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Psen2 presenilin 2 [ Mus musculus (house mouse) ]

Gene ID: 19165, updated on 12-May-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
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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_000067.7Genomic 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 hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables peptidase activity IEA
Inferred from Electronic Annotation
more info
 
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 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
 
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
 
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 
involved_in positive regulation of catalytic activity ISO
Inferred from Sequence Orthology
more info
 
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
 
acts_upstream_of_or_within protein transport IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within proteolysis IEA
Inferred from Electronic Annotation
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 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 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
 
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 TAS
Traceable Author Statement
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
  3. NM_001420471.1NP_001407400.1  presenilin-2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC132436
  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