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Description for Protein SPTBN2

spectrin, beta, non-erythrocytic 2
9 total interacting proteins; 7 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 1)
Summary:
Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SPECTRIN: Spectrin repeat
  • CC: Coiled Coil
  • CH: Calponin homology domain
  • PH: Pleckstrin homology domain.
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K06115
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Spectrin beta 3; Spectrin beta chain, brain 2; KIAA0302; MGC99874; Spnb3
    Approved Symbol:
    SPTBN2
    (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):

    None Available

    Associated Genetic Diseases:

  • Spinocerebellar ataxia 5(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05404 Entrez Gene ID: 6712 OMIM ID: 604985 Swissprot Accession: O15020;