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    Psen2 presenilin 2 [ Mus musculus (house mouse) ]

    Gene ID: 19165, updated on 27-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Psen2 in Genome Data Viewer
    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_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_03189 Neighboring gene predicted gene, 57491 Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:182156600-182156883 Neighboring gene predicted gene, 37336 Neighboring gene STARR-seq mESC enhancer starr_03192 Neighboring gene STARR-positive B cell enhancer ABC_E5867 Neighboring gene predicted gene, 31728 Neighboring gene STARR-positive B cell enhancer ABC_E5868 Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:182226418-182226527 Neighboring gene predicted gene, 39713 Neighboring gene STARR-positive B cell enhancer ABC_E3341 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene inositol 1,4,5-trisphosphate 3-kinase B

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (2) 
    • Targeted (4)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    presenilin-2
    NP_001122077.1
    NP_001407399.1
    NP_001407400.1
    NP_001407401.1
    NP_035313.2
    XP_011237078.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001128605.2NP_001122077.1  presenilin-2 isoform 1

      See identical proteins and their annotated locations for NP_001122077.1

      Status: REVIEWED

      Source sequence(s)
      AC132436
      Consensus CDS
      CCDS15567.1
      UniProtKB/Swiss-Prot
      O54977, P97934, P97935, Q61144, Q91VS3, Q9D616
      UniProtKB/TrEMBL
      Q3U4P5
      Related
      ENSMUSP00000106737.4, ENSMUST00000111108.10
      Conserved Domains (1) summary
      pfam01080
      Location:82438
      Presenilin; Presenilin
    2. NM_001420470.1NP_001407399.1  presenilin-2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC132436
      UniProtKB/TrEMBL
      A0A0R4J1F2
      Related
      ENSMUSP00000106733.2, ENSMUST00000111104.2
    3. NM_001420471.1NP_001407400.1  presenilin-2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC132436
      Related
      ENSMUST00000130711.8
    4. NM_001420472.1NP_001407401.1  presenilin-2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC132436
    5. NM_011183.4NP_035313.2  presenilin-2 isoform 1

      See identical proteins and their annotated locations for NP_035313.2

      Status: REVIEWED

      Source sequence(s)
      AC132436
      Consensus CDS
      CCDS15567.1
      UniProtKB/Swiss-Prot
      O54977, P97934, P97935, Q61144, Q91VS3, Q9D616
      UniProtKB/TrEMBL
      Q3U4P5
      Related
      ENSMUSP00000010753.8, ENSMUST00000010753.14
      Conserved Domains (1) summary
      pfam01080
      Location:82438
      Presenilin; Presenilin

    RNA

    1. NR_185180.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC132436
    2. NR_185181.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC132436
    3. NR_185182.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC132436
    4. NR_185183.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC132436
    5. NR_185184.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC132436

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      180054569..180091030 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011238776.4XP_011237078.1  presenilin-2 isoform X1

      See identical proteins and their annotated locations for XP_011237078.1

      UniProtKB/Swiss-Prot
      O54977, P97934, P97935, Q61144, Q91VS3, Q9D616
      UniProtKB/TrEMBL
      Q3U4P5
      Conserved Domains (1) summary
      pfam01080
      Location:82438
      Presenilin; Presenilin