Summary: Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. Mutations resulting in haploinsufficiency for this gene cause familial acne inversa-2 (ACNINV2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].

presenilin enhancer, gamma-secretase subunitMIM:607632Ensembl:ENSG00000205155HGNC:HGNC:30100PA14267112219q13.12

Gene Categories:


GO terms in PSENEN

Term TypeEvidence TypeGO Term IDGO Des.
MFIPIGO:0005515protein binding
CCIDAGO:0005783endoplasmic reticulum
CCIEAGO:0005789endoplasmic reticulum membrane
CCIDAGO:0005794Golgi apparatus
CCTASGO:0005886plasma membrane
CCIDAGO:0005887integral component of plasma membrane
CCIDAGO:0016021integral component of membrane
CCIEAGO:0032580Golgi cisterna membrane
CCIBAGO:0070765gamma-secretase complex
CCIDAGO:0070765gamma-secretase complex
BPIDAGO:0006509membrane protein ectodomain proteolysis
BPTASGO:0007219Notch signaling pathway
BPIBAGO:0007220Notch receptor processing
BPTASGO:0007220Notch receptor processing
BPIDAGO:0016485protein processing
BPIMPGO:0034205amyloid-beta formation
BPTASGO:0035333Notch receptor processing, ligand-dependent
BPIDAGO:0042982amyloid precursor protein metabolic process
BPTASGO:0042987amyloid precursor protein catabolic process
BPIDAGO:0043085positive regulation of catalytic activity

Gene expression in normal tissue: PSENEN

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in PSENEN

DatabasePathway IDPathway Des.
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
pidnotch_pathwayNotch signaling pathway
pidp75ntrpathwayp75(NTR)-mediated signaling
pidps1pathwayPresenilin action in Notch and Wnt signaling
pidsyndecan_3_pathwaySyndecan-3-mediated signaling events
kegghsa04330Notch signaling pathway - Homo sapiens (human)
kegghsa05010Alzheimer,s disease - Homo sapiens (human)
wikipathwaysWP2059Alzheimers Disease
wikipathwaysWP61Notch Signaling Pathway

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in PSENEN