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PSENEN Gene

protein-coding   GIFtS: 59
GCID: GC19P036236

Presenilin Enhancer Gamma Secretase Subunit

(Previous name: presenilin enhancer 2 homolog (C. elegans))
  See PSENEN-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Presenilin Enhancer Gamma Secretase Subunit1 2     Gamma-Secretase Subunit PEN-22
PEN22 3 5     Hematopoietic Stem/Progenitor Cells Protein MDS0332
Presenilin Enhancer 2 Homolog (C. Elegans)1     Presenilin Enhancer 2 Homolog2
MSTP0642     Presenilin Enhancer Protein 23
PEN-22     

External Ids:    HGNC: 301001   Entrez Gene: 558512   Ensembl: ENSG000002051557   OMIM: 6076325   UniProtKB: Q9NZ423   

Export aliases for PSENEN gene to outside databases

Previous GC identifers: GC19P040935 GC19P040936 GC19P040938 GC19P040939 GC19P032741


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PSENEN Gene:
Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous
processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor
protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the
beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques
associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling,
and for the activity and accumulation of gamma-secretase. Mutations resulting in haploinsufficiency for this gene
cause familial acne inversa-2 (ACNINV2). Alternative splicing results in multiple transcript variants. (provided
by RefSeq, Jul 2013)

GeneCards Summary for PSENEN Gene:
PSENEN (presenilin enhancer gamma secretase subunit) is a protein-coding gene. Diseases associated with PSENEN include hidradenitis, and acne inversa, familial, 2. An important paralog of this gene is ENSG00000188223.

UniProtKB/Swiss-Prot: PEN2_HUMAN, Q9NZ42
Function: Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the
intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor
protein). Probably represents the last step of maturation of gamma-secretase, facilitating endoproteolysis of
presenilin and conferring gamma-secretase activity

summary for PSENEN Gene:
Secretases are a group of enzymes involved in the proteolytic cleavage of amyloid precursor protein (APP).
There are three types of secretases, alpha-secretase, beta-secretase and gamma-secretase. gamma-Secretase is
a multi-subunit internal protease that cleaves within the transmembrane domain of its substrates. It is
itself an integral membrane protein and minimally consists of four proteins; presenilin, nicastrin, APH-1
and PEN-2. Presenilin is an aspartic protease and the catalytic subunit of the complex. There are two
important substrates of gamma-secretase; amyloid precursor protein (APP) and Notch. gamma-secretase can
cleave several sites within APP, and the most common products are Abeta40 and Abeta42. Abeta42 is
fibrillogenic and associated with disease states, notably Alzheimer's disease. gamma-Secretase catalyzes the
second step in Notch protein cleavage. gamma-Secretase cleaves within the transmembrane domain of Notch,
releasing the intracellular domain (Nbeta) into the cytoplasm. Nbeta moves to the nucleus where it can
regulate gene expression by activating the transcription factor CSL. This gamma-secretase-Notch signaling
pathway has a role in promoting angiogenesis in the embryo and wound healing in the adult.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the PSENEN gene promoter:
         Max1   CREB   PPAR-gamma1   p53   deltaCREB   ZIC2/Zic2   PPAR-gamma2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPSENEN promoter sequence
   Search Chromatin IP Primers for PSENEN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PSENEN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.12   Ensembl cytogenetic band:  19q13.12   HGNC cytogenetic band: 19q13.12

PSENEN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PSENEN gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P036236:  view genomic region     (about GC identifiers)

Start:
36,236,015 bp from pter      End:
36,237,911 bp from pter
Size:
1,897 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PEN2_HUMAN, Q9NZ42 (See protein sequence)
Recommended Name: Gamma-secretase subunit PEN-2  
Size: 101 amino acids; 12029 Da
Subunit: Component of the gamma-secretase complex, a complex composed of a presenilin homodimer (PSEN1 or PSEN2),
nicastrin (NCSTN), APH1 (APH1A or APH1B) and PSENEN/PEN2. Such minimal complex is sufficient for secretase
activity, although other components may exist
Secondary accessions: B2R5L9

Explore the universe of human proteins at neXtProt for PSENEN: NX_Q9NZ42

Explore proteomics data for PSENEN at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PSENEN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001268461.1  NP_758844.1  

    ENSEMBL proteins: 
     ENSP00000468411   ENSP00000468593   ENSP00000222266  
    Reactome Protein details: Q9NZ42

    PSENEN Human Recombinant Protein Products:

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    Novus Biologicals PSENEN Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for PSENEN 

     
    antibodies-online proteins for PSENEN (2 products) 

     
    antibodies-online peptides for PSENEN

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    ThermoFisher Antibodies for PSENEN
    antibodies-online antibodies for PSENEN (54 products) 

    PSENEN Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for PSENEN 
    antibodies-online kits for PSENEN (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR019379 Gamma_Secretase_Asp_P_PEN2

    Graphical View of Domain Structure for InterPro Entry Q9NZ42

    ProtoNet protein and cluster: Q9NZ42

    UniProtKB/Swiss-Prot: PEN2_HUMAN, Q9NZ42
    Similarity: Belongs to the PEN-2 family


    Find genes that share domains with PSENEN           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PEN2_HUMAN, Q9NZ42
    Function: Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the
    intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor
    protein). Probably represents the last step of maturation of gamma-secretase, facilitating endoproteolysis of
    presenilin and conferring gamma-secretase activity

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16641999
         
    Find genes that share ontologies with PSENEN           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for PSENEN:
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Psenen):
     mortality/aging 

    Find genes that share phenotypes with PSENEN           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Psenentm1Lex for PSENEN

       genOway: Develop your customized and physiologically relevant rodent model for PSENEN

    miRNA
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    Block miRNA regulation of human, mouse, rat PSENEN using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate PSENEN:
    hsa-miR-30c-2* hsa-miR-922 hsa-miR-30c-1* hsa-miR-1264
    SwitchGear 3'UTR luciferase reporter plasmidPSENEN 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: PSENEN (NM_172341)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PSENEN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PSENEN

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PEN2_HUMAN, Q9NZ42: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus, Golgi stack
    membrane; Multi-pass membrane protein. Note=Predominantly located in the endoplasmic reticulum and in the
    cis-Golgi
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    plasma membrane4
    extracellular1
    lysosome1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA15274632
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005794Golgi apparatus IDA15274632
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IDA15274632

    Find genes that share ontologies with PSENEN           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PSENEN About   (see all 20)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Notch signaling pathway (KEGG)
    Notch signaling pathway0.84
    Signaling by NOTCH30.00
    Delta-Notch Signaling Pathway0.33
    Signaling by NOTCH40.00
    2Alzheimer's disease
    Alzheimers Disease0.44
    Alzheimer's disease0.44
    3Signaling by NOTCH1 PEST Domain Mutants in Cancer
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.79
    Signaling by NOTCH1 HD Domain Mutants in Cancer0.79
    Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.79
    Signaling by NOTCH1 in Cancer0.79
    Signaling by NOTCH1 t(7;9)(NOTCH1-M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH10.79
    FBXW7 Mutants and NOTCH1 in Cancer0.79
    4p75 NTR receptor-mediated signalling
    p75 NTR receptor-mediated signalling0.74
    Regulated proteolysis of p75NTR0.00
    Cell death signalling via NRAGE, NRIF and NADE0.74
    NRIF signals cell death from the nucleus0.00
    5Signaling by NOTCH2
    NOTCH2 Activation and Transmission of Signal to the Nucleus0.67
    Activated NOTCH1 Transmits Signal to the Nucleus0.61
    Signaling by NOTCH20.67


    Find genes that share SuperPaths with PSENEN           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for PSENEN
        A-beta Plaque Formation & APP Metabolism
    Notch Signaling Pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PSENEN
        Molecular Mechanisms of Cancer
    Presenilin-Mediated Signaling
    ErbB4 Pathway

    2 Cell Signaling Technology (CST) Pathways for PSENEN
        Wnt / Hedgehog / Notch
    Neuroscience

    1 Tocris Bioscience Pathway for PSENEN
        Notch Pathway

    3 GeneGo (Thomson Reuters) Pathways for PSENEN
        Development NOTCH1-mediated pathway for NF-KB activity modulation
    Development Notch Signaling Pathway
    Development MAG-dependent inhibition of neurite outgrowth

    Selected BioSystems Pathways for PSENEN (see all 6)
        Delta-Notch Signaling Pathway
    Alzheimers Disease
    Syndecan-3-mediated signaling events
    p75(NTR)-mediated signaling
    Presenilin action in Notch and Wnt signaling

    Selected Reactome Pathways for PSENEN (see all 9)
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    NRIF signals cell death from the nucleus
    Regulated proteolysis of p75NTR
    NOTCH2 Activation and Transmission of Signal to the Nucleus
    Signaling by NOTCH4


    2 Kegg Pathways  (Kegg details for PSENEN):
        Notch signaling pathway
    Alzheimer's disease

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PSENEN: 
              Stem Cell Signaling in human mouse rat
              Notch Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PSENEN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PSENEN (Q9NZ421, 2, 3 ENSP000002222664) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APH1AQ96BI32, 3, ENSP000003581054MINT-7025654 MINT-7025631 I2D: score=3 STRING: ENSP00000358105
    NCSTNQ925421, 2, 3, ENSP000002947854EBI-998468,EBI-998440 MINT-6174972 MINT-7025631 I2D: score=5 STRING: ENSP00000294785
    TMED10P497551, 3, ENSP000003031454EBI-998468,EBI-998422 I2D: score=2 STRING: ENSP00000303145
    PSEN1P497683, ENSP000003263664I2D: score=3 STRING: ENSP00000326366
    PSEN2P498103, ENSP000003557474I2D: score=2 STRING: ENSP00000355747
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006509membrane protein ectodomain proteolysis IDA15274632
    GO:0007219Notch signaling pathway TAS--
    GO:0007220Notch receptor processing TAS15274632
    GO:0016485protein processing IDA15274632
    GO:0031293membrane protein intracellular domain proteolysis TAS--

    Find genes that share ontologies with PSENEN           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
    Selected ApexBio Compounds for PSENEN (see all 17)     About this table
    CompoundAction CAS #
    Begacestatgamma-secretase inhibitor[769169-27-9]
    BMS 299897Orally active, potent gamma-secretase inhibitor[290315-45-6]
    BMS-708163 (Avagacestat)potent, selective an[1146699-66-2]
    Compound WInhibitor of gamma-secretase[173550-33-9]
    DAPT (GSI-IX)potent and specific inhibitor of gamma-secretase[208255-80-5]
    E 2012potent gamma-secretase modulator[870843-42-8]
    Flurizaninhibits gamma-secretase activity. [51543-40-9]
    JLK 6Inhibitor of gamma-secretase[62252-26-0]
    L-685,458Potent and selective gamma-secretase Inhibitor[292632-98-5]
    LY-411575selective, cell permeable, small molecule gamma secretase inhibitor[209984-57-6]

    Compounds for PSENEN available from Tocris Bioscience    About this table
    CompoundAction CAS #
    MRK 560gamma-secretase inhibitor; attenuates amyloid plaque deposition[677772-84-8]
    JLK 6Inhibitor of gamma-secretase-mediated betaAPP processing[62252-26-0]
    L-685,458 Potent and selective gamma-secretase inhibitor[292632-98-5]
    Begacestatgamma-secretase inhibitor; lowers Abeta40 and Abeta42 levels[769169-27-9]
    DAPTgamma-secretase inhibitor[208255-80-5]

    5 Novoseek inferred chemical compound relationships for PSENEN gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lactacystin 37.3 1 16302845 (1)
    molybdenum 23.7 4 16302845 (2), 17276981 (1)
    sterol 8.67 4 15537629 (1), 16234243 (1)
    lipid 1.33 3 19885829 (1), 15322084 (1), 15716592 (1)
    cholesterol 0 1 15322084 (1)



    Find genes that share compounds with PSENEN           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PSENEN gene (2 alternative transcripts): 
    NM_001281532.1  NM_172341.2  

    Unigene Cluster for PSENEN:

    Presenilin enhancer 2 homolog (C. elegans)
    Hs.534465  [show with all ESTs]
    Unigene Representative Sequence: BQ222622
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000587708 ENST00000591949 ENST00000222266(uc002obi.1 uc002obj.1 uc002obk.1)

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    hsa-miR-30c-2* hsa-miR-922 hsa-miR-30c-1* hsa-miR-1264
    SwitchGear 3'UTR luciferase reporter plasmidPSENEN 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PSENEN
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PSENEN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PSENEN
      QuantiTect SYBR Green Assays in human, mouse, rat PSENEN
      QuantiFast Probe-based Assays in human, mouse, rat PSENEN

    Additional mRNA sequence: 

    AF220053.1 AK312233.1 BC009575.1 

    10 DOTS entries:

    DT.97861002  DT.95188629  DT.444253  DT.95188632  DT.92432347  DT.92432351  DT.95188652  DT.95291566 
    DT.95188648  DT.121488830 

    Selected AceView cDNA sequences (see all 436):

    BU074254 BM931357 AV682591 BM354149 BM800240 BM851769 AA729144 BI793272 
    AI350950 BU783750 AB002302 Z39333 BU849201 BG740794 BC007353 BC009337 
    AL044104 BM750836 AI022687 BQ216452 CR612042 BM713215 AI804348 BU688310 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PSENEN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCCACGTTC
    PSENEN Expression
    About this image

    PSENEN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PSENEN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.534465

    UniProtKB/Swiss-Prot: PEN2_HUMAN, Q9NZ42
    Tissue specificity: Widely expressed. Expressed in leukocytes, lung, placenta, small intestine, liver, kidney,
    spleen thymus, skeletal muscle, heart and brain

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PSENEN: 
              Stem Cell Signaling in human mouse rat
              Notch Signaling Pathway in human mouse rat

    Primer
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PSENEN

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PSENEN gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Psenen1 , 5 presenilin enhancer 2 homolog (C. elegans)1, 5 91.09(n)1
    96.04(a)1
      7 (18.60 cM)5
    663401  NM_025498.21  NP_079774.11 
     305618685 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    84(a)
    1 → many
    GL343276.1(1481624-1484957)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia psenen1 presenilin enhancer gamma secretase subunit 71.29(n)
    71.29(a)
      549090  NM_001016336.2  NP_001016336.1 
    zebrafish
    (Danio rerio)
    Actinopterygii psenen1 presenilin enhancer 2 homolog 66.67(n)
    77(a)
      402810  NM_205576.1  NP_991139.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta pen-21 presenilin enhancer 64.33(n)
    61(a)
      251430  NM_176221.3  NP_788401.2 
    worm
    (Caenorhabditis elegans)
    Secernentea pen-21 pen-2 51.18(n)
    43.43(a)
      176565  NM_067058.4  NP_499459.1 


    ENSEMBL Gene Tree for PSENEN (if available)
    TreeFam Gene Tree for PSENEN (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PSENEN gene
    ENSG000001882232  

    Find genes that share paralogs with PSENEN           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PSENEN (see all 120)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs176388531,2
    C,F,H--36393362(+) GCTCAT/CCTGAG 1 -- us2k110Minor allele frequency- C:0.05NA NS EA EU 1107
    rs1394929531,2
    C,F--36393437(+) CCCCGC/ACCATA 1 -- us2k12Minor allele frequency- A:0.00NA EU 5109
    rs2000680811,2
    C--36393482(+) AGATGA/CATGAA 1 -- us2k10--------
    rs1384098671,2
    C--36393646(+) CAGCAG/TGACTC 1 -- us2k10--------
    rs2009759761,2
    C--36393671(+) CAGGAC/GACAGC 1 -- us2k10--------
    rs1427418901,2
    C--36393731(+) CGGCCC/TGCTCT 1 -- us2k11Minor allele frequency- G:0.00NA 4552
    rs1928507551,2
    C--36393738(+) CTCTCC/TATCCT 1 -- us2k10--------
    rs1473719971,2
    C,F--36393794(+) AACTCA/GGAGAT 1 -- us2k11Minor allele frequency- G:0.02EU 1319
    rs1395756761,2
    C,F--36393970(+) CCAAGG/CTTGTC 1 -- us2k11Minor allele frequency- C:0.00NA 4552
    rs2003476481,2
    C--36393975(+) GTTGTC/TGCACA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PSENEN (36236015 - 36237911 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PSENEN:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3853n71CNV Loss21882294
    dgv3852n71CNV Loss21882294
    nsv515536CNV Loss19592680

    Human Gene Mutation Database (HGMD): PSENEN
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PSENEN
    DNA2.0 Custom Variant and Variant Library Synthesis for PSENEN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607632   
    OMIM disorders: 613736  
    UniProtKB/Swiss-Prot: PEN2_HUMAN, Q9NZ42
  • Acne inversa, familial, 2 (ACNINV2) [MIM:613736]: A chronic relapsing inflammatory disease of the hair
    follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars.
    Manifestations typically appear after puberty. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 9 diseases for PSENEN:    
    About MalaCards
    hidradenitis    acne inversa, familial, 2    pain agnosia    hidradenitis suppurativa
    shipyard eye    acne    agnosia    otospondylomegaepiphyseal dysplasia
    alzheimer's disease

    5 diseases from the University of Copenhagen DISEASES database for PSENEN:
    Pain agnosia     Shipyard eye     Alzheimer's disease     Hidradenitis suppurativa
    Neuroblastoma

    Find genes that share disorders with PSENEN           About GenesLikeMe

    4 Novoseek inferred disease relationships for PSENEN gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 78.9 16 14745076 (2), 17668005 (1), 18834861 (1), 19595943 (1) (see all 11)
    senile plaques 72.8 4 17668005 (1), 16938437 (1), 19889971 (1), 17588625 (1)
    neurodegenerative diseases 0.753 1 18220828 (1)
    dementia 0 1 19595943 (1)

    Genetic Association Database (GAD): PSENEN
    Human Genome Epidemiology (HuGE) Navigator: PSENEN (3 documents)

    Export disorders for PSENEN gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PSENEN gene, integrated from 10 sources (see all 167):
    (articles sorted by number of sources associating them with PSENEN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. aph-1 and pen-2 are required for Notch pathway signaling, gamma- secretase cleavage of betaAPP, and presenilin protein accumulation. (PubMed id 12110170)1, 2, 3 Francis R....Curtis D. (Dev. Cell 2002)
    2. Membrane topology of gamma-secretase component PEN-2. (PubMed id 12639958)1, 2, 9 Crystal A.S.... Doms R.W. (J. Biol. Chem. 2003)
    3. PEN-2 and APH-1 coordinately regulate proteolytic processing of presenilin 1. (PubMed id 12522139)1, 2, 9 Luo W.-J.... Xu H. (J. Biol. Chem. 2003)
    4. PEN-2 is an integral component of the gamma-secretase complex required for coordinated expression of presenilin and nicastrin. (PubMed id 12198112)1, 2, 9 Steiner H.... Haass C. (J. Biol. Chem. 2002)
    5. Genetic association between polymorphisms of Pen2 gene and late onset Alzheimer's disease in the North Chinese population. (PubMed id 17280645)1, 4, 9 Jia L....Jia J. (Brain Res. 2007)
    6. APH1, PEN2, and nicastrin increase Abeta levels and gamma-secretase activity. (PubMed id 12763021)1, 2, 9 Marlow L....Sambamurti K. (Biochem. Biophys. Res. Commun. 2003)
    7. Gamma-secretase is a membrane protein complex comprised of presenilin, nicastrin, Aph-1, and Pen-2. (PubMed id 12740439)1, 2, 9 Kimberly W.T....Selkoe D.J. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    8. Reconstitution of gamma-secretase activity. (PubMed id 12679784)1, 2, 9 Edbauer D.... Haass C. (Nat. Cell Biol. 2003)
    9. Gamma-secretase gene mutations in familial acne inversa. (PubMed id 20929727)1, 2 Wang B.... Zhang X. (Science 2010)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55851 HGNC: 30100 AceView: MLL4andF25965andPEN2 Ensembl:ENSG00000205155 euGenes: HUgn55851
    ECgene: PSENEN Kegg: 55851 H-InvDB: PSENEN

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PSENEN Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PSENEN gene:
    Search GeneIP for patents involving PSENEN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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