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: 1 H4|1 84.19 cM
Cellular Component:  apical plasma membrane; centrosome; ciliary basal body; cytosol; early endosome; endoplasmic reticulum; Golgi apparatus; integral component of membrane; integral component of plasma membrane; integral component of presynaptic membrane; kinetochore; membrane; neuronal cell body; nuclear inner membrane; nucleus; perinuclear region of cytoplasm; plasma membrane; protein-containing complex; synaptic membrane; synaptic vesicle; Z disc
Molecular Function:  aspartic endopeptidase activity, intramembrane cleaving; aspartic-type endopeptidase activity; endopeptidase activity; hydrolase activity; peptidase activity; protein binding
Biological Process:  amyloid precursor protein catabolic process; amyloid-beta metabolic process; brain morphogenesis; calcium ion transport; cardiac muscle contraction; cell fate specification; cellular protein metabolic process; dorsal/ventral neural tube patterning; embryonic limb morphogenesis; endoplasmic reticulum calcium ion homeostasis; forebrain development; hair follicle development; hematopoietic progenitor cell differentiation; intracellular signal transduction; learning or memory; locomotion; lung alveolus development; membrane protein ectodomain proteolysis; memory; mitochondrion-endoplasmic reticulum membrane tethering; myeloid leukocyte differentiation; negative regulation of apoptotic signaling pathway; negative regulation of epidermal growth factor-activated receptor activity; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors; negative regulation of protein binding; negative regulation of protein complex assembly; negative regulation of protein phosphorylation; negative regulation of transcription by RNA polymerase II; negative regulation of ubiquitin-dependent protein catabolic process; negative regulation of ubiquitin-protein transferase activity; neuron cellular homeostasis; Notch receptor processing; Notch signaling pathway; positive regulation of apoptotic process; positive regulation of catalytic activity; positive regulation of coagulation; positive regulation of extrinsic apoptotic signaling pathway via death domain receptors; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of receptor recycling; protein maturation; protein processing; protein transport; proteolysis; regulation of calcium import into the mitochondrion; regulation of epidermal growth factor-activated receptor activity; regulation of protein binding; regulation of synaptic plasticity; skin morphogenesis; somitogenesis; T cell activation involved in immune response; T cell receptor signaling pathway; thymus development
Reference #:  Q61144 (UniProtKB)
Alt. Names/Synonyms: Ad4; Ad4h; AI266870; ALG; ALG-3; Alg3; OTTMUSP00000023891; OTTMUSP00000023892; OTTMUSP00000023893; OTTMUSP00000023895; presenilin 2; Presenilin-2; Presenilin-2 CTF subunit; Presenilin-2 NTF subunit; PS-2; PS2; Psen2; PSN2; Psnl2; STM2
Gene Symbols: Psen2
Molecular weight: 49,983 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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PSEN2

Protein Structure Not Found.

Cross-references to other databases:  STRING  |  Reactome  |  BioGPS  |  Pfam  |  ENZYME  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene