| URN | urn:agi-llid:5664 |
|---|---|
| Total Entities | 0 |
| Connectivity | 409 |
| Name | Psen2 |
| Description | presenilin 2 (Alzheimer disease 4) |
| Notes | 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] |
| GO Molecular Function | hydrolase activity |
|---|---|
| peptidase activity | |
| endopeptidase activity | |
| aspartic-type endopeptidase activity |
| GO Cellular Component | membrane |
|---|---|
| membrane raft | |
| integral component of membrane | |
| integral component of plasma membrane | |
| apical plasma membrane | |
| endoplasmic reticulum membrane | |
| Z disc | |
| ciliary rootlet | |
| ciliary basal body | |
| Golgi membrane | |
| lysosomal membrane | |
| nuclear inner membrane | |
| mitochondrial inner membrane | |
| kinetochore | |
| centrosome | |
| protein complex | |
| cell surface | |
| plasma membrane | |
| Golgi apparatus | |
| cell cortex | |
| cytosol | |
| perinuclear region of cytoplasm | |
| endoplasmic reticulum | |
| nucleus | |
| growth cone | |
| dendritic shaft | |
| axon | |
| neuronal cell body | |
| neuromuscular junction |
| GO Biological Process | locomotion |
|---|---|
| thymus development | |
| hematopoietic progenitor cell differentiation | |
| myeloid leukocyte differentiation | |
| T cell receptor signaling pathway | |
| T cell activation involved in immune response | |
| somitogenesis | |
| dorsal-ventral neural tube patterning | |
| positive regulation of coagulation | |
| learning or memory | |
| memory | |
| cardiac muscle contraction | |
| embryo development | |
| brain morphogenesis | |
| skin morphogenesis | |
| forebrain development | |
| hair follicle development | |
| anagen | |
| lung alveolus development | |
| embryonic limb morphogenesis | |
| cell fate specification | |
| intracellular signal transduction | |
| apoptotic signaling pathway | |
| negative regulation of epidermal growth factor-activated receptor activity | |
| regulation of epidermal growth factor-activated receptor activity | |
| negative regulation of apoptotic signaling pathway | |
| positive regulation of extrinsic apoptotic signaling pathway via death domain receptors | |
| negative regulation of extrinsic apoptotic signaling pathway via death domain receptors | |
| Notch signaling pathway | |
| neurotrophin TRK receptor signaling pathway | |
| regulation of synaptic plasticity | |
| endoplasmic reticulum calcium ion homeostasis | |
| positive regulation of apoptotic process | |
| negative regulation of apoptotic process | |
| calcium ion transport | |
| positive regulation of receptor recycling | |
| response to hypoxia | |
| positive regulation of proteasomal ubiquitin-dependent protein catabolic process | |
| negative regulation of protein complex assembly | |
| negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process | |
| negative regulation of transcription from RNA polymerase II promoter | |
| negative regulation of protein phosphorylation | |
| negative regulation of ubiquitin-protein ligase activity | |
| positive regulation of catalytic activity | |
| beta-amyloid metabolic process | |
| cellular protein metabolic process | |
| Notch receptor processing | |
| protein maturation | |
| protein processing | |
| proteolysis | |
| membrane protein intracellular domain proteolysis | |
| membrane protein ectodomain proteolysis | |
| amyloid precursor protein catabolic process | |
| protein transport | |
| negative regulation of protein binding | |
| regulation of protein binding |
| Pathway | Proteins Involved in Pathogenesis of Alzheimer's Disease |
|---|---|
| APP Processing | |
| Alzheimer disease pathway | |
| Alzheimer disease pathway | |
| Alzheimer disease pathway - Copy | |
| Copy of 'Alzheimer disease pathway' |
| Group | locomotion |
|---|---|
| thymus development | |
| hematopoietic progenitor cell differentiation | |
| myeloid leukocyte differentiation | |
| T cell receptor signaling pathway | |
| T cell activation involved in immune response | |
| somitogenesis | |
| dorsal-ventral neural tube patterning | |
| positive regulation of coagulation | |
| learning or memory | |
| memory | |
| cardiac muscle contraction | |
| embryo development | |
| brain morphogenesis | |
| skin morphogenesis | |
| forebrain development | |
| hair follicle development | |
| anagen | |
| lung alveolus development | |
| embryonic limb morphogenesis | |
| cell fate specification | |
| intracellular signal transduction | |
| apoptotic signaling pathway | |
| negative regulation of epidermal growth factor-activated receptor activity | |
| regulation of epidermal growth factor-activated receptor activity | |
| negative regulation of apoptotic signaling pathway | |
| positive regulation of extrinsic apoptotic signaling pathway via death domain receptors | |
| negative regulation of extrinsic apoptotic signaling pathway via death domain receptors | |
| Notch signaling pathway | |
| neurotrophin TRK receptor signaling pathway | |
| regulation of synaptic plasticity | |
| endoplasmic reticulum calcium ion homeostasis | |
| positive regulation of apoptotic process | |
| negative regulation of apoptotic process | |
| calcium ion transport | |
| positive regulation of receptor recycling | |
| response to hypoxia | |
| positive regulation of proteasomal ubiquitin-dependent protein catabolic process | |
| negative regulation of protein complex assembly | |
| negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process | |
| negative regulation of transcription from RNA polymerase II promoter | |
| negative regulation of protein phosphorylation | |
| negative regulation of ubiquitin-protein ligase activity | |
| positive regulation of catalytic activity | |
| hydrolase activity | |
| peptidase activity | |
| endopeptidase activity | |
| aspartic-type endopeptidase activity | |
| beta-amyloid metabolic process | |
| cellular protein metabolic process | |
| Notch receptor processing | |
| protein maturation | |
| protein processing | |
| proteolysis | |
| membrane protein intracellular domain proteolysis | |
| membrane protein ectodomain proteolysis | |
| amyloid precursor protein catabolic process | |
| protein transport | |
| negative regulation of protein binding | |
| regulation of protein binding | |
| membrane | |
| membrane raft | |
| integral component of membrane | |
| integral component of plasma membrane | |
| apical plasma membrane | |
| endoplasmic reticulum membrane | |
| Z disc | |
| ciliary rootlet | |
| ciliary basal body | |
| Golgi membrane | |
| lysosomal membrane | |
| nuclear inner membrane | |
| mitochondrial inner membrane | |
| kinetochore | |
| centrosome | |
| protein complex | |
| cell surface | |
| plasma membrane | |
| Golgi apparatus | |
| cell cortex | |
| cytosol | |
| perinuclear region of cytoplasm | |
| endoplasmic reticulum | |
| nucleus | |
| growth cone | |
| dendritic shaft | |
| axon | |
| neuronal cell body | |
| neuromuscular junction | |
| Genes with Mutations Associated with Alzheimer's Disease | |
| Secreted proteins |
| LocusLink ID | 5664 |
|---|---|
| 19165 | |
| 81751 |
| Cell Localization | Endoplasmic reticulum membrane |
|---|---|
| Golgi apparatus membrane |
| GO ID | 0004190 |
|---|---|
| 0004175 | |
| 0007220 | |
| 0007219 | |
| 0002286 | |
| 0050852 | |
| 0042987 | |
| 0042640 | |
| 0097190 | |
| 0050435 | |
| 0048854 | |
| 0006816 | |
| 0060048 | |
| 0001708 | |
| 0021904 | |
| 0030326 | |
| 0032469 | |
| 0030900 | |
| 0002244 | |
| 0035556 | |
| 0040011 | |
| 0048286 | |
| 0006509 | |
| 0031293 | |
| 0007613 | |
| 0002573 | |
| 0043066 | |
| 0001933 | |
| 0048011 | |
| 0043065 | |
| 0043085 | |
| 0050820 | |
| 0016485 | |
| 0015031 | |
| 0007176 | |
| 0043393 | |
| 0048167 | |
| 0001666 | |
| 0001756 | |
| 0048538 | |
| 0005794 | |
| 0000139 | |
| 0030018 | |
| 0016324 | |
| 0030424 | |
| 0005938 | |
| 0009986 | |
| 0005813 | |
| 0035253 | |
| 0005829 | |
| 0043198 | |
| 0005783 | |
| 0005789 | |
| 0030426 | |
| 0005887 | |
| 0000776 | |
| 0005765 | |
| 0045121 | |
| 0005743 | |
| 0031594 | |
| 0043025 | |
| 0005637 | |
| 0048471 | |
| 0005886 | |
| 0043234 | |
| 0016787 | |
| 0008233 | |
| 0044267 | |
| 0009790 | |
| 0001942 | |
| 0007611 | |
| 2001234 | |
| 0007175 | |
| 1902042 | |
| 0032091 | |
| 0031333 | |
| 2000059 | |
| 0000122 | |
| 0051444 | |
| 1902043 | |
| 0032436 | |
| 0001921 | |
| 0051604 | |
| 0006508 | |
| 0043589 | |
| 0036064 | |
| 0016021 | |
| 0016020 | |
| 0005634 |
| Alias | AD4 |
|---|---|
| PS2 | |
| AD3L | |
| STM2 | |
| CMD1V | |
| presenilin-2 | |
| AD5 | |
| E5-1 | |
| PS-2 | |
| AD3LP | |
| STM-2 | |
| Ad4h | |
| Alg3 | |
| ALG-3 | |
| Psnl2 | |
| presenilin 2 isoform I | |
| presenilin 2 | |
| presenilin 2 (Alzheimer disease 4) | |
| presenilin 2 isoform 1 | |
| OTTMUSP00000023895 | |
| presenilin 2 isoform 2 | |
| presenilin II | |
| OTTMUSP00000023894 | |
| Psen2 | |
| AD4-H | |
| OTTMUSP00000023893 | |
| AD(4)H | |
| AD-4H | |
| AI266870 | |
| Alzheimer disease 4 | |
| Alzheimer's disease 4 | |
| OTTHUMP00000035671 | |
| OTTHUMP00000035672 | |
| OTTMUSP00000023891 | |
| OTTMUSP00000023892 |
| Mouse chromosome position | 1 84.19 cM |
|---|
| OMIM ID | 600759 |
|---|---|
| 606889 | |
| 613697 |
| Rat chromosome position | 13q26 |
|---|
| Hugo ID | 9509 |
|---|
| Human chromosome position | 1q31-q42 |
|---|
| Swiss-Prot Accession | P49810 |
|---|---|
| Q3U4P5 | |
| Q61144 | |
| O88777 | |
| O54977 | |
| P97934 | |
| P97935 | |
| Q91VS3 | |
| Q9D616 | |
| O08947 | |
| O35546 | |
| A8K8D4 | |
| B1AP21 | |
| Q96P32 |
| PIR ID | A56993 |
|---|---|
| I39174 |
| Unigene ID | Hs.25363 |
|---|---|
| Mm.330850 | |
| Rn.11045 |
| KEGG ID | hsa:5664 |
|---|---|
| mmu:19165 | |
| rno:81751 |
| Swiss-Prot ID | PSN2_MOUSE |
|---|---|
| PSN2_RAT | |
| PSN2_HUMAN |
| EC Number | 3.4.23.- |
|---|
| Ensembl ID | ENSG00000143801 |
|---|---|
| ENSP00000355747 | |
| ENST00000366783 | |
| ENSP00000403737 | |
| ENST00000422240 | |
| ENSP00000375745 | |
| ENST00000391872 | |
| ENSMUSG00000010609 | |
| ENSMUSP00000106737 | |
| ENSMUST00000111108 | |
| ENSMUSP00000010753 | |
| ENSMUST00000010753 | |
| ENSRNOG00000002879 | |
| ENSRNOP00000049605 | |
| ENSRNOT00000040203 |
| Homologene ID | 386 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 109284 |
|---|
| RGD ID | 621060 |
|---|
| MedScan ID | 5664 |
|---|