Psen2 presenilin 2 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Psen2provided by RGD
Official Full Name: presenilin 2provided by RGD
Primary source: RGD:621060
See related: EnsemblRapid:ENSRNOG00000002879 AllianceGenome:RGD:621060
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable aspartic endopeptidase activity, intramembrane cleaving. Involved in response to hypoxia. Located in early endosome; synaptic membrane; and synaptic vesicle. Is active in presynaptic membrane. Human ortholog(s) of this gene implicated in Alzheimer's disease; Alzheimer's disease 4; breast cancer; and dilated cardiomyopathy 1V. Orthologous to human PSEN2 (presenilin 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Heart (RPKM 62.9), Liver (RPKM 50.6) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 13q26

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	13	NC_086031.1 (94499451..94528419, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	13	NC_051348.1 (91967506..91993240, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	13	NC_005112.4 (98513600..98539347, complement)

Chromosome 13 - NC_086031.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Downregulating the expression of miR-375, miR-30a, and miR-34a restored PSEN1, PSEN2, and NICD1 production and prevented glucotoxicity-induced impairment of the beta cells.Our findings demonstrated that miRNA-mediated suppression of NICD1 links the presenilin/Notch1 pathway to glucotoxicity in mature pancreatic beta cells
Title: A Presenilin/Notch1 pathway regulated by miR-375, miR-30a, and miR-34a mediates glucotoxicity induced-pancreatic beta cell apoptosis.
Significant dysregulation of presenilin 2 gene was found in neuronal cells following brain ischemia due to cardiac arrest.
Title: Alzheimer-associated presenilin 2 gene is dysregulated in rat medial temporal lobe cortex after complete brain ischemia due to cardiac arrest.
Ablation of presenilins results in deficiency of CD8 cells in the periphery and a dramatic change in the physiology of thymocytes.
Title: Effect of presenilins in the apoptosis of thymocytes and homeostasis of CD8+ T cells.
PS2-LP-mediated alteration of intracellular Ca(2+) homeostasis may be linked to the acceleration of apoptosis
Title: The presenilin-2 loop peptide perturbs intracellular Ca2+ homeostasis and accelerates apoptosis.
Calmyrin binds specifically endogenous preseninin-2 (PS2) and not PS1.
Title: Ca2+-independent binding and cellular expression profiles question a significant role of calmyrin in transduction of Ca2+-signals to Alzheimer's disease-related presenilin 2 in forebrain.
a rare non-conservative single-nucleotide polymorphism was detected in the PSEN2 gene (P334R) in a large kindred with familial late-onset AD.
Title: Uncommon polymorphism in the presenilin genes in human familial Alzheimer's disease: not to be mistaken with a pathogenic mutation.
The finding of presenilin-2 in the heart and the responsiveness to low glucose and hypoxia suggests that PS2 may be regulated by conditions of ischemia, a condition which both the heart and brain may experience.
Title: Presenilins in the heart: presenilin-2 expression is increased by low glucose and by hypoxia in cardiac cells.
These findings indicated that mutant presenilin 2 clearly increases oxidative stress and p53 expression, which could be implicated in promoting mutant presenilin 2-induced neurodegeneration in Alzheimer's disease.
Title: Mutant presenilin 2 increased oxidative stress and p53 expression in neuronal cells.

Submit: New GeneRIF Correction

General gene information

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Markers

RH140726 (e-PCR)
- UniSTS:222792

RH142771 (e-PCR)
- UniSTS:232018

Gene Ontology Provided by RGD

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	ISO Inferred from Sequence Orthology more info
enables endopeptidase activity	ISO Inferred from Sequence Orthology more info

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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within T cell activation involved in immune response	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within T cell receptor signaling pathway	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
acts_upstream_of apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within brain morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within calcium ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cardiac muscle contraction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell fate specification	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within dorsal/ventral neural tube patterning	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within embryonic limb morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within endoplasmic reticulum calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within forebrain development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hair follicle development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hematopoietic progenitor cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within learning or memory	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within locomotion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lung alveolus development	ISO Inferred from Sequence Orthology more info
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
acts_upstream_of_or_within memory	ISO Inferred from Sequence Orthology more info
involved_in mitochondrion-endoplasmic reticulum membrane tethering	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within myeloid leukocyte differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of epidermal growth factor-activated receptor activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ubiquitin-protein transferase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuroinflammatory response	ISO Inferred from Sequence Orthology more info
involved_in neuron cellular homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of coagulation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of extrinsic apoptotic signaling pathway via death domain receptors	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of receptor recycling	ISO Inferred from Sequence Orthology more info
involved_in protein catabolic process at postsynapse	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein maturation	ISO Inferred from Sequence Orthology more info
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein processing	ISO Inferred from Sequence Orthology more info
involved_in protein processing	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of calcium import into the mitochondrion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of epidermal growth factor-activated receptor activity	ISO Inferred from Sequence Orthology more info
involved_in regulation of postsynapse organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of synaptic plasticity	ISO Inferred from Sequence Orthology more info
involved_in response to hypoxia	IEP Inferred from Expression Pattern more info	PubMed
involved_in skin morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within somitogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within thymus development	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in Z disc	ISO Inferred from Sequence Orthology more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in kinetochore	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
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 postsynapse	IEA Inferred from Electronic Annotation more info
is_active_in presynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in synaptic membrane	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: presenilin-2

Names: PS-2

NP_112349.2

EC 3.4.23.-

XP_006250467.1

EC 3.4.23.-

XP_006250469.1

EC 3.4.23.-

XP_006250470.1

EC 3.4.23.-

XP_006250472.1

EC 3.4.23.-

XP_008768099.1

EC 3.4.23.-

XP_038947041.1

EC 3.4.23.-

XP_063128701.1

EC 3.4.23.-

XP_063128702.1

EC 3.4.23.-

XP_063128703.1

EC 3.4.23.-

XP_063128704.1

EC 3.4.23.-

XP_063128705.1

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.