Psen2 Gene Summary [Mouse]

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]

Details

Type
Processed Transcript
Official Symbol
Psen2
Official Name
presenilin 2 [Source:MGI Symbol;Acc:MGI:109284]
Ensembl ID
ENSMUSG00000010609
Bio databases IDs NCBI: 19165 Ensembl: ENSMUSG00000010609
Aliases presenilin 2
Synonyms AD3L, AD3LP, AD4, Ad4h, AI266870, ALG-3, CMD1V, E5-1, presenilin 2, PS-2, PSNL2, STM2
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Psen2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • aspartic endopeptidase, intramembrane cleaving
  • endopeptidase
  • Presenilin
  • catalytic domain
  • hydrophilic domain
  • peptidase
  • transmembrane domain
  • protein binding
  • loop domain
  • Signal peptide peptidase
  • hydrophilic loop domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • dementia
  • neoplasia
  • bleeding
  • hyperkeratosis
  • acute myeloid leukemia
  • leiomyomatosis
  • dermatological disorder
  • leukocytosis
  • Alzheimer disease type 4
  • Alzheimer disease
regulated by
  • APP
  • SK-N-SH cells
  • MAP3K8
  • beta-estradiol
  • lipopolysaccharide
  • fibroblasts
  • PAGA
  • RB1
  • IFNG
  • pifithrin alpha
regulates
role in cell
  • proliferation
  • expression in
  • activation in
  • phosphorylation in
  • formation
  • apoptosis
  • quantity
  • cell death
  • activation
  • production in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • nucleoplasmic fraction
  • raft fractions
  • endoplasmic reticulum fraction
  • membrane fraction
  • glutaminergic synapse
  • cell surface
  • perinuclear region
  • intracellular membranes
  • cellular membrane
  • Nucleus
  • Plasma Membrane
  • basal bodies
  • centrosome
  • lysosome
  • Golgi Apparatus
  • Endoplasmic Reticulum
  • granules
  • cytosol
  • endoplasmic reticulum membrane
  • caveolar membranes
  • presynaptic membrane
  • synaptic membrane
  • Golgi membrane
  • inner nuclear membrane
  • nuclear envelope
  • synaptic vesicles
  • dendrite initial segments
  • Z line
  • early endosomes
  • rough endoplasmatic reticulum
  • kinetochores
  • perikaryon
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Psen2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • amyloid precursor protein catabolic process
  • response to hypoxia
  • calcium ion homeostasis
  • Notch signaling pathway
  • membrane protein ectodomain proteolysis
  • Notch receptor processing
  • protein processing
  • intracellular signal transduction
  • beta-amyloid formation

Cellular Component

Where in the cell the gene product is active
  • presynaptic membrane
  • synaptic vesicle
  • Golgi membrane
  • Golgi apparatus
  • endoplasmic reticulum
  • kinetochore
  • plasma membrane
  • endoplasmic reticulum membrane
  • centrosome
  • nuclear inner membrane
  • early endosome
  • membrane
  • gamma-secretase complex
  • macromolecular complex

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • aspartic endopeptidase activity, intramembrane cleaving

Gene-Specific Assays for Results You Can Trust

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