2 19q13.2 v-akt murine thymoma viral oncogene homolog 2 FLJ36888 19q13.2 hypothetical protein FLJ36888 PLD3 19q13.2 phospholipase D3 FLJ32818 PRX 19q13.13-13.2 periaxin SEI1 19q13.1-q13.2 periaxin RBT1 19q13.1-q13.2 periaxin BLVRB 19q13.13-q13.2 biliverdin reductase B (flavin reductase (NADPH)) SPTBN4 19q13.13 spectrin, beta, non-erythrocytic 4 LOC92799 19q13.2 hypothetical protein BC007653 LTBP4 19q13.1-q13.2 latent transforming growth factor beta binding protein 4 NUMBL 19q13-q13.2 numb homolog (Drosophila)-like ADCK4 19q13.2 aarF domain containing kinase 4 ITPKC 19q13.1 inositol 1,4,5-trisphosphate 3-kinase C FLJ41131 19q13.2 FLJ41131 protein SNRPA 19q13.2 small nuclear ribonucleoprotein polypeptide A MIA 19q13.32-q13.33 melanoma inhibitory activity RAB4B 19q13.2 RAB4B, member RAS oncogene family EGLN2 19q13.2 egl nine homolog 2 (C. elegans) CYP2T2P 19q13.2 cytochrome P450, family 2, subfamily T, polypeptide 2 pseudogene CYP2F1P 19q13.2 cytochrome P450, family 2, subfamily F, polypeptide 1 pseudogene CYP2A6 19q13.2 cytochrome P450, family 2, subfamily A, polypeptide 6 CYP2A7 19q13.2 cytochrome P450, family 2, subfamily A, polypeptide 7 CYP2G1 19q13.2 cytochrome P450, family 2, subfamily G, polypeptide 1 pseudogene CYP2A7P1 19q13.2 cytochrome P450, family 2, subfamily A, polypeptide 7 pseudogene 1 CYP2B7 19q13.2 cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene CYP2B6 19q13.2 cytochrome P450, family 2, subfamily B, polypeptide 6 CYP2G2 19pter-p13.3 cytochrome P450, family 2, subfamily G, polypeptide 2 CYP2A13 19q13.2 cytochrome P450, family 2, subfamily A, polypeptide 13
    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