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    Psenen presenilin enhancer gamma secretase subunit [ Mus musculus (house mouse) ]

    Gene ID: 66340, updated on 27-Nov-2024

    Summary

    Official Symbol
    Psenenprovided by MGI
    Official Full Name
    presenilin enhancer gamma secretase subunitprovided by MGI
    Primary source
    MGI:MGI:1913590
    See related
    Ensembl:ENSMUSG00000036835 AllianceGenome:MGI:1913590
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Pen2; Pen-2; 1700023M09Rik
    Summary
    Enables endopeptidase activator activity. Involved in positive regulation of endopeptidase activity and protein processing. Acts upstream of or within Notch receptor processing. Part of gamma-secretase complex. Is expressed in early tubule; female associated reproductive structure; male associated reproductive structure; ovary; and testis. Human ortholog(s) of this gene implicated in hidradenitis suppurativa. Orthologous to human PSENEN (presenilin enhancer, gamma-secretase subunit). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in large intestine adult (RPKM 80.2), kidney adult (RPKM 63.6) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Psenen in Genome Data Viewer
    Location:
    7 B1; 7 18.6 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (30261290..30263052, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (30561865..30563627, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene microRNA 9769 Neighboring gene heat shock protein, alpha-crystallin-related, B6 Neighboring gene lin-37 DREAM MuvB core complex component Neighboring gene STARR-positive B cell enhancer ABC_E870 Neighboring gene STARR-positive B cell enhancer ABC_E1338 Neighboring gene STARR-positive B cell enhancer ABC_E4917 Neighboring gene U2 small nuclear RNA auxiliary factor 1-like 4 Neighboring gene IGF-like family receptor 1 Neighboring gene lysine (K)-specific methyltransferase 2B

    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)
    • Endonuclease-mediated (3) 
    • Targeted (3)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC102026

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables endopeptidase activator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables endopeptidase activator activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables enzyme binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Notch receptor processing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within Notch receptor processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in Notch receptor processing NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in amyloid precursor protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in amyloid precursor protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in amyloid precursor protein metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in amyloid precursor protein metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in amyloid-beta formation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in amyloid-beta formation ISS
    Inferred from Sequence or Structural Similarity
    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
     
    involved_in membrane protein intracellular domain proteolysis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in membrane protein intracellular domain proteolysis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein processing IMP
    Inferred from Mutant Phenotype
    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
     
    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 cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in Golgi membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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 NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in endoplasmic reticulum membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of gamma-secretase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    part_of gamma-secretase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    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 presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in presynaptic membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    gamma-secretase subunit PEN-2
    Names
    presenilin enhancer 2 homolog
    presenilin enhancer protein 2

    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_001364016.1NP_001350945.1  gamma-secretase subunit PEN-2

      Status: VALIDATED

      Source sequence(s)
      AC167970
      Consensus CDS
      CCDS21099.1
      UniProtKB/Swiss-Prot
      Q9CQR7
      UniProtKB/TrEMBL
      A0A140LHM2
      Related
      ENSMUSP00000146469.2, ENSMUST00000208628.2
      Conserved Domains (1) summary
      pfam10251
      Location:799
      PEN-2; Presenilin enhancer-2 subunit of gamma secretase
    2. NM_001364017.1NP_001350946.1  gamma-secretase subunit PEN-2

      Status: VALIDATED

      Source sequence(s)
      AC167970, AV576632, W65052
      Consensus CDS
      CCDS21099.1
      UniProtKB/Swiss-Prot
      Q9CQR7
      UniProtKB/TrEMBL
      A0A140LHM2
      Conserved Domains (1) summary
      pfam10251
      Location:799
      PEN-2; Presenilin enhancer-2 subunit of gamma secretase
    3. NM_025498.3NP_079774.1  gamma-secretase subunit PEN-2

      See identical proteins and their annotated locations for NP_079774.1

      Status: VALIDATED

      Source sequence(s)
      AC167970, BC081443
      Consensus CDS
      CCDS21099.1
      UniProtKB/Swiss-Prot
      Q9CQR7
      UniProtKB/TrEMBL
      A0A140LHM2
      Related
      ENSMUSP00000044682.7, ENSMUST00000043898.8
      Conserved Domains (1) summary
      pfam10251
      Location:799
      PEN-2; Presenilin enhancer-2 subunit of gamma secretase

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      30261290..30263052 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)