NP_036618.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
50,140 Da
NCBI Official Full Name
presenilin-2 isoform 2
NCBI Official Synonym Full Names
presenilin 2 (Alzheimer disease 4)
NCBI Protein Information
presenilin-2; AD5; E5-1; PS-2; AD3LP; STM-2
UniProt Protein Name
Presenilin-2
UniProt Synonym Protein Names
AD3LP; AD5; E5-1; STM-2
UniProt Synonym Gene Names
UniProt Entry Name
PSN2_HUMAN
NCBI Summary for PS2
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008]
UniProt Comments for PS2
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.
Protein type: Membrane protein, multi-pass; Membrane protein, integral; Protease; EC 3.4.23.-; Cell surface
Chromosomal Location of Human Ortholog: 1q42.13
Cellular Component: Golgi apparatus; centrosome; cell surface; lysosomal membrane; integral to plasma membrane; nuclear inner membrane; cytosol; lipid raft; ciliary rootlet; kinetochore; membrane; cell soma; perinuclear region of cytoplasm; mitochondrial inner membrane; apical plasma membrane; dendritic shaft; neuromuscular junction; endoplasmic reticulum membrane; protein complex; endoplasmic reticulum; cell cortex; Z disc; Golgi membrane; growth cone; axon; plasma membrane
Molecular Function: protein binding; endopeptidase activity; aspartic-type endopeptidase activity
Biological Process: positive regulation of catalytic activity; axon guidance; nerve growth factor receptor signaling pathway; positive regulation of apoptosis; protein maturation; regulation of synaptic plasticity; cell fate specification; positive regulation of coagulation; T cell receptor signaling pathway; T cell activation during immune response; protein transport; amyloid precursor protein catabolic process; negative regulation of protein amino acid phosphorylation; hair follicle development; beta-amyloid metabolic process; calcium ion transport; forebrain development; ephrin receptor signaling pathway; brain morphogenesis; negative regulation of protein binding; dorsoventral neural tube patterning; embryonic limb morphogenesis; cardiac muscle contraction; Notch signaling pathway; somitogenesis; membrane protein intracellular domain proteolysis; thymus development; regulation of epidermal growth factor receptor activity; membrane protein ectodomain proteolysis; Notch receptor processing; memory; endoplasmic reticulum calcium ion homeostasis; myeloid leukocyte differentiation; response to hypoxia; hemopoietic progenitor cell differentiation; protein processing; negative regulation of protein complex assembly; alveolus development; negative regulation of apoptosis
Disease: Alzheimer Disease 4; Cardiomyopathy, Dilated, 1v
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Pathways associated with PS2 elisa kit
Diseases associated with PS2 elisa kit
Organs/Tissues associated with PS2 elisa kit
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