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    PSEN2 presenilin 2 [ Homo sapiens (human) ]

    Gene ID: 5664, updated on 30-Jun-2015
    Official Symbol
    PSEN2provided by HGNC
    Official Full Name
    presenilin 2provided by HGNC
    Primary source
    HGNC:HGNC:9509
    See related
    Ensembl:ENSG00000143801; HPRD:02860; MIM:600759; Vega:OTTHUMG00000037563
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AD4; PS2; AD3L; STM2; CMD1V
    Summary
    Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008]
    Orthologs
    See PSEN2 in Epigenomics, MapViewer
    Location:
    1q42.13
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (226870572..226896103)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (227057885..227083804)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373118 Neighboring gene uncharacterized LOC105373119 Neighboring gene uncharacterized LOC105373120 Neighboring gene aarF domain containing kinase 3 Neighboring gene glucose-dependent insulinotropic receptor-like

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Replication interactions

    Interaction Pubs
    Knockdown of presenilin 2 (Alzheimer disease 4, PSEN2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    • Homologs of the PSEN2 gene: The PSEN2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, rice, and frog.
    • Orthologs from Annotation Pipeline: 150 organisms have orthologs with human gene PSEN2
    • Map Viewer (Mouse, Rat)

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    aspartic-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Notch receptor processing TAS
    Traceable Author Statement
    more info
    PubMed 
    Notch signaling pathway TAS
    Traceable Author Statement
    more info
     
    T cell activation involved in immune response IEA
    Inferred from Electronic Annotation
    more info
     
    T cell receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    amyloid precursor protein catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    apoptotic signaling pathway TAS
    Traceable Author Statement
    more info
     
    axon guidance TAS
    Traceable Author Statement
    more info
     
    beta-amyloid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    brain morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cardiac muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    cell fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    dorsal/ventral neural tube patterning IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic limb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    ephrin receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    forebrain development IEA
    Inferred from Electronic Annotation
    more info
     
    hair follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    hematopoietic progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    lung alveolus development IEA
    Inferred from Electronic Annotation
    more info
     
    membrane protein ectodomain proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane protein intracellular domain proteolysis TAS
    Traceable Author Statement
    more info
     
    memory IEA
    Inferred from Electronic Annotation
    more info
     
    myeloid leukocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    negative regulation of extrinsic apoptotic signaling pathway via death domain receptors IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of protein complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    neurotrophin TRK receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    positive regulation of apoptotic process TAS
    Traceable Author Statement
    more info
     
    positive regulation of catalytic activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    protein processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of epidermal growth factor-activated receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of synaptic plasticity IEA
    Inferred from Electronic Annotation
    more info
     
    somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    thymus development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cell cortex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ciliary basal body IEA
    Inferred from Electronic Annotation
    more info
     
    ciliary rootlet IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    dendritic shaft IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    growth cone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane raft IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    neuromuscular junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nuclear inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    perinuclear region of cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    presenilin-2
    Names
    AD3LP
    AD5
    Alzheimer disease 4
    E5-1
    PS-2
    STM-2

    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.

    Genomic

    1. NG_007381.1 RefSeqGene

      Range
      5001..30532
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000447.2NP_000438.2  presenilin-2 isoform 1

      See identical proteins and their annotated locations for NP_000438.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AI091221, BT006984, DA198818, DA915823, L43964
      Consensus CDS
      CCDS1556.1
      UniProtKB/Swiss-Prot
      P49810
      Related
      ENSP00000355747, OTTHUMP00000035671, ENST00000366783, OTTHUMT00000091539
      Conserved Domains (1) summary
      pfam01080
      Location:76439
      Presenilin; Presenilin
    2. NM_012486.2NP_036618.2  presenilin-2 isoform 2

      See identical proteins and their annotated locations for NP_036618.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice acceptor site at exon 10 compared to transcript variant 1, resulting in an isoform (2) that is 1 aa shorter than isoform 1.
      Source sequence(s)
      AI091221, DA198818, DA915823, L43964, U34349
      Consensus CDS
      CCDS44324.1
      UniProtKB/Swiss-Prot
      P49810
      Related
      ENSP00000403737, OTTHUMP00000228286, ENST00000422240, OTTHUMT00000091545
      Conserved Domains (1) summary
      pfam01080
      Location:76438
      Presenilin; Presenilin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

      Range
      226870572..226896103
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273199.2XP_005273256.1  

      See identical proteins and their annotated locations for XP_005273256.1

      UniProtKB/Swiss-Prot
      P49810
      Related
      ENSP00000486498, ENST00000626989
      Conserved Domains (1) summary
      pfam01080
      Location:76439
      Presenilin; Presenilin
    2. XM_011544236.1XP_011542538.1  

      Conserved Domains (1) summary
      cl01342
      Location:1295
      Peptidase_A22B; Signal peptide peptidase

    RNA

    1. XR_949149.1 RNA Sequence

    2. XR_949150.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      228331030..228356564
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)