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Description for Protein SCN2A

sodium channel, voltage-gated, type II, alpha subunit
5 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is heterogeneously expressed in the brain, and mutations in this gene have been linked to several seizure disorders. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • IQ: Short calmodulin-binding motif containing conserved Ile and Gln residues.
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04834
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    HBSC II; Sodium channel protein type II alpha subunit; Sodium channel protein brain II alpha subunit; Sodium channel voltage gated type II alpha 2 subunit; Sodium channel, voltage-gated, type II, alpha isoform 2; Sodium channel, voltage-gated, type II, alpha isoform 1
    Approved Symbol:
    SCN2A
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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):

  • Fospropofol(db);
  • Lamotrigine(db);
  • Propofol(db);
  • Zonisamide(db)

    Associated Genetic Diseases:

    None Available
    		• Predicted Transmembrane Domains:
    03133_3(19)
    03133_2(17)
    03133_1(17)
    Additional Identifiers:

    HPRD: 03133 Entrez Gene ID: 6326 OMIM ID: 182390 Swissprot Accession: Q99250;