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    PSEN2 presenilin 2 [ Homo sapiens (human) ]

    Gene ID: 5664, updated on 24-Nov-2021

    Summary

    Official Symbol
    PSEN2provided by HGNC
    Official Full Name
    presenilin 2provided by HGNC
    Primary source
    HGNC:HGNC:9509
    See related
    Ensembl:ENSG00000143801 MIM:600759
    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]
    Expression
    Ubiquitous expression in testis (RPKM 4.6), prostate (RPKM 4.4) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PSEN2 in Genome Data Viewer
    Location:
    1q42.13
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (226870594..226903829)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (227058317..227083799)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12356 Neighboring gene uncharacterized LOC105373119 Neighboring gene uncharacterized LOC107985354 Neighboring gene coenzyme Q8A

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables aspartic endopeptidase activity, intramembrane cleaving IEA
    Inferred from Electronic Annotation
    more info
     
    enables endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    involved_in Notch receptor processing TAS
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in amyloid precursor protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in amyloid precursor protein catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in amyloid-beta formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in amyloid-beta metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in calcium ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in membrane protein ectodomain proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in membrane protein ectodomain proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mitochondrion-endoplasmic reticulum membrane tethering IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of catalytic activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of calcium import into the mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in cell cortex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in ciliary rootlet IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in dendritic shaft IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of gamma-secretase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in growth cone IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in membrane HDA PubMed 
    is_active_in membrane raft IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in neuromuscular junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nuclear inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in perinuclear region of cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    presenilin-2
    Names
    AD3LP
    AD5
    Alzheimer disease 4
    E5-1
    PS-2
    STM-2
    NP_000438.2
    NP_036618.2
    XP_005273256.1
    XP_016857324.1
    XP_016857325.1

    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.

    Genomic

    1. NG_007381.2 RefSeqGene

      Range
      5433..30915
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_225

    mRNA and Protein(s)

    1. NM_000447.3NP_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)
      BT006984, DA198818, DA915823, L43964
      Consensus CDS
      CCDS1556.1
      UniProtKB/Swiss-Prot
      P49810
      Related
      ENSP00000355747.3, ENST00000366783.8
      Conserved Domains (1) summary
      pfam01080
      Location:82438
      Presenilin
    2. NM_012486.3NP_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)
      DA198818, DA915823, L43964, U34349
      Consensus CDS
      CCDS44324.1
      UniProtKB/Swiss-Prot
      P49810
      Related
      ENSP00000403737.2, ENST00000422240.6
      Conserved Domains (1) summary
      pfam01080
      Location:82437
      Presenilin

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      226870594..226903829
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273199.4XP_005273256.1  presenilin-2 isoform X1

      See identical proteins and their annotated locations for XP_005273256.1

      UniProtKB/Swiss-Prot
      P49810
      Related
      ENSP00000503116.1, ENST00000677414.1
      Conserved Domains (1) summary
      pfam01080
      Location:82438
      Presenilin
    2. XM_017001836.1XP_016857325.1  presenilin-2 isoform X2

      UniProtKB/Swiss-Prot
      P49810
      Related
      ENSP00000503244.1, ENST00000676747.1
      Conserved Domains (1) summary
      pfam01080
      Location:82437
      Presenilin
    3. XM_017001835.1XP_016857324.1  presenilin-2 isoform X1

      UniProtKB/Swiss-Prot
      P49810
      Conserved Domains (1) summary
      pfam01080
      Location:82438
      Presenilin

    RNA

    1. XR_001737316.2 RNA Sequence

    2. XR_001737317.2 RNA Sequence

      Related
      ENST00000678784.1
    3. XR_949150.3 RNA Sequence

    4. XR_001737318.2 RNA Sequence

      Related
      ENST00000677596.1
    5. XR_949149.2 RNA Sequence

      Related
      ENST00000676888.1
    6. XR_001737321.1 RNA Sequence

    7. XR_001737319.1 RNA Sequence

    8. XR_001737320.1 RNA Sequence

      Related
      ENST00000678776.1
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