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 |
|---|---|---|---|---|---|
| presenilin 2 | MIM:600759 | Ensembl:ENSG00000143801 | HGNC:HGNC:9509 | PA33856 | 1q42.13 |
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 |
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005637 | nuclear inner membrane |
| CC | IBA | GO:0005743 | mitochondrial inner membrane |
| CC | IBA | GO:0005765 | lysosomal membrane |
| CC | IDA | GO:0005783 | endoplasmic reticulum |
| CC | IEA | GO:0005789 | endoplasmic reticulum membrane |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IDA | GO:0005813 | centrosome |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0005887 | integral component of plasma membrane |
| CC | IDA | GO:0005887 | integral component of plasma membrane |
| CC | IBA | GO:0005938 | cell cortex |
| CC | IBA | GO:0009986 | cell surface |
| CC | HDA | GO:0016020 | membrane |
| CC | IBA | GO:0016324 | apical plasma membrane |
| CC | IBA | GO:0030018 | Z disc |
| CC | IBA | GO:0030424 | axon |
| CC | IBA | GO:0030426 | growth cone |
| CC | IBA | GO:0031594 | neuromuscular junction |
| CC | IDA | GO:0032991 | protein-containing complex |
| CC | IBA | GO:0035253 | ciliary rootlet |
| CC | IBA | GO:0043025 | neuronal cell body |
| CC | IBA | GO:0043198 | dendritic shaft |
| CC | IBA | GO:0045121 | membrane raft |
| CC | IBA | GO:0048471 | perinuclear region of cytoplasm |
| BP | IEA | GO:0001666 | response to hypoxia |
| BP | IBA | GO:0006509 | membrane protein ectodomain proteolysis |
| BP | IDA | GO:0006509 | membrane protein ectodomain proteolysis |
| BP | IBA | GO:0006816 | calcium ion transport |
| BP | TAS | GO:0007219 | Notch signaling pathway |
| BP | IBA | GO:0007220 | Notch receptor processing |
| BP | TAS | GO:0007220 | Notch receptor processing |
| BP | IDA | GO:0016485 | protein processing |
| BP | TAS | GO:0035333 | Notch receptor processing, ligand-dependent |
| BP | IEA | GO:0035556 | intracellular signal transduction |
| BP | IBA | GO:0042987 | amyloid precursor protein catabolic process |
| BP | TAS | GO:0042987 | amyloid precursor protein catabolic process |
| BP | IBA | GO:0043066 | negative regulation of apoptotic process |
| BP | IDA | GO:0043085 | positive regulation of catalytic activity |
| BP | IBA | GO:0050435 | amyloid-beta metabolic process |
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 |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-193692 | Regulated proteolysis of p75NTR |
| reactome | R-HSA-193704 | p75 NTR receptor-mediated signalling |
| reactome | R-HSA-1980143 | Signaling by NOTCH1 |
| reactome | R-HSA-1980145 | Signaling by NOTCH2 |
| reactome | R-HSA-204998 | Cell death signalling via NRAGE, NRIF and NADE |
| reactome | R-HSA-205043 | NRIF signals cell death from the nucleus |
| reactome | R-HSA-2122948 | Activated NOTCH1 Transmits Signal to the Nucleus |
| reactome | R-HSA-2644602 | Signaling by NOTCH1 PEST Domain Mutants in Cancer |
| reactome | R-HSA-2644603 | Signaling by NOTCH1 in Cancer |
| reactome | R-HSA-2644606 | Constitutive Signaling by NOTCH1 PEST Domain Mutants |
| reactome | R-HSA-2682334 | EPH-Ephrin signaling |
| reactome | R-HSA-2894858 | Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer |
| reactome | R-HSA-2894862 | Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants |
| reactome | R-HSA-2979096 | NOTCH2 Activation and Transmission of Signal to the Nucleus |
| reactome | R-HSA-3928665 | EPH-ephrin mediated repulsion of cells |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-5663202 | Diseases of signal transduction |
| reactome | R-HSA-73887 | Death Receptor Signalling |
| reactome | R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases |
| reactome | R-HSA-9012852 | Signaling by NOTCH3 |
| reactome | R-HSA-9013507 | NOTCH3 Activation and Transmission of Signal to the Nucleus |
| reactome | R-HSA-9013694 | Signaling by NOTCH4 |
| reactome | R-HSA-9013700 | NOTCH4 Activation and Transmission of Signal to the Nucleus |
| reactome | R-HSA-9017802 | Noncanonical activation of NOTCH3 |
| wikipathways | WP2059 | Alzheimers Disease |
| wikipathways | WP268 | Notch Signaling Pathway |
| wikipathways | WP3845 | Canonical and Non-canonical Notch signaling |
| wikipathways | WP4242 | Notch Signaling Pathway |
| wikipathways | WP61 | Notch Signaling Pathway |
| pid | lkb1_pathway | LKB1 signaling events |
| kegg | hsa04330 | Notch signaling pathway - Homo sapiens (human) |
| kegg | hsa04722 | Neurotrophin signaling pathway - Homo sapiens (human) |
| kegg | hsa05010 | Alzheimer,s disease - Homo sapiens (human) |
| netpath | Pathway_Notch | Notch |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD150 | RITA | 3 |
| iGMDRD424 | Tamatinib | 1 |
| iGMDRD579 | PF750 | 3 |
| iGMDRD154 | NSC23766 | 6 |
| iGMDRD505 | Pevonedistat | 6 |
| iGMDRD123 | Isoevodiamine | 3 |
| iGMDRD280 | CYTOCHALASIN B | 3 |
| iGMDRD269 | Purmorphamine | 3 |
| iGMDRD286 | Nsc 632839 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PSEN2
CLASSFICATION
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