Aliases for PSEN2 Gene
External Ids for PSEN2 Gene
Previous HGNC Symbols for PSEN2 Gene
Previous GeneCards Identifiers for PSEN2 Gene
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, Jul 2008]
GeneCards Summary for PSEN2 Gene
PSEN2 (Presenilin 2) is a Protein Coding gene. Diseases associated with PSEN2 include Alzheimer Disease 4 and Cardiomyopathy, Dilated, 1V. Among its related pathways are NOTCH2 Activation and Transmission of Signal to the Nucleus and Presenilin-Mediated Signaling. Gene Ontology (GO) annotations related to this gene include endopeptidase activity and aspartic-type endopeptidase activity. An important paralog of this gene is ENSG00000288674.
UniProtKB/Swiss-Prot Summary for PSEN2 Gene
Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. May function in the cytoplasmic partitioning of proteins. The holoprotein functions as a calcium-leak channel that allows the passive movement of calcium from endoplasmic reticulum to cytosol and is involved in calcium homeostasis (PubMed:16959576). Is a regulator of mitochondrion-endoplasmic reticulum membrane tethering and modulates calcium ions shuttling between ER and mitochondria (PubMed:21285369).
gamma-secretase is a multi-subunit internal protease that cleaves within the transmembrane domain of its substrates. It is an integral membrane protein and minimally consists of four proteins; presenilin, nicastrin, APH-1 and PEN-2. gamma-secretase is involved in the processing of Notch.