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Description for Protein CACNB4

calcium channel, voltage-dependent, beta 4 subunit
7 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SH3: Src homology 3 domains
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04865
    KEGG - Pathway(s):
    hsa04010; hsa04260; hsa05410; hsa05412; hsa05414
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Calcium channel, voltage-dependent, beta 4 subunit isoform c; Calcium channel, voltage-dependent, beta 4 subunit isoform b; Dihydropyridine sensitive L-type calcium channel beta 4 subunit; Voltage dependent calcium channel beta 4 subunit; CAB4; CACNLB4; Calcium channel, voltage-dependent, beta 4 subunit isoform a
    Approved Symbol:
    CACNB4
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 9
    Human (de-) phosphorylation sites: 9; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Mibefradil(db);
  • Nimodipine(db);
  • Verapamil(db)

    Associated Genetic Diseases:

  • Epilepsy, generalized idiopathic(Pd);
  • Epilepsy, juvenile myoclonic(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 09057 Entrez Gene ID: 785 OMIM ID: 601949 Swissprot Accession: O00305; A8K1Y4; B4DG40;