PSEN2
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Namepresenilin 2 OMIM IDMIM:600759 Ensembl IDEnsembl:ENSG00000143801 HGNC IDHGNC:HGNC:9509 PHARMGKB IDPA33856 Map Location1q42.13 | |||||
GO terms in PSEN2
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0004175 | endopeptidase activity |
| MF | TAS | GO:0004190 | aspartic-type endopeptidase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0042500 | aspartic endopeptidase activity, intramembrane cleaving |
| CC | IEA | GO:0000139 | Golgi membrane |
| CC | IDA | GO:0000776 | kinetochore |
Gene expression in normal tissue: PSEN2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PSEN2
Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | hivnefpathway | hiv-1 nef: negative effector of fas and tnf |
| 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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PSEN2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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