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PSEN2 ,PSEN2 ,P49810
  • Uniprot Accession= P49810
  • Ensembl Transcript= ENST00000366783.7
  • Uniprot Name= PSEN2
  • Name= Presenilin-2
  • Chromosome= chr1
  • Driver status= Not Cancer Driver
  • Number of GO Term: 69
GO term GO name GO namespace GO def
GO:0051049 regulation of transport biological_process Any process that modulates the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. [GOC:ai]
GO:0050789 regulation of biological process biological_process Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. [GOC:ai, GOC:go_curators]
GO:0031594 neuromuscular junction cellular_component The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. [GOC:nln]
GO:0032879 regulation of localization biological_process Any process that modulates the frequency, rate or extent of any process in which a cell, a substance, or a cellular entity is transported to, or maintained in, a specific location. [GOC:mah]
GO:0009987 cellular process biological_process Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. [GOC:go_curators, GOC:isa_complete]
GO:0110165 cellular anatomical entity cellular_component A part of a cellular organism that is either an immaterial entity or a material entity with granularity above the level of a protein complex but below that of an anatomical system. Or, a substance produced by a cellular organism with granularity above the level of a protein complex. [GOC:kmv]
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: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:0030018 Z disc cellular_component Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. [GOC:mtg_muscle, ISBN:0815316194]
GO:0030426 growth cone cellular_component The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic. [GOC:aruk, GOC:bc, ISBN:0815316194, PMID:10082468]
GO:0004175 endopeptidase activity molecular_function Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain. [http://merops.sanger.ac.uk/about/glossary.htm#ENDOPEPTIDASE]
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:0043025 neuronal cell body cellular_component The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. [GOC:go_curators]
GO:0010959 regulation of metal ion transport biological_process Any process that modulates the frequency, rate, or extent of metal ion transport. Metal ion transport is the directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. [GOC:dph, GOC:tb]
GO:0005765 lysosomal membrane cellular_component The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. [GOC:ai]
GO:0016787 hydrolase activity molecular_function Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3. [ISBN:0198506732]
GO:0098797 plasma membrane protein complex cellular_component Any protein complex that is part of the plasma membrane. [GOC:dos]
GO:0016043 cellular component organization biological_process A process that results in the assembly, arrangement of constituent parts, or disassembly of a cellular component. [GOC:ai, GOC:jl, GOC:mah]
GO:0140096 catalytic activity, acting on a protein molecular_function Catalytic activity that acts to modify a protein. [GOC:molecular_function_refactoring, GOC:pdt]
GO:0005515 protein binding molecular_function Binding to a protein. [GOC:go_curators]
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:0050794 regulation of cellular process biological_process Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. [GOC:go_curators]
GO:0000139 Golgi membrane cellular_component The lipid bilayer surrounding any of the compartments of the Golgi apparatus. [GOC:mah]
GO:0005637 nuclear inner membrane cellular_component The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope. [GOC:ma]
GO:0016324 apical plasma membrane cellular_component The region of the plasma membrane located at the apical end of the cell. [GOC:curators]
GO:0048471 perinuclear region of cytoplasm cellular_component Cytoplasm situated near, or occurring around, the nucleus. [GOC:jid]
GO:0043269 regulation of ion transport biological_process Any process that modulates the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. [GOC:jl]
GO:0044238 primary metabolic process biological_process The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. [GOC:go_curators, http://www.metacyc.org]
GO:0005887 integral component of plasma membrane cellular_component The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. [GOC:dos, GOC:go_curators]
GO:0045121 membrane raft cellular_component Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. [PMID:16645198, PMID:20044567]
GO:0016020 membrane cellular_component A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. [GOC:dos, GOC:mah, ISBN:0815316194]
GO:0098796 membrane protein complex cellular_component Any protein complex that is part of a membrane. [GOC:dos]
GO:1901564 organonitrogen compound metabolic process biological_process The chemical reactions and pathways involving organonitrogen compound. [GOC:pr, GOC:TermGenie]
GO:0005938 cell cortex cellular_component The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. [GOC:mah, ISBN:0815316194]
GO:0008152 metabolic process biological_process The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation. [GOC:go_curators, ISBN:0198547684]
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:0065007 biological regulation biological_process Any process that modulates a measurable attribute of any biological process, quality or function. [GOC:dph, GOC:isa_complete, GOC:mah, GOC:pr, GOC:vw]
GO:0003824 catalytic activity molecular_function Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. [GOC:vw, ISBN:0198506732]
GO:0043603 cellular amide metabolic process biological_process The chemical reactions and pathways involving an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group, as carried out by individual cells. [GOC:curators]
GO:0044260 cellular macromolecule metabolic process biological_process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells. [GOC:mah]
GO:0006816 calcium ion transport biological_process The directed movement of calcium (Ca) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. [GOC:ai]
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:0043066 negative regulation of apoptotic process biological_process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. [GOC:jl, GOC:mtg_apoptosis]
GO:0044237 cellular metabolic process biological_process The chemical reactions and pathways by which individual cells transform chemical substances. [GOC:go_curators]
GO:0008233 peptidase activity molecular_function Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid. [GOC:jl, ISBN:0815332181]
GO:0051640 organelle localization biological_process Any process in which an organelle is transported to, and/or maintained in, a specific location. [GOC:ai]
GO:0007219 Notch signaling pathway biological_process A series of molecular signals initiated by the binding of an extracellular ligand to the receptor Notch on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription. [GOC:go_curators, GOC:signaling]
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: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:0071704 organic substance metabolic process biological_process The chemical reactions and pathways involving an organic substance, any molecular entity containing carbon. [GOC:mah]
GO:0034765 regulation of ion transmembrane transport biological_process Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. [GOC:mah]
GO:0019538 protein metabolic process biological_process The chemical reactions and pathways involving a protein. Includes protein modification. [GOC:ma]
GO:0034762 regulation of transmembrane transport biological_process Any process that modulates the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. [GOC:mah]
GO:0051924 regulation of calcium ion transport biological_process Any process that modulates the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. [GOC:ai]
GO:0006518 peptide metabolic process biological_process The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. [GOC:go_curators]
GO:0006807 nitrogen compound metabolic process biological_process The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen. [GOC:jl, ISBN:0198506732]
GO:0071840 cellular component organization or biogenesis biological_process A process that results in the biosynthesis of constituent macromolecules, assembly, arrangement of constituent parts, or disassembly of a cellular component. [GOC:mah]
GO:0044267 cellular protein metabolic process biological_process The chemical reactions and pathways involving a specific protein, rather than of proteins in general, occurring at the level of an individual cell. Includes cellular protein modification. [GOC:jl]
GO:0051179 localization biological_process Any process in which a cell, a substance, or a cellular entity, such as a protein complex or organelle, is transported, tethered to or otherwise maintained in a specific location. In the case of substances, localization may also be achieved via selective degradation. [GOC:ai, GOC:dos]
GO:0034641 cellular nitrogen compound metabolic process biological_process The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells. [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:1904062 regulation of cation transmembrane transport biological_process Any process that modulates the frequency, rate or extent of cation transmembrane transport. [GO_REF:0000058, GOC:TermGenie, PMID:15304482]
GO:0043170 macromolecule metabolic process biological_process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. [GOC:mah]
GO:0051641 cellular localization biological_process A cellular localization process whereby a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a cell including the localization of substances or cellular entities to the cell membrane. [GOC:tb, GOC:vw]
GO:0005789 endoplasmic reticulum membrane cellular_component The lipid bilayer surrounding the endoplasmic reticulum. [GOC:mah]
GO:0005634 nucleus cellular_component A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. [GOC:go_curators]
GO:0005743 mitochondrial inner membrane cellular_component The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. [GOC:ai]
GO:0009986 cell surface cellular_component The external part of the cell wall and/or plasma membrane. [GOC:jl, GOC:mtg_sensu, GOC:sm]
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]