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Description for Protein ATP2A2

ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
10 total interacting proteins; 4 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 7/0)
(ATP binding: 1; membrane: 2; microparticles: 1; platelet: 7)
Summary:
This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.6.3.8
    KEGG - Orthology:
    K05853
    KEGG - Pathway(s):
    hsa04020; hsa04260; hsa05010; hsa05410; hsa05412; hsa05414
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    SERCA2; ATPase, Ca(2+) transporting, slow twitch; ATP2B; Sarcoplasmic reticulum Ca(2+) ATPase 2; Calcium pump 2; SR Ca(2+) ATPase 2; Calcium transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform; Endoplasmic reticulum class 1/2 Ca(2+) ATPase; ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 isoform 2; ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 isoform 1
    Approved Symbol:
    ATP2A2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 8
    Human (de-) phosphorylation sites: 8; 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:

  • Acrokeratosis verruciformis(Pd);
  • Darier disease(Pd);
  • Darier disease, acral hemorrhagic type(Pd);
  • Darier disease, segmental(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 8
  • Isoform 2 : 7
  • Isoform 1 : 8
    • Additional Identifiers:

    HPRD: 00161 Entrez Gene ID: 488 OMIM ID: 108740 Swissprot Accession: P16615; B4DF05;