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 (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. Is a regulator of mitochondrion-endoplasmic reticulum membrane tethering and modulates calcium ions shuttling between ER and mitochondria. Belongs to the peptidase A22A family. Isoform 1 is seen in the placenta, skeletal muscle and heart while isoform 2 is seen in the heart, brain, placenta, liver, skeletal muscle and kidney. 3 alternatively spliced human isoforms have been reported. 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:  centrosome; early endosome; endoplasmic reticulum; endoplasmic reticulum membrane; Golgi apparatus; Golgi membrane; integral component of plasma membrane; integral component of presynaptic membrane; kinetochore; nuclear inner membrane; plasma membrane; protein-containing complex; synaptic vesicle
Molecular Function:  aspartic endopeptidase activity, intramembrane cleaving; protein binding
Biological Process:  amyloid precursor protein catabolic process; ephrin receptor signaling pathway; intracellular signal transduction; membrane protein ectodomain proteolysis; membrane protein intracellular domain proteolysis; mitochondrion-endoplasmic reticulum membrane tethering; Notch receptor processing; Notch receptor processing, ligand-dependent; positive regulation of apoptotic process; positive regulation of catalytic activity; protein processing; regulation of calcium import into the mitochondrion; 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, siRNAs or Recombinant Proteins 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