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MGI:Psen2
Contents |
| Species (Taxon ID) | Mus musculus (house mouse) (taxon:10090) | |
| Gene Name(s) | Psen2 ( synonyms: Ad4h, ALG-3, PS-2, PS2 ) | |
| Protein Name(s) | presenilin 2, | |
| External Links | ||
| MGI | MGI:109284 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0000122 |
negative regulation of transcription from RNA polymerase II promoter |
MGI:MGI:4887523 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0000776 |
kinetochore |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0001708 |
cell fate specification |
MGI:MGI:3513219 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0001756 |
somitogenesis |
MGI:MGI:1347695 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0001921 |
positive regulation of receptor recycling |
MGI:MGI:4887523 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0001933 |
negative regulation of protein phosphorylation |
MGI:MGI:3044464 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0001942 |
hair follicle development |
MGI:MGI:1347695 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0002244 |
hemopoietic progenitor cell differentiation |
MGI:MGI:3691764 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0002286 |
T cell activation involved in immune response |
MGI:MGI:3760494 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0002573 |
myeloid leukocyte differentiation |
MGI:MGI:3691764 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0004175 |
endopeptidase activity |
MGI:MGI:2665226 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1930939 |
F |
From MGI |
||
| GO:0004175 |
endopeptidase activity |
MGI:MGI:3714214 |
IMP: Inferred from Mutant Phenotype |
F |
From MGI |
|||
| GO:0004175 |
endopeptidase activity |
MGI:MGI:3762423 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
F |
From MGI |
||
| GO:0004190 |
aspartic-type endopeptidase activity |
MGI:MGI:2152098 |
IEA: Inferred from Electronic Annotation |
F |
From MGI |
|||
| GO:0005515 |
protein binding |
MGI:MGI:2154646 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
|||
| GO:0005515 |
protein binding |
MGI:MGI:3055708 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
|||
| GO:0005515 |
protein binding |
MGI:MGI:3612568 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
|||
| GO:0005622 |
intracellular |
MGI:MGI:2152098 |
IEA: Inferred from Electronic Annotation |
C |
From MGI |
|||
| GO:0005624 |
membrane fraction |
MGI:MGI:1202047 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005624 |
membrane fraction |
MGI:MGI:2665226 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005624 |
membrane fraction |
MGI:MGI:3055708 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005624 |
membrane fraction |
MGI:MGI:3589713 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005634 |
nucleus |
MGI:MGI:4459044 |
PANTHER:PTHR10202 |
C |
From MGI |
|||
| GO:0005637 |
nuclear inner membrane |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005743 |
mitochondrial inner membrane |
MGI:MGI:4459044 |
PANTHER:PTHR10202 |
C |
From MGI |
|||
| GO:0005765 |
lysosomal membrane |
MGI:MGI:4459044 |
PANTHER:PTHR10202 |
C |
From MGI |
|||
| GO:0005783 |
endoplasmic reticulum |
MGI:MGI:2387342 |
TAS: Traceable Author Statement |
C |
From MGI |
|||
| GO:0005783 |
endoplasmic reticulum |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005794 |
Golgi apparatus |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005813 |
centrosome |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005829 |
cytosol |
MGI:MGI:1202047 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005887 |
integral to plasma membrane |
MGI:MGI:4459044 |
PANTHER:PTHR10202 |
C |
From MGI |
|||
| GO:0005887 |
integral to plasma membrane |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005938 |
cell cortex |
MGI:MGI:4459044 |
PANTHER:PTHR10202 |
C |
From MGI |
|||
| GO:0006508 |
proteolysis |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0645 |
P |
From MGI |
||
| GO:0006509 |
membrane protein ectodomain proteolysis |
MGI:MGI:4459044 |
PANTHER:PTHR10202 |
P |
From MGI |
|||
| GO:0006509 |
membrane protein ectodomain proteolysis |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0006816 |
calcium ion transport |
MGI:MGI:3612568 |
IPI: Inferred from Physical Interaction |
P |
From MGI |
|||
| GO:0006915 |
apoptotic process |
MGI:MGI:1099227 |
IDA: Inferred from Direct Assay |
P |
From MGI |
|||
| GO:0006915 |
apoptotic process |
MGI:MGI:3044464 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0006915 |
apoptotic process |
MGI:MGI:84500 |
IDA: Inferred from Direct Assay |
P |
From MGI |
|||
| GO:0006916 |
anti-apoptosis |
MGI:MGI:4459044 |
PANTHER:PTHR10202 |
P |
From MGI |
|||
| GO:0007175 |
negative regulation of epidermal growth factor-activated receptor activity |
MGI:MGI:4887523 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0007176 |
regulation of epidermal growth factor-activated receptor activity |
MGI:MGI:3714214 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0007219 |
Notch signaling pathway |
MGI:MGI:3760494 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0007220 |
Notch receptor processing |
MGI:MGI:4459044 |
PANTHER:PTHR10202 |
P |
From MGI |
|||
| GO:0007611 |
learning or memory |
MGI:MGI:3041370 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0007613 |
memory |
MGI:MGI:3044464 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0007613 |
memory |
MGI:MGI:3760209 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0008233 |
peptidase activity |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0645 |
F |
From MGI |
||
| GO:0009790 |
embryo development |
MGI:MGI:1346745 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0009790 |
embryo development |
MGI:MGI:1347695 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0009986 |
cell surface |
MGI:MGI:4459044 |
PANTHER:PTHR10202 |
C |
From MGI |
|||
| GO:0015031 |
protein transport |
MGI:MGI:2180437 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0016020 |
membrane |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0472 |
C |
From MGI |
||
| GO:0016020 |
membrane |
MGI:MGI:2152098 |
IEA: Inferred from Electronic Annotation |
C |
From MGI |
|||
| GO:0016021 |
integral to membrane |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0812 |
C |
From MGI |
||
| GO:0016021 |
integral to membrane |
MGI:MGI:2152098 |
IEA: Inferred from Electronic Annotation |
C |
From MGI |
|||
| GO:0016324 |
apical plasma membrane |
MGI:MGI:4459044 |
PANTHER:PTHR10202 |
C |
From MGI |
|||
| GO:0016485 |
protein processing |
MGI:MGI:3051716 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0016485 |
protein processing |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0016787 |
hydrolase activity |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0378 |
F |
From MGI |
||
| GO:0021904 |
dorsal/ventral neural tube patterning |
MGI:MGI:1347695 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0030018 |
Z disc |
MGI:MGI:3612568 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0030326 |
embryonic limb morphogenesis |
MGI:MGI:3610505 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0030424 |
axon |
MGI:MGI:4459044 |
PANTHER:PTHR10202 |
C |
From MGI |
|||
| GO:0030426 |
growth cone |
MGI:MGI:4459044 |
PANTHER:PTHR10202 |
C |
From MGI |
|||
| GO:0030900 |
forebrain development |
MGI:MGI:3044464 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0031594 |
neuromuscular junction |
MGI:MGI:4459044 |
PANTHER:PTHR10202 |
C |
From MGI |
|||
| GO:0032436 |
positive regulation of proteasomal ubiquitin-dependent protein catabolic process |
MGI:MGI:4887523 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0032469 |
endoplasmic reticulum calcium ion homeostasis |
MGI:MGI:3758537 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0035253 |
ciliary rootlet |
MGI:MGI:4459044 |
PANTHER:PTHR10202 |
C |
From MGI |
|||
| GO:0035556 |
intracellular signal transduction |
MGI:MGI:2152098 |
IEA: Inferred from Electronic Annotation |
P |
From MGI |
|||
| GO:0040011 |
locomotion |
MGI:MGI:3044464 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0042640 |
anagen |
MGI:MGI:3513219 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0042987 |
amyloid precursor protein catabolic process |
MGI:MGI:4459044 |
PANTHER:PTHR10202 |
P |
From MGI |
|||
| GO:0043025 |
neuronal cell body |
MGI:MGI:892709 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0043065 |
positive regulation of apoptotic process |
MGI:MGI:3610505 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0043066 |
negative regulation of apoptotic process |
MGI:MGI:1099227 |
IDA: Inferred from Direct Assay |
P |
From MGI |
|||
| GO:0043066 |
negative regulation of apoptotic process |
MGI:MGI:1099227 |
IGI: Inferred from Genetic Interaction |
P |
From MGI |
|||
| GO:0043085 |
positive regulation of catalytic activity |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0043198 |
dendritic shaft |
MGI:MGI:4459044 |
PANTHER:PTHR10202 |
C |
From MGI |
|||
| GO:0043234 |
protein complex |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0043393 |
regulation of protein binding |
MGI:MGI:3762423 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0043589 |
skin morphogenesis |
MGI:MGI:4887523 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0044267 |
cellular protein metabolic process |
MGI:MGI:3694620 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0045121 |
membrane raft |
MGI:MGI:4459044 |
PANTHER:PTHR10202 |
C |
From MGI |
|||
| GO:0048167 |
regulation of synaptic plasticity |
MGI:MGI:3041370 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0048286 |
lung alveolus development |
MGI:MGI:1346745 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2149117 |
P |
From MGI |
||
| GO:0048471 |
perinuclear region of cytoplasm |
MGI:MGI:4459044 |
PANTHER:PTHR10202 |
C |
From MGI |
|||
| GO:0048538 |
thymus development |
MGI:MGI:3760494 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0048854 |
brain morphogenesis |
MGI:MGI:3760209 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0050435 |
beta-amyloid metabolic process |
MGI:MGI:1889433 |
IDA: Inferred from Direct Assay |
P |
From MGI |
|||
| GO:0050435 |
beta-amyloid metabolic process |
MGI:MGI:2665226 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1930939 |
P |
From MGI |
||
| GO:0050820 |
positive regulation of coagulation |
MGI:MGI:2662800 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2664242 |
P |
From MGI |
||
| GO:0050852 |
T cell receptor signaling pathway |
MGI:MGI:3760494 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0051444 |
negative regulation of ubiquitin-protein ligase activity |
MGI:MGI:4887523 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0051604 |
protein maturation |
MGI:MGI:2180437 |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1202717 |
P |
From MGI |
||
| GO:0060048 |
cardiac muscle contraction |
MGI:MGI:3612568 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1930939 |
P |
From MGI |
||
| GO:2000059 |
negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process |
MGI:MGI:4887523 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
| ||
| edit table |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 Rocher-Ros V et al. (2010) Presenilin modulates EGFR signaling and cell transformation by regulating the ubiquitin ligase Fbw7. Oncogene 29: 2950-61 PubMed GONUTS page
- ↑ 2.0 2.1 Pan Y et al. (2004) gamma-secretase functions through Notch signaling to maintain skin appendages but is not required for their patterning or initial morphogenesis. Dev Cell 7: 731-43 PubMed GONUTS page
- ↑ 3.0 3.1 3.2 3.3 Donoviel DB et al. (1999) Mice lacking both presenilin genes exhibit early embryonic patterning defects. Genes Dev 13: 2801-10 PubMed GONUTS page
- ↑ 4.0 4.1 4.2 4.3 4.4 Feng R et al. (2004) Forebrain degeneration and ventricle enlargement caused by double knockout of Alzheimer's presenilin-1 and presenilin-2. Proc Natl Acad Sci U S A 101: 8162-7 PubMed GONUTS page
- ↑ 5.0 5.1 Qyang Y et al. (2004) Myeloproliferative disease in mice with reduced presenilin gene dosage: effect of gamma-secretase blockage. Biochemistry 43: 5352-9 PubMed GONUTS page
- ↑ 6.0 6.1 6.2 6.3 Laky K & Fowlkes BJ (2007) Presenilins regulate alphabeta T cell development by modulating TCR signaling. J Exp Med 204: 2115-29 PubMed GONUTS page
- ↑ 7.0 7.1 7.2 Lai MT et al. (2003) Presenilin-1 and presenilin-2 exhibit distinct yet overlapping gamma-secretase activities. J Biol Chem 278: 22475-81 PubMed GONUTS page
- ↑ 8.0 8.1 Zhang YW et al. (2007) Presenilin/gamma-secretase-dependent processing of beta-amyloid precursor protein regulates EGF receptor expression. Proc Natl Acad Sci U S A 104: 10613-8 PubMed GONUTS page
- ↑ 9.0 9.1 Liu Q et al. (2007) Amyloid precursor protein regulates brain apolipoprotein E and cholesterol metabolism through lipoprotein receptor LRP1. Neuron 56: 66-78 PubMed GONUTS page
- ↑ Annaert WG et al. (2001) Interaction with telencephalin and the amyloid precursor protein predicts a ring structure for presenilins. Neuron 32: 579-89 PubMed GONUTS page
- ↑ 11.0 11.1 Hébert SS et al. (2004) Coordinated and widespread expression of gamma-secretase in vivo: evidence for size and molecular heterogeneity. Neurobiol Dis 17: 260-72 PubMed GONUTS page
- ↑ 12.0 12.1 12.2 12.3 Takeda T et al. (2005) Presenilin 2 regulates the systolic function of heart by modulating Ca2+ signaling. FASEB J 19: 2069-71 PubMed GONUTS page
- ↑ 13.0 13.1 Apert C et al. (1998) Profiles of amyloid precursor and presenilin 2-like proteins are correlated during development of the mouse hypothalamus. J Neuroendocrinol 10: 101-9 PubMed GONUTS page
- ↑ Vetrivel KS et al. (2005) Spatial segregation of gamma-secretase and substrates in distinct membrane domains. J Biol Chem 280: 25892-900 PubMed GONUTS page
- ↑ Kashiwa A et al. (2000) Isolation and characterization of novel presenilin binding protein. J Neurochem 75: 109-16 PubMed GONUTS page
- ↑ 16.0 16.1 16.2 Vito P et al. (1997) Generation of anti-apoptotic presenilin-2 polypeptides by alternative transcription, proteolysis, and caspase-3 cleavage. J Biol Chem 272: 28315-20 PubMed GONUTS page
- ↑ Vito P et al. (1996) Requirement of the familial Alzheimer's disease gene PS2 for apoptosis. Opposing effect of ALG-3. J Biol Chem 271: 31025-8 PubMed GONUTS page
- ↑ 18.0 18.1 Saura CA et al. (2004) Loss of presenilin function causes impairments of memory and synaptic plasticity followed by age-dependent neurodegeneration. Neuron 42: 23-36 PubMed GONUTS page
- ↑ 19.0 19.1 Dong S et al. (2007) Environment enrichment rescues the neurodegenerative phenotypes in presenilins-deficient mice. Eur J Neurosci 26: 101-12 PubMed GONUTS page
- ↑ 20.0 20.1 Herreman A et al. (1999) Presenilin 2 deficiency causes a mild pulmonary phenotype and no changes in amyloid precursor protein processing but enhances the embryonic lethal phenotype of presenilin 1 deficiency. Proc Natl Acad Sci U S A 96: 11872-7 PubMed GONUTS page
- ↑ 21.0 21.1 Leem JY et al. (2002) Presenilin 1 is required for maturation and cell surface accumulation of nicastrin. J Biol Chem 277: 19236-40 PubMed GONUTS page
- ↑ Gowrishankar K et al. (2004) Release of a membrane-bound death domain by gamma-secretase processing of the p75NTR homolog NRADD. J Cell Sci 117: 4099-111 PubMed GONUTS page
- ↑ 23.0 23.1 Pan Y et al. (2005) Notch1 and 2 cooperate in limb ectoderm to receive an early Jagged2 signal regulating interdigital apoptosis. Dev Biol 286: 472-82 PubMed GONUTS page
- ↑ Chan SL et al. (2002) Presenilin-1 mutations sensitize neurons to DNA damage-induced death by a mechanism involving perturbed calcium homeostasis and activation of calpains and caspase-12. Neurobiol Dis 11: 2-19 PubMed GONUTS page
- ↑ Blanchard V et al. (1997) Immunohistochemical analysis of presenilin 2 expression in the mouse brain: distribution pattern and co-localization with presenilin 1 protein. Brain Res 758: 209-17 PubMed GONUTS page
- ↑ Kim JS et al. (2006) Presenilin-1 inhibits delta-catenin-induced cellular branching and promotes delta-catenin processing and turnover. Biochem Biophys Res Commun 351: 903-8 PubMed GONUTS page
- ↑ Sawamura N et al. (2000) Mutant presenilin 2 transgenic mice. A large increase in the levels of Abeta 42 is presumably associated with the low density membrane domain that contains decreased levels of glycerophospholipids and sphingomyelin. J Biol Chem 275: 27901-8 PubMed GONUTS page
- ↑ Chen F et al. (2003) Presenilin 1 and presenilin 2 have differential effects on the stability and maturation of nicastrin in Mammalian brain. J Biol Chem 278: 19974-9 PubMed GONUTS page
