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Psen2 - presenilin 2 Gene

Also Known as PS2; Ad4h; Alg3; PS-2; STM2; ALG-3; Psnl2

Species: Mus musculus

Gene Type: protein coding

Gene ID: 19165

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]

Psen2 Products (2)

mRNA	Protein	Name
NM_001128605.1	NP_001122077.1	presenilin-2
NM_011183.3	NP_035313.2	presenilin-2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables aspartic endopeptidase activity, intramembrane cleaving	IGI IGI: Inferred from genetic interaction	21206757	MGI
enables aspartic endopeptidase activity, intramembrane cleaving	IMP IMP: Inferred from mutant phenotype	12684521	MGI
enables endopeptidase activity	IGI IGI: Inferred from genetic interaction	17920016	MGI
enables endopeptidase activity	IMP IMP: Inferred from mutant phenotype	17556541	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	11719200	MGI

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within Notch signaling pathway	IGI IGI: Inferred from genetic interaction	17698590	MGI
acts upstream of or within T cell activation involved in immune response	IGI IGI: Inferred from genetic interaction	17698590	MGI
acts upstream of or within T cell receptor signaling pathway	IGI IGI: Inferred from genetic interaction	17698590	MGI
acts upstream of or within amyloid-beta metabolic process	IDA IDA: Inferred from direct assay	10846187	MGI
acts upstream of or within amyloid-beta metabolic process	IMP IMP: Inferred from mutant phenotype	12684521	MGI
acts upstream of or within anagen	IGI IGI: Inferred from genetic interaction	15525534	MGI
acts upstream of apoptotic signaling pathway	IGI IGI: Inferred from genetic interaction	15148382	MGI
acts upstream of or within brain morphogenesis	IGI IGI: Inferred from genetic interaction	17614943	MGI
acts upstream of or within calcium ion transport	IPI IPI: Inferred from physical interaction	16204356	MGI
acts upstream of or within cardiac muscle contraction	IMP IMP: Inferred from mutant phenotype	16204356	MGI
acts upstream of or within cell fate specification	IGI IGI: Inferred from genetic interaction	15525534	MGI
acts upstream of or within dorsal/ventral neural tube patterning	IGI IGI: Inferred from genetic interaction	10557208	MGI
acts upstream of or within embryo development	IGI IGI: Inferred from genetic interaction	10518543	MGI
acts upstream of or within embryonic limb morphogenesis	IGI IGI: Inferred from genetic interaction	16169548	MGI
acts upstream of or within endoplasmic reticulum calcium ion homeostasis	IGI IGI: Inferred from genetic interaction	12460542	MGI
acts upstream of or within forebrain development	IGI IGI: Inferred from genetic interaction	15148382	MGI
acts upstream of or within hair follicle development	IGI IGI: Inferred from genetic interaction	10557208	MGI
acts upstream of or within hematopoietic progenitor cell differentiation	IGI IGI: Inferred from genetic interaction	15122901	MGI
acts upstream of or within interleukin-6 production	IGI IGI: Inferred from genetic interaction	21206757	MGI
acts upstream of or within interleukin-6 production	IMP IMP: Inferred from mutant phenotype	21206757	MGI
acts upstream of or within learning or memory	IGI IGI: Inferred from genetic interaction	15066262	MGI
acts upstream of or within locomotion	IGI IGI: Inferred from genetic interaction	15148382	MGI
acts upstream of or within lung alveolus development	IMP IMP: Inferred from mutant phenotype	10518543	MGI
acts upstream of or within macrophage cytokine production	IGI IGI: Inferred from genetic interaction	21206757	MGI
acts upstream of or within macrophage cytokine production	IMP IMP: Inferred from mutant phenotype	21206757	MGI
acts upstream of or within memory	IGI IGI: Inferred from genetic interaction	15148382	MGI
acts upstream of or within myeloid leukocyte differentiation	IGI IGI: Inferred from genetic interaction	15122901	MGI
acts upstream of or within negative regulation of apoptotic signaling pathway	IGI IGI: Inferred from genetic interaction	15148382	MGI
involved in negative regulation of epidermal growth factor-activated receptor activity	IMP IMP: Inferred from mutant phenotype	20208556	MGI
acts upstream of or within negative regulation of protein phosphorylation	IGI IGI: Inferred from genetic interaction	15148382	MGI
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	20208556	MGI
involved in negative regulation of ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	20208556	MGI
involved in negative regulation of ubiquitin-protein transferase activity	IMP IMP: Inferred from mutant phenotype	20208556	MGI
acts upstream of or within neuroinflammatory response	IGI IGI: Inferred from genetic interaction	21206757	MGI
acts upstream of or within neuroinflammatory response	IMP IMP: Inferred from mutant phenotype	21206757	MGI
involved in neuron cellular homeostasis	IGI IGI: Inferred from genetic interaction	25429133	MGI
acts upstream of or within positive regulation of apoptotic process	IGI IGI: Inferred from genetic interaction	16169548	MGI
acts upstream of or within positive regulation of coagulation	IMP IMP: Inferred from mutant phenotype	12646573	MGI
acts upstream of or within positive regulation of extrinsic apoptotic signaling pathway via death domain receptors	IDA IDA: Inferred from direct assay	8940094	MGI
involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	20208556	MGI
involved in positive regulation of receptor recycling	IMP IMP: Inferred from mutant phenotype	20208556	MGI
involved in protein catabolic process at postsynapse	IDA IDA: Inferred from direct assay	23083742	MGI
involved in protein catabolic process at postsynapse	IEP IEP: Inferred from expression pattern	23083742	MGI
involved in protein catabolic process at postsynapse	IMP IMP: Inferred from mutant phenotype	23083742	MGI
acts upstream of or within protein maturation	IGI IGI: Inferred from genetic interaction	11943765	MGI
acts upstream of or within protein metabolic process	IGI IGI: Inferred from genetic interaction	17097608	MGI
acts upstream of or within protein processing	IGI IGI: Inferred from genetic interaction	15280425	MGI
acts upstream of or within protein transport	IGI IGI: Inferred from genetic interaction	11943765	MGI
acts upstream of or within regulation of epidermal growth factor-activated receptor activity	IGI IGI: Inferred from genetic interaction	17556541	MGI
involved in regulation of postsynapse organization	IDA IDA: Inferred from direct assay	23083742	MGI
involved in regulation of postsynapse organization	IEP IEP: Inferred from expression pattern	23083742	MGI
involved in regulation of postsynapse organization	IMP IMP: Inferred from mutant phenotype	23083742	MGI
acts upstream of or within regulation of protein binding	IGI IGI: Inferred from genetic interaction	17920016	MGI
acts upstream of or within regulation of synaptic plasticity	IGI IGI: Inferred from genetic interaction	15066262	MGI
involved in skin morphogenesis	IMP IMP: Inferred from mutant phenotype	20208556	MGI
acts upstream of or within somitogenesis	IGI IGI: Inferred from genetic interaction	10557208	MGI
acts upstream of or within thymus development	IGI IGI: Inferred from genetic interaction	17698590	MGI
acts upstream of or within tumor necrosis factor production	IGI IGI: Inferred from genetic interaction	21206757	MGI
acts upstream of or within tumor necrosis factor production	IMP IMP: Inferred from mutant phenotype	21206757	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in Z disc	IDA IDA: Inferred from direct assay	16204356	MGI
located in ciliary basal body	IDA IDA: Inferred from direct assay	21703454	MGI
located in cytosol	IDA IDA: Inferred from direct assay	9535056	MGI
part of gamma-secretase complex	IDA IDA: Inferred from direct assay	12684521	MGI
is active in glutamatergic synapse	IDA IDA: Inferred from direct assay	23083742	MGI
is active in glutamatergic synapse	IEP IEP: Inferred from expression pattern	23083742	MGI
is active in glutamatergic synapse	IMP IMP: Inferred from mutant phenotype	23083742	MGI
located in membrane	IDA IDA: Inferred from direct assay	9535056	MGI
located in neuronal cell body	IDA IDA: Inferred from direct assay	9203550	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
presenilin-2

Psen2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	Psen2	Q61144	Kcnip3	Mus musculus	Q9QXT8	Anti Bait CoIP	30559648

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11277	PSEN2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Psen2	NCBI	NCBI:5664