PSEN2 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 (beta-amyloid precursor protein). An integral membrane protein of the Golgi and endoplasmic reticulum. 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. Two alternative splice isoforms have been identified. Note: This description may include information from UniProtKB.
Protein type: Cell surface; EC 3.4.23.-; Membrane protein, integral; Membrane protein, multi-pass; Protease
Chromosomal Location of Human Ortholog: 1q42.13
Cellular Component:  apical plasma membrane; axon; cell cortex; cell soma; cell surface; centrosome; ciliary rootlet; dendritic shaft; endoplasmic reticulum; endoplasmic reticulum membrane; Golgi apparatus; Golgi membrane; growth cone; integral component of plasma membrane; kinetochore; lysosomal membrane; membrane raft; mitochondrial inner membrane; neuromuscular junction; nuclear inner membrane; nucleus; perinuclear region of cytoplasm; plasma membrane; Z disc
Molecular Function:  aspartic endopeptidase activity, intramembrane cleaving; aspartic-type endopeptidase activity; endopeptidase activity; protein binding
Biological Process:  amyloid precursor protein catabolic process; beta-amyloid metabolic process; calcium ion transport; membrane protein ectodomain proteolysis; negative regulation of apoptosis; Notch receptor processing; Notch signaling pathway; positive regulation of catalytic activity; protein processing; response to hypoxia
Disease: Alzheimer Disease 4; Cardiomyopathy, Dilated, 1v
Reference #:  P49810 (UniProtKB)
Alt. Names/Synonyms: AD3L; AD3LP; AD4; AD5; Alzheimer's disease 3-like; E5-1; presenilin 2 (Alzheimer disease 4); Presenilin-2; Presenilin-2 CTF subunit; Presenilin-2 NTF subunit; PS-2; PS2; PSEN2; PSN2; PSNL2; STM-2; STM2
Gene Symbols: PSEN2
Molecular weight: 50,140 Da
Basal Isoelectric point: 4.51  Predict pI for various phosphorylation states
CST Pathways:  Alzheimer's Disease  |  ErbB/HER Signaling  |  ESC Pluripotency and Differentiation  |  Notch Signaling
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  ENZYME  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  Ensembl Protein