Summary: 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].

presenilin 2MIM:600759Ensembl:ENSG00000143801HGNC:HGNC:9509PA338561q42.13

GO terms in PSEN2

Term TypeEvidence TypeGO Term IDGO Des.
MFIBAGO:0004175endopeptidase activity
MFTASGO:0004190aspartic-type endopeptidase activity
MFIPIGO:0005515protein binding
MFIEAGO:0042500aspartic endopeptidase activity, intramembrane cleaving
CCIEAGO:0000139Golgi membrane
CCIDAGO:0005637nuclear inner membrane
CCIBAGO:0005743mitochondrial inner membrane
CCIBAGO:0005765lysosomal membrane
CCIDAGO:0005783endoplasmic reticulum
CCIEAGO:0005789endoplasmic reticulum membrane
CCIDAGO:0005794Golgi apparatus
CCTASGO:0005886plasma membrane
CCIBAGO:0005887integral component of plasma membrane
CCIDAGO:0005887integral component of plasma membrane
CCIBAGO:0005938cell cortex
CCIBAGO:0009986cell surface
CCIBAGO:0016324apical plasma membrane
CCIBAGO:0030018Z disc
CCIBAGO:0030426growth cone
CCIBAGO:0031594neuromuscular junction
CCIDAGO:0032991protein-containing complex
CCIBAGO:0035253ciliary rootlet
CCIBAGO:0043025neuronal cell body
CCIBAGO:0043198dendritic shaft
CCIBAGO:0045121membrane raft
CCIBAGO:0048471perinuclear region of cytoplasm
BPIEAGO:0001666response to hypoxia
BPIBAGO:0006509membrane protein ectodomain proteolysis
BPIDAGO:0006509membrane protein ectodomain proteolysis
BPIBAGO:0006816calcium ion transport
BPTASGO:0007219Notch signaling pathway
BPIBAGO:0007220Notch receptor processing
BPTASGO:0007220Notch receptor processing
BPIDAGO:0016485protein processing
BPTASGO:0035333Notch receptor processing, ligand-dependent
BPIEAGO:0035556intracellular signal transduction
BPIBAGO:0042987amyloid precursor protein catabolic process
BPTASGO:0042987amyloid precursor protein catabolic process
BPIBAGO:0043066negative regulation of apoptotic process
BPIDAGO:0043085positive regulation of catalytic activity
BPIBAGO:0050435amyloid-beta metabolic process

Gene expression in normal tissue: PSEN2

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in PSEN2

DatabasePathway IDPathway Des.
biocartahivnefpathwayhiv-1 nef: negative effector of fas and tnf
reactomeR-HSA-1236394Signaling by ERBB4
reactomeR-HSA-1251985Nuclear signaling by ERBB4
reactomeR-HSA-1266738Developmental Biology
reactomeR-HSA-157118Signaling by NOTCH
reactomeR-HSA-157118Signaling by NOTCH
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-193692Regulated proteolysis of p75NTR
reactomeR-HSA-193704p75 NTR receptor-mediated signalling
reactomeR-HSA-1980143Signaling by NOTCH1
reactomeR-HSA-1980145Signaling by NOTCH2
reactomeR-HSA-204998Cell death signalling via NRAGE, NRIF and NADE
reactomeR-HSA-205043NRIF signals cell death from the nucleus
reactomeR-HSA-2122948Activated NOTCH1 Transmits Signal to the Nucleus
reactomeR-HSA-2644602Signaling by NOTCH1 PEST Domain Mutants in Cancer
reactomeR-HSA-2644603Signaling by NOTCH1 in Cancer
reactomeR-HSA-2644606Constitutive Signaling by NOTCH1 PEST Domain Mutants
reactomeR-HSA-2682334EPH-Ephrin signaling
reactomeR-HSA-2894858Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer
reactomeR-HSA-2894862Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
reactomeR-HSA-2979096NOTCH2 Activation and Transmission of Signal to the Nucleus
reactomeR-HSA-3928665EPH-ephrin mediated repulsion of cells
reactomeR-HSA-422475Axon guidance
reactomeR-HSA-5663202Diseases of signal transduction
reactomeR-HSA-73887Death Receptor Signalling
reactomeR-HSA-9006934Signaling by Receptor Tyrosine Kinases
reactomeR-HSA-9012852Signaling by NOTCH3
reactomeR-HSA-9013507NOTCH3 Activation and Transmission of Signal to the Nucleus
reactomeR-HSA-9013694Signaling by NOTCH4
reactomeR-HSA-9013700NOTCH4 Activation and Transmission of Signal to the Nucleus
reactomeR-HSA-9017802Noncanonical activation of NOTCH3
wikipathwaysWP2059Alzheimers Disease
wikipathwaysWP268Notch Signaling Pathway
wikipathwaysWP3845Canonical and Non-canonical Notch signaling
wikipathwaysWP4242Notch Signaling Pathway
wikipathwaysWP61Notch Signaling Pathway
pidlkb1_pathwayLKB1 signaling events
kegghsa04330Notch signaling pathway - Homo sapiens (human)
kegghsa04722Neurotrophin signaling pathway - Homo sapiens (human)
kegghsa05010Alzheimer,s disease - Homo sapiens (human)

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.
iGMDRD286Nsc 6328393

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in PSEN2