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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location

Gene Categories:

DRUGGABLE GENOME

GO terms in PSENEN


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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
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Gene expression in normal tissue: PSENEN

Gene-model tissue-cancer distribution: Bubble Plot

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Gene-drug pathway distribution

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Pathways in PSENEN


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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
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD781 Sirolimus 3
iGMDRD577 BIX01294 3
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in PSENEN

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
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