PSENEN
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:607632 Ensembl IDEnsembl:ENSG00000205155 HGNC IDHGNC:HGNC:30100 PHARMGKB IDPA142671122 Map Location19q13.12 |
Gene Categories:
DRUGGABLE GENOMEGO terms in PSENEN
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IPI | GO:0005515 | protein binding |
CC | IDA | GO:0005783 | endoplasmic reticulum |
CC | IEA | GO:0005789 | endoplasmic reticulum membrane |
CC | IDA | GO:0005794 | Golgi apparatus |
CC | TAS | GO:0005886 | plasma membrane |
CC | IDA | GO:0005887 | integral component of plasma membrane |
Gene expression in normal tissue: PSENEN
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PSENEN
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-1236394 | Signaling by ERBB4 |
reactome | R-HSA-1251985 | Nuclear signaling by ERBB4 |
reactome | R-HSA-1266738 | Developmental Biology |
reactome | R-HSA-157118 | Signaling by NOTCH |
reactome | R-HSA-157118 | Signaling by NOTCH |
reactome | R-HSA-162582 | Signal Transduction |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in PSENEN
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
---|---|---|---|---|---|---|---|---|
No matching records found |