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PSEN2-202 ,PSEN2 ,P49810
  • Uniprot Accession= P49810
  • Ensembl Transcript= ENST00000366783.8
  • Uniprot Name= PSEN2
  • Name= Presenilin-2
  • Chromosome= chr1
  • Driver status= Not Cancer Driver
  • Number of GO Term: 27
GO term GO name GO namespace GO def
GO:0005515 protein binding molecular_function Binding to a protein. [GOC:go_curators]
GO:0042500 aspartic endopeptidase activity, intramembrane cleaving molecular_function Catalysis of the hydrolysis of nonterminal peptide bonds in a polypeptide chain, occurring within a membrane. [GOC:jl, ISBN:0198506732]
GO:0001666 response to hypoxia biological_process Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. [GOC:hjd]
GO:0006509 membrane protein ectodomain proteolysis biological_process The proteolytic cleavage of transmembrane proteins and release of their ectodomain (extracellular domain). [GOC:jl, http://www.copewithcytokines.de/]
GO:0007219 Notch signaling pathway biological_process The series of molecular signals initiated by an extracellular ligand binding to the receptor Notch on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. [GOC:go_curators, GOC:signaling]
GO:0007220 Notch receptor processing biological_process The series of successive proteolytic cleavages of the Notch protein, which result in an active form of the receptor. [PMID:12651094, PMID:14986688]
GO:0016485 protein processing biological_process Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. [GOC:curators, GOC:jl, GOC:jsg]
GO:0034205 amyloid-beta formation biological_process The generation of amyloid-beta by cleavage of the amyloid precursor protein (APP). [GOC:mah]
GO:0035556 intracellular signal transduction biological_process The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. [GOC:bf, GOC:jl, GOC:signaling, ISBN:3527303782]
GO:0042987 amyloid precursor protein catabolic process biological_process The chemical reactions and pathways resulting in the breakdown of amyloid precursor protein (APP), the precursor of amyloid-beta, a glycoprotein associated with Alzheimer's disease. [GOC:go_curators]
GO:0043085 positive regulation of catalytic activity biological_process Any process that activates or increases the activity of an enzyme. [GOC:ebc, GOC:jl, GOC:tb, GOC:vw]
GO:0110097 regulation of calcium import into the mitochondrion biological_process Any process that modulates the frequency, rate or extent of calcium import into the mitochondrion. [GOC:sl, PMID:24085037]
GO:1990456 mitochondrion-endoplasmic reticulum membrane tethering biological_process The attachment of a mitochondrion and an endoplasmic reticulum via molecular tethers that physically bridge their respective membranes and attach them to each other. The tethering may facilitate exchange of metabolites between the organelles. [PMID:19556461, PMID:27875684]
GO:0000139 Golgi membrane cellular_component The lipid bilayer surrounding any of the compartments of the Golgi apparatus. [GOC:mah]
GO:0000776 kinetochore cellular_component A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules. [GOC:elh]
GO:0005637 nuclear inner membrane cellular_component The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope. [GOC:ma]
GO:0005769 early endosome cellular_component A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. [GOC:mah, NIF_Subcellular:nlx_subcell_20090701, PMID:19696797]
GO:0005783 endoplasmic reticulum cellular_component The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). [ISBN:0198506732]
GO:0005789 endoplasmic reticulum membrane cellular_component The lipid bilayer surrounding the endoplasmic reticulum. [GOC:mah]
GO:0005794 Golgi apparatus cellular_component A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. [ISBN:0198506732]
GO:0005813 centrosome cellular_component A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. [GOC:mah, ISBN:0198547684]
GO:0005886 plasma membrane cellular_component The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. [ISBN:0716731363]
GO:0008021 synaptic vesicle cellular_component A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane. [PMID:10099709, PMID:12563290]
GO:0016020 membrane cellular_component A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. [GOC:dos, GOC:mah, ISBN:0815316194]
GO:0042734 presynaptic membrane cellular_component A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma membrane. [GOC:jl, ISBN:0815316194]
GO:0032991 protein-containing complex cellular_component A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. [GOC:dos, GOC:mah]
GO:0070765 gamma-secretase complex cellular_component A protein complex that has aspartic-type endopeptidase activity and contains a presenilin catalytic subunit (either PSEN1 or PSEN2), an APH1 subunit (multiple genes and splice variants exist), nicastrin (NCT), and presenilin enhancer (aka PEN-2 or Psenen), as the core complex. Variants of the complex with different subunit compositions differ in localization and specific substrates. Additionally, variants of the complex exist that contain a additional regulatory subunit as well as the four core subunits; known regulatory subunits include gamma-secretase-activating protein (aka gSAP), TMP1 (aka TMED10), and CD147 antigen (aka basigin). Gamma-secretase cleaves type I transmembrane protein substrates, including the cell surface receptor Notch and the amyloid-beta precursor protein. [GOC:krc, PMID:15286082, PMID:15890777, PMID:17047368, PMID:22122073, PMID:25565961, PMID:28320827, PMID:32616437]