Version 5.4
Mus musculus Gene: Psen2
Summary
InnateDB Gene IDBG-207109.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Psen2
Gene Name presenilin 2
Synonyms Ad4h; ALG-3; Alg3; PS-2; PS2; Psnl2; STM2
Species Mus musculus
Ensembl Gene ENSMUSG00000010609
Encoded Proteins
IDBP-207111
presenilin 2
IDBP-258821
presenilin 2
IDBP-258823
presenilin 2
IDBP-258825
presenilin 2
IDBP-258827
presenilin 2
IDBP-540839
presenilin 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
PMID 26081153
Psen2 deficiency is paralleled by reduced transcription of Tlr4 mRNA and loss of LPS-induced Tlr4 mRNA transcription regulation.
Entrez Gene
Summary This gene encodes a member of the presenilin family. Presenilins are catalytic components of the multi-subunit gamma-secretase complex, which mediates critical cellular processes through cleavage of type I transmembrane proteins including Notch receptors and the amyloid precursor protein. The encoded protein contains eight transmembrane domains and is localized to the endoplasmic reticulum, where it may play a role in calcium homeostasis. Following assembly of the gamma-secretase complex, the encoded protein is cleaved into N- and C-terminal fragments and the activated complex is released from the endoplasmic reticulum. Inactivation of this gene results in impaired synaptic function in a mouse model for Alzheimer's disease. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2011]
This gene encodes a member of the presenilin family. Presenilins are catalytic components of the multi-subunit gamma-secretase complex, which mediates critical cellular processes through cleavage of type I transmembrane proteins including Notch receptors and the amyloid precursor protein. The encoded protein contains eight transmembrane domains and is localized to the endoplasmic reticulum, where it may play a role in calcium homeostasis. Following assembly of the gamma-secretase complex, the encoded protein is cleaved into N- and C-terminal fragments and the activated complex is released from the endoplasmic reticulum. Inactivation of this gene results in impaired synaptic function in a mouse model for Alzheimer\'s disease. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:180227004-180263438
Strand Reverse strand
Band H4
Transcripts
ENSMUST00000010753 ENSMUSP00000010753
ENSMUST00000111108 ENSMUSP00000106737
ENSMUST00000111106 ENSMUSP00000106735
ENSMUST00000111105 ENSMUSP00000106734
ENSMUST00000111104 ENSMUSP00000106733
ENSMUST00000130711
ENSMUST00000136291
ENSMUST00000130029
ENSMUST00000149590
ENSMUST00000128223
ENSMUST00000133340 ENSMUSP00000120216
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 48 interaction(s) predicted by orthology.
Experimentally validated
Total 12 [view]
Protein-Protein 12 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 48 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004175 endopeptidase activity
GO:0004190 aspartic-type endopeptidase activity
GO:0005515 protein binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001666 response to hypoxia
GO:0001708 cell fate specification
GO:0001756 somitogenesis
GO:0001921 positive regulation of receptor recycling
GO:0001933 negative regulation of protein phosphorylation
GO:0001942 hair follicle development
GO:0002244 hematopoietic progenitor cell differentiation
GO:0002286 T cell activation involved in immune response
GO:0002573 myeloid leukocyte differentiation
GO:0006509 membrane protein ectodomain proteolysis
GO:0006816 calcium ion transport
GO:0007175 negative regulation of epidermal growth factor-activated receptor activity
GO:0007176 regulation of epidermal growth factor-activated receptor activity
GO:0007219 Notch signaling pathway
GO:0007220 Notch receptor processing
GO:0007611 learning or memory
GO:0007613 memory
GO:0015031 protein transport
GO:0016485 protein processing
GO:0021904 dorsal/ventral neural tube patterning
GO:0030326 embryonic limb morphogenesis
GO:0030900 forebrain development
GO:0031333 negative regulation of protein complex assembly
GO:0032091 negative regulation of protein binding
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0032469 endoplasmic reticulum calcium ion homeostasis
GO:0035556 intracellular signal transduction
GO:0040011 locomotion
GO:0042640 anagen
GO:0042987 amyloid precursor protein catabolic process
GO:0043065 positive regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0043085 positive regulation of catalytic activity
GO:0043393 regulation of protein binding
GO:0043589 skin morphogenesis
GO:0044267 cellular protein metabolic process
GO:0045087 innate immune response (InnateDB)
GO:0048167 regulation of synaptic plasticity
GO:0048286 lung alveolus development
GO:0048538 thymus development
GO:0048854 brain morphogenesis
GO:0050435 beta-amyloid metabolic process
GO:0050820 positive regulation of coagulation
GO:0050852 T cell receptor signaling pathway
GO:0051444 negative regulation of ubiquitin-protein transferase activity
GO:0051604 protein maturation
GO:0060048 cardiac muscle contraction
GO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:1902043 positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:2000059 negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
GO:2001234 negative regulation of apoptotic signaling pathway
Cellular Component
GO:0000139 Golgi membrane
GO:0000776 kinetochore
GO:0005634 nucleus
GO:0005637 nuclear inner membrane
GO:0005743 mitochondrial inner membrane
GO:0005765 lysosomal membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005938 cell cortex
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0030018 Z disc
GO:0030424 axon
GO:0030426 growth cone
GO:0031594 neuromuscular junction
GO:0035253 ciliary rootlet
GO:0036064 ciliary basal body
GO:0043025 neuronal cell body
GO:0043198 dendritic shaft
GO:0043234 protein complex
GO:0045121 membrane raft
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000143801
View Gene Order
ENSBTAG00000013197
Not yet available
Pathways
NETPATH
REACTOME
REACT_198574
Nuclear signaling by ERBB4 pathway
REACT_189085
Disease pathway
REACT_188579
Signaling by ERBB4 pathway
REACT_196589
Constitutive Signaling by NOTCH1 PEST Domain Mutants pathway
REACT_204413
Cell death signalling via NRAGE, NRIF and NADE pathway
REACT_243590
EPH-ephrin mediated repulsion of cells pathway
REACT_199382
Signaling by NOTCH1 pathway
REACT_199384
Activated NOTCH1 Transmits Signal to the Nucleus pathway
REACT_199412
Signaling by NOTCH2 pathway
REACT_199413
Signaling by NOTCH3 pathway
REACT_199410
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant pathway
REACT_199411
NOTCH2 Activation and Transmission of Signal to the Nucleus pathway
REACT_258158
EPH-Ephrin signaling pathway
REACT_199405
Signaling by NOTCH1 in Cancer pathway
REACT_199404
Signaling by NOTCH4 pathway
REACT_199407
Signaling by NOTCH1 HD Domain Mutants in Cancer pathway
REACT_199406
Signaling by NOTCH1 PEST Domain Mutants in Cancer pathway
REACT_199409
FBXW7 Mutants and NOTCH1 in Cancer pathway
REACT_199408
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer pathway
REACT_261444
Axon guidance pathway
REACT_248921
Signalling by NGF pathway
REACT_188576
Developmental Biology pathway
REACT_218614
Regulated proteolysis of p75NTR pathway
REACT_188257
Signal Transduction pathway
REACT_210847
p75 NTR receptor-mediated signalling pathway
REACT_202271
NRIF signals cell death from the nucleus pathway
REACT_231152
Signaling by NOTCH pathway
REACT_196591
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants pathway
KEGG
mmu04330
Notch signaling pathway pathway
mmu05010
Alzheimer's disease pathway
mmu04722
Neurotrophin signaling pathway pathway
INOH
INOH website
Notch signaling pathway pathway
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
NetPath_3
Notch pathway
REACTOME
REACT_13443
Regulated proteolysis of p75NTR pathway
REACT_13643
NRIF signals cell death from the nucleus pathway
REACT_116022
Nuclear signaling by ERBB4 pathway
REACT_115596
Signaling by ERBB4 pathway
REACT_118614
Activated NOTCH1 Transmits Signal to the Nucleus pathway
REACT_118636
Signaling by NOTCH4 pathway
REACT_118862
Signaling by NOTCH3 pathway
REACT_160205
NOTCH2 Activation and Transmission of Signal to the Nucleus pathway
REACT_160243
Constitutive Signaling by NOTCH1 PEST Domain Mutants pathway
REACT_160254
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants pathway
REACT_111045
Developmental Biology pathway
REACT_11061
Signalling by NGF pathway
REACT_160082
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant pathway
REACT_160214
Signaling by NOTCH1 in Cancer pathway
REACT_18266
Axon guidance pathway
REACT_13776
p75 NTR receptor-mediated signalling pathway
REACT_160099
FBXW7 Mutants and NOTCH1 in Cancer pathway
REACT_111102
Signal Transduction pathway
REACT_118721
Signaling by NOTCH2 pathway
REACT_160301
Signaling by NOTCH1 PEST Domain Mutants in Cancer pathway
REACT_160248
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer pathway
REACT_299
Signaling by NOTCH pathway
REACT_13720
Cell death signalling via NRAGE, NRIF and NADE pathway
REACT_228189
EPH-ephrin mediated repulsion of cells pathway
REACT_118859
Signaling by NOTCH1 pathway
REACT_160133
Signaling by NOTCH1 HD Domain Mutants in Cancer pathway
REACT_228170
EPH-Ephrin signaling pathway
REACT_116125
Disease pathway
REACT_221284
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant pathway
REACT_227813
Activated NOTCH1 Transmits Signal to the Nucleus pathway
REACT_220704
Signaling by NOTCH pathway
REACT_213874
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer pathway
REACT_216183
Signaling by ERBB4 pathway
REACT_221028
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants pathway
REACT_226623
NRIF signals cell death from the nucleus pathway
REACT_211402
Cell death signalling via NRAGE, NRIF and NADE pathway
REACT_225696
NOTCH2 Activation and Transmission of Signal to the Nucleus pathway
REACT_248222
EPH-Ephrin signaling pathway
REACT_221597
Signaling by NOTCH3 pathway
REACT_204419
Signaling by NOTCH1 in Cancer pathway
REACT_214353
Signal Transduction pathway
REACT_225370
Constitutive Signaling by NOTCH1 PEST Domain Mutants pathway
REACT_203140
Axon guidance pathway
REACT_225877
Signaling by NOTCH1 pathway
REACT_246661
EPH-ephrin mediated repulsion of cells pathway
REACT_207066
Signalling by NGF pathway
REACT_227790
Regulated proteolysis of p75NTR pathway
REACT_227244
Signaling by NOTCH1 PEST Domain Mutants in Cancer pathway
REACT_220466
Signaling by NOTCH4 pathway
REACT_225248
FBXW7 Mutants and NOTCH1 in Cancer pathway
REACT_218183
p75 NTR receptor-mediated signalling pathway
REACT_220588
Nuclear signaling by ERBB4 pathway
REACT_204471
Signaling by NOTCH1 HD Domain Mutants in Cancer pathway
REACT_215347
Signaling by NOTCH2 pathway
REACT_207087
Disease pathway
REACT_220844
Developmental Biology pathway
KEGG
hsa04330
Notch signaling pathway pathway
hsa05010
Alzheimer's disease pathway
hsa04722
Neurotrophin signaling pathway pathway
INOH
INOH website
Notch signaling pathway pathway
PID NCI
lkb1_pathway
LKB1 signaling events
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.330850 Mm.406184
RefSeq NM_001128605 NM_011183 XM_006496712
OMIM
CCDS CCDS15567
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca