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Description for Protein PSEN2

presenilin 2 (Alzheimer disease 4)
41 total interacting proteins; 23 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • PSN: Presenilin, signal peptide peptidase, family
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.4.23.-
    KEGG - Orthology:
    K04522
    KEGG - Pathway(s):
    hsa04330; hsa05010
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    AD4; PS2; AD3L; STM2; Alzheimer disease 3 like; E5-1; AD3LP; PSNL2; Presenilin 2 isoform 1; Presenilin 2 isoform 2
    Approved Symbol:
    PSEN2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 11
    Human (de-) phosphorylation sites: 11; 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:

  • Alzheimer disease, familial, 4(Pd);
  • Cardiomyopathy, dilated, 1V(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 9
  • Isoform 1 : 9
    • Additional Identifiers:

    HPRD: 02860 Entrez Gene ID: 5664 OMIM ID: 600759 Swissprot Accession: P49810; A8K8D4;