Psen2 presenilin 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Psen2provided by MGI
Official Full Name: presenilin 2provided by MGI
Primary source: MGI:MGI:109284
See related: Ensembl:ENSMUSG00000010609 AllianceGenome:MGI:109284
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: PS2; Ad4h; Alg3; PS-2; STM2; ALG-3; Psnl2
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]
Expression: Broad expression in liver adult (RPKM 102.7), ovary adult (RPKM 40.1) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 H4; 1 84.19 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (180054569..180091030, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (180227004..180263467, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Presenilin Deficiency Results in Cellular Cholesterol Accumulation by Impairment of Protein Glycosylation and NPC1 Function.
Title: Presenilin Deficiency Results in Cellular Cholesterol Accumulation by Impairment of Protein Glycosylation and NPC1 Function.
Presenilin-2 knock-In mice show severe depressive behavior via DVL3 downregulation.
Title: Presenilin-2 knock-In mice show severe depressive behavior via DVL3 downregulation.
Circadian rhythm sleep disorders and time-of-day-dependent memory deficiency in Presenilin1/2 conditional knockout mice with long noncoding RNA expression profiling changes.
Title: Circadian rhythm sleep disorders and time-of-day-dependent memory deficiency in Presenilin1/2 conditional knockout mice with long noncoding RNA expression profiling changes.
Transmembrane BAX inhibitor motif containing 6 suppresses presenilin-2 to preserve mitochondrial integrity after myocardial ischemia-reperfusion injury.
Title: Transmembrane BAX inhibitor motif containing 6 suppresses presenilin-2 to preserve mitochondrial integrity after myocardial ischemia-reperfusion injury.
Chronic seizures induce sex-specific cognitive deficits with loss of presenilin 2 function.
Title: Chronic seizures induce sex-specific cognitive deficits with loss of presenilin 2 function.
Presenilin 2 N141I mutation induces hyperactive immune response through the epigenetic repression of REV-ERBalpha.
Title: Presenilin 2 N141I mutation induces hyperactive immune response through the epigenetic repression of REV-ERBα.
Exercise Reverses Amyloid beta-Peptide-Mediated Cognitive Deficits in Alzheimer's Disease Mice Expressing Mutant Presenilin-2.
Title: Exercise Reverses Amyloid β-Peptide-Mediated Cognitive Deficits in Alzheimer's Disease Mice Expressing Mutant Presenilin-2.
Neuron-specific deletion of presenilin enhancer2 causes progressive astrogliosis and age-related neurodegeneration in the cortex independent of the Notch signaling.
Title: Neuron-specific deletion of presenilin enhancer2 causes progressive astrogliosis and age-related neurodegeneration in the cortex independent of the Notch signaling.
Calcium Signaling and Mitochondrial Function in Presenilin 2 Knock-Out Mice: Looking for Any Loss-of-Function Phenotype Related to Alzheimer's Disease.
Title: Calcium Signaling and Mitochondrial Function in Presenilin 2 Knock-Out Mice: Looking for Any Loss-of-Function Phenotype Related to Alzheimer's Disease.
Loss of presenilin 2 age-dependently alters susceptibility to acute seizures and kindling acquisition.
Title: Loss of presenilin 2 age-dependently alters susceptibility to acute seizures and kindling acquisition.

Submit: New GeneRIF Correction See all GeneRIFs (86)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1)
Endonuclease-mediated (2)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Psen2 (e-PCR), detects polymorphism
- UniSTS:259649

AI266870 (e-PCR)
- UniSTS:178530

PMC317124P1 (e-PCR)
- UniSTS:273072

PMC317124P2 (e-PCR)
- UniSTS:273073

PMC317124P3 (e-PCR)
- UniSTS:273074

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables aspartic endopeptidase activity, intramembrane cleaving	IBA Inferred from Biological aspect of Ancestor more info
enables aspartic endopeptidase activity, intramembrane cleaving	IGI Inferred from Genetic Interaction more info	PubMed
enables aspartic endopeptidase activity, intramembrane cleaving	IMP Inferred from Mutant Phenotype more info	PubMed
enables endopeptidase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables endopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within Notch signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within T cell activation involved in immune response	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within T cell receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in amyloid precursor protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in amyloid precursor protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in amyloid-beta formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in amyloid-beta formation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within amyloid-beta metabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within amyloid-beta metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within anagen	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of apoptotic signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within brain morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within calcium ion transport	IPI Inferred from Physical Interaction more info	PubMed
acts_upstream_of_or_within cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell fate specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within dorsal/ventral neural tube patterning	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryo development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic limb morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within endoplasmic reticulum calcium ion homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within forebrain development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within hair follicle development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within hematopoietic progenitor cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within interleukin-6 production	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within interleukin-6 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within learning or memory	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within locomotion	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within lung alveolus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within macrophage cytokine production	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within macrophage cytokine production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane protein ectodomain proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in membrane protein ectodomain proteolysis	ISO Inferred from Sequence Orthology more info
involved_in membrane protein ectodomain proteolysis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within memory	IGI Inferred from Genetic Interaction more info	PubMed
involved_in mitochondrion-endoplasmic reticulum membrane tethering	ISO Inferred from Sequence Orthology more info
involved_in mitochondrion-endoplasmic reticulum membrane tethering	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within myeloid leukocyte differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of apoptotic signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of epidermal growth factor-activated receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of protein phosphorylation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of ubiquitin-protein transferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuroinflammatory response	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuroinflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron cellular homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of coagulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of extrinsic apoptotic signaling pathway via death domain receptors	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of receptor recycling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein catabolic process at postsynapse	IDA Inferred from Direct Assay more info	PubMed
involved_in protein catabolic process at postsynapse	IEP Inferred from Expression Pattern more info	PubMed
involved_in protein catabolic process at postsynapse	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein maturation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within protein metabolic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein processing	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein processing	ISO Inferred from Sequence Orthology more info
involved_in protein processing	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within protein transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of calcium import into the mitochondrion	ISO Inferred from Sequence Orthology more info
involved_in regulation of calcium import into the mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of epidermal growth factor-activated receptor activity	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of postsynapse organization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynapse organization	IEP Inferred from Expression Pattern more info	PubMed
involved_in regulation of postsynapse organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of protein binding	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of synaptic plasticity	IGI Inferred from Genetic Interaction more info	PubMed
involved_in skin morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within somitogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within thymus development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within tumor necrosis factor production	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within tumor necrosis factor production	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
part_of gamma-secretase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of gamma-secretase complex	IC Inferred by Curator more info	PubMed
part_of gamma-secretase complex	IDA Inferred from Direct Assay more info	PubMed
part_of gamma-secretase complex	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in kinetochore	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear inner membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
is_active_in presynaptic membrane	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in synaptic membrane	ISO Inferred from Sequence Orthology more info
located_in synaptic vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: presenilin-2

NP_001122077.1

EC 3.4.23.-

NP_001407399.1

EC 3.4.23.-

NP_001407400.1

EC 3.4.23.-

NP_001407401.1

EC 3.4.23.-

NP_035313.2

EC 3.4.23.-

XP_011237078.1

EC 3.4.23.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.