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    PSEN2 presenilin 2 (Alzheimer disease 4) [ Homo sapiens ]

    Gene ID: 5664, updated on 19-May-2012
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    Summary

    Official Symbol
    PSEN2provided by HGNC
    Official Full Name
    presenilin 2 (Alzheimer disease 4)provided by HGNC
    Primary source
    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]
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    Genomic context

    Location :
    1q31-q42
    Sequence :
    Chromosome: 1; NC_000001.10 (227058273..227083804)
    See PSEN2 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene ITPKB intronic transcript 1 (non-protein coding) Neighboring gene inositol-trisphosphate 3-kinase B Neighboring gene ribosomal protein S27 pseudogene 5 Neighboring gene aarF domain containing kinase 3 Neighboring gene CDC42 binding protein kinase alpha (DMPK-like) Neighboring gene cathepsin B pseudogene

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Mutant presenilin 2 increases β-secretase activity through reactive oxygen species-dependent activation of extracellular signal-regulated kinase. Park MH, et al. J Neuropathol Exp Neurol, 2012 Feb. PMID 22249458.
    2. Comparison of presenilin 1 and presenilin 2 γ-secretase activities using a yeast reconstitution system. Yonemura Y, et al. J Biol Chem, 2011 Dec 30. PMID 22074918.
    3. Polar transmembrane-based amino acids in presenilin 1 are involved in endoplasmic reticulum localization, Pen2 protein binding, and γ-secretase complex stabilization. Fassler M, et al. J Biol Chem, 2011 Nov 4. PMID 21914807.
    4. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    5. Genetics of Alzheimer's disease: an insight into presenilins and apolipoprotein E instigated neurodegeneration. Obulesu M, et al. Int J Neurosci, 2011 May. PMID 21545304.

    See all (154) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. PSEN2 Arg62His mutation may lead to a phenotypic heterogeneity presenting either as Alzheimer's disease or Lewy body dementia.
      Title: Presenilin-2 gene mutation presenting as Lewy body dementia?
    2. [review] The role of presenilin 2 in general physiology and Alzheimer's disease pathology due to its mutation are discussed.
      Title: Genetics of Alzheimer's disease: an insight into presenilins and apolipoprotein E instigated neurodegeneration.
    3. One distinct haploblock in PSEN2 was detected and the frequent haplotypes were analyzed using 4 tagging single nucleotide polymorphisms
      Title: Genetic variants in PSEN2 and correlation to CSF β-amyloid42 levels in AD.
    4. The results of this study suggested that oxidative stress-mediated ERK activation contributes to increases in beta-secretase and, thus, an increase of Abeta generation in neuronal cells expressing mutant PS2.
      Title: Mutant presenilin 2 increases β-secretase activity through reactive oxygen species-dependent activation of extracellular signal-regulated kinase.
    5. the PS1 complex is only marginally less active than the PS2 complex in Abeta production.
      Title: Comparison of presenilin 1 and presenilin 2 γ-secretase activities using a yeast reconstitution system.
    6. Polar transmembrane-based amino acids in presenilin 1 are involved in endoplasmic reticulum localization, Pen2 protein binding, and gamma-secretase complex stabilization
      Title: Polar transmembrane-based amino acids in presenilin 1 are involved in endoplasmic reticulum localization, Pen2 protein binding, and γ-secretase complex stabilization.
    7. Presenilin-2 dampens intracellular Ca2+ stores by increasing Ca2+ leakage and reducing Ca2+ uptake
      Title: Presenilin-2 dampens intracellular Ca2+ stores by increasing Ca2+ leakage and reducing Ca2+ uptake.
    8. The PS2 mutation causes early cerebral amyloid accumulation and memory dysfunction.
      Title: Presenilin-2 mutation causes early amyloid accumulation and memory impairment in a transgenic mouse model of Alzheimer's disease.
    9. familial Alzheimer disease presenilin 2 protein interactions with InsP(3) receptor causes exaggerated calcium signaling that may contribute to the disease pathology by enhanced generation or reactive oxygen species
      Title: Enhanced ROS generation mediated by Alzheimer's disease presenilin regulation of InsP3R Ca2+ signaling.
    10. Presenilin 2 modulates endoplasmic reticulum-mitochondria interactions and Ca2+ cross-talk.
      Title: Presenilin 2 modulates endoplasmic reticulum (ER)-mitochondria interactions and Ca2+ cross-talk.
    Submit: New GeneRIF Correction See all (79)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Alzheimer disease-4

    Cardiomyopathy, dilated, 1V

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P49810 Q96BI3 APH1A    HPRD  PubMed  
    P49810 Q8WW43 APH1B    HPRD  PubMed  
    P49810 P05067 APP    HPRD  PubMed  
    P49810 Q07817 BCL2L1    HPRD  PubMed  
    P49810 P07384 CAPN1    HPRD  PubMed  
    P49810 P29466 CASP1    HPRD  PubMed  
    P49810 P42574 CASP3    HPRD  PubMed  
    P49810 P55212 CASP6    HPRD  PubMed  
    P49810 P55210 CASP7    HPRD  PubMed  
    P49810 Q14790 CASP8    HPRD  PubMed  
    P49810 O15519 CFLAR    HPRD  PubMed  
    P49810 Q99828 CIB1    HPRD  PubMed  
    P49810 P48729 CSNK1A1    HPRD  PubMed  
    P49810 P48730 CSNK1D    HPRD  PubMed  
    P49810 P68400 CSNK2A1    HPRD  PubMed  
    P49810 P35222 CTNNB1    HPRD  PubMed  
    P49810 Q9UQB3 CTNND2    HPRD  PubMed  
    P49810 Q8IZD9 DOCK3    HPRD  PubMed  
    P49810 Q14192 FHL2    HPRD  PubMed  
    P49810 P21333 FLNA    HPRD  PubMed  
    P49810 O75369 FLNB    HPRD  PubMed  
    P49810 Q9UMF0 ICAM5    HPRD  PubMed  
    P49810 Q9Y2W7 KCNIP3    HPRD  PubMed  
    P49810 Q6PIL6 KCNIP4    HPRD  PubMed  
    P49810 Q96IZ6 METTL2A    HPRD  PubMed  
    P49810 Q92542 NCSTN    HPRD  PubMed  
    P49810 P46531 NOTCH1    HPRD  PubMed  
    P49810 Q04721 NOTCH2    HPRD  PubMed  
    P49810 Q9UM47 NOTCH3    HPRD  PubMed  
    P49810 Q99466 NOTCH4    HPRD  PubMed  
    P49810 Q9NZ42 PSENEN    HPRD  PubMed  
    P49810 P62491 RAB11A    HPRD  PubMed  
    P49810 P30626 SRI    HPRD  PubMed  
    P49810 Q9UMX0 UBQLN1    HPRD  PubMed  
    BioGRID:111643 BioGRID:106817 APBA1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111643 BioGRID:106818 APBA2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111643 BioGRID:114920 APBA3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111643 BioGRID:119296 APH1A    BioGRID  PubMed Affinity Capture-Western 
    NP_958816.1 APP    BIND  PubMed PS2 interacts with APP. 
    BioGRID:111643 BioGRID:107070 BCL2L1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:111643 BioGRID:107273 CAPN1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:111643 BioGRID:115774 CIB1    BioGRID  PubMed Phenotypic Enhancement; Reconstituted Complex; Two-hybrid 
    BioGRID:111643 BioGRID:108565 FHL2    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:111643 BioGRID:108606 FLNB    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:111643 BioGRID:108938 GFAP    BioGRID  PubMed Two-hybrid 
    BioGRID:111643 BioGRID:112942 ICAM5    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111643 BioGRID:119042 KCNIP3    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:111643 BioGRID:123244 KCNIP4    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:111643 BioGRID:116961 NCSTN    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111643 BioGRID:111642 PSEN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111643 BioGRID:120953 PSENEN    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111643 BioGRID:112595 SRI    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111643 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:111643 BioGRID:119007 UBQLN1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystem (from REACTOME)
      Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystemMature NOTCH1 heterodimer on the cell surface is activated by one of its ligands: DLL1 (Cordle et al. 2008, Jarriault et al. 1998), DLL4 (Benedito et al. 2009), JAG1 (Li et al. 1998, Benedito et al. ...
    • Alzheimer's disease, organism-specific biosystem (from KEGG)
      Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimer's disease, conserved biosystem (from KEGG)
      Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystem (from REACTOME)
      Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystemp75NTR is a key regulator of neuronal apoptosis, both during development and after injury. Apoptosis is triggered by binding of either mature neurotrophin or proneurotrophin (proNGF, proBDNF). ProNG...
    • Delta-Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Delta-Notch Signaling Pathway, organism-specific biosystemThere are 4 Notch receptors in humans (Notch 1-4) that bind to a family of 5 ligands (Jagged 1 and 2 and Delta-like 1-3). The Notch receptors are expressed on the cell surface as heterodimeric protei...
    • LKB1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      LKB1 signaling events, organism-specific biosystem
      LKB1 signaling events
    • NRIF signals cell death from the nucleus, organism-specific biosystem (from REACTOME)
      NRIF signals cell death from the nucleus, organism-specific biosystemNRIF (nuclear receptor-interacting factor) is a DNA binding protein that is essential for p75-mediated apoptosis in retina and sympathetic neurons. Neurotrophin or proneurotrophin binding to p75TR in...
    • Neurotrophin signaling pathway, organism-specific biosystem (from KEGG)
      Neurotrophin signaling pathway, organism-specific biosystemNeurotrophins are a family of trophic factors involved in differentiation and survival of neural cells. The neurotrophin family consists of nerve growth factor (NGF), brain derived neurotrophic facto...
    • Neurotrophin signaling pathway, conserved biosystem (from KEGG)
      Neurotrophin signaling pathway, conserved biosystemNeurotrophins are a family of trophic factors involved in differentiation and survival of neural cells. The neurotrophin family consists of nerve growth factor (NGF), brain derived neurotrophic facto...
    • Notch signaling pathway, organism-specific biosystem (from KEGG)
      Notch signaling pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Notch signaling pathway, conserved biosystem (from KEGG)
      Notch signaling pathway, conserved biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Nuclear signaling by ERBB4, organism-specific biosystem (from REACTOME)
      Nuclear signaling by ERBB4, organism-specific biosystemBesides signaling as a transmembrane receptor, ligand activated homodimers of ERBB4 JM-A isoforms (ERBB4 JM-A CYT1 and ERBB4 JM-A CYT2) undergo proteolytic cleavage by ADAM17 (TACE) in the juxtamembr...
    • Regulated proteolysis of p75NTR, organism-specific biosystem (from REACTOME)
      Regulated proteolysis of p75NTR, organism-specific biosystemp75NTR undergoes a process of regulated intramembrane proteolysis (RIP) similar to other transmembrane proteins such as NOTCH, beta-amyloid precursor protein (APP), and ERBB4. Each of these proteins ...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by ERBB4, organism-specific biosystem (from REACTOME)
      Signaling by ERBB4, organism-specific biosystemERBB4, also known as HER4, belongs to the ERBB family of receptors, which also includes ERBB1 (EGFR i.e. HER1), ERBB2 (HER2 i.e. NEU) and ERBB3 (HER3). Similar to EGFR, ERBB4 has an extracellular lig...
    • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
    • Signaling by NOTCH1, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1, organism-specific biosystemNOTCH1 functions as both a transmembrane receptor presented on the cell surface and as a transcriptional regulator in the nucleus.NOTCH1 receptor presented on the plasma membrane is activated by a me...
    • Signaling by NOTCH2, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH2, organism-specific biosystemSimilar to NOTCH1, NOTCH2 is activated by delta-like and jagged ligands (DLL/JAG) expressed in trans on a neighboring cell. The activation triggers cleavage of NOTCH2, first by ADAM10 at the S2 cleav...
    • Signaling by NOTCH3, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH3, organism-specific biosystemSimilar to NOTCH1, NOTCH3 is activated by delta-like and jagged ligands (DLL/JAG) expressed in trans on a neighboring cell. The activation triggers cleavage of NOTCH3, first by ADAM10 at the S2 cleav...
    • Signaling by NOTCH4, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH4, organism-specific biosystemSimilar to NOTCH1, NOTCH4 is activated by delta-like and jagged ligands (DLL/JAG) expressed in trans on a neighboring cell. The activation triggers cleavage of NOTCH4, first by ADAM10 at the S2 cleav...
    • Signalling by NGF, organism-specific biosystem (from REACTOME)
      Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
    • p75 NTR receptor-mediated signalling, organism-specific biosystem (from REACTOME)
      p75 NTR receptor-mediated signalling, organism-specific biosystemBesides signalling through the tyrosine kinase receptors TRK A, B, and C, the mature neurotrophins NGF, BDNF, and NT3/4 signal through their common receptor p75NTR. NGF binding to p75NTR activates a ...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    aspartic-type endopeptidase activity TAS
    Traceable Author Statement
    more info
    		  
    endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    endopeptidase activity TAS
    Traceable Author Statement
    more info
    		  
    peptidase activity TAS
    Traceable Author Statement
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    Notch receptor processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    amyloid precursor protein catabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    anagen IEA
    Inferred from Electronic Annotation
    more info
    		  
    anti-apoptosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    apoptotic process 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 death 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
    		  
    embryo development IEA
    Inferred from Electronic Annotation
    more info
    		  
    embryonic limb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    forebrain development IEA
    Inferred from Electronic Annotation
    more info
    		  
    hair follicle development IEA
    Inferred from Electronic Annotation
    more info
    		  
    hemopoietic progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    induction of apoptosis by extracellular signals TAS
    Traceable Author Statement
    more info
    		  
    intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    locomotion 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 epidermal growth factor-activated receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of ubiquitin-protein ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    nerve growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    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
    		  
    positive regulation of proteasomal ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of receptor recycling 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
    		  
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of synaptic plasticity IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
    		  
    skin morphogenesis 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 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 to 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 fraction IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 
    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 
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    General protein information

    Preferred Names
    presenilin-2
    Names
    presenilin-2
    AD5
    E5-1
    PS-2
    AD3LP
    STM-2
    NP_000438.2
    NP_036618.2
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    NCBI Reference Sequences (RefSeq)

    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_000447.2 → NP_000438.2  presenilin-2 isoform 1

      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
      cl01342
      Location:76 – 439
      Blast Score: 1146
      Peptidase_A22B; Signal peptide peptidase

    2. NM_012486.2 → NP_036618.2  presenilin-2 isoform 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
      cl01342
      Location:76 – 438
      Blast Score: 1132
      Peptidase_A22B; Signal peptide peptidase

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      227058273..227083804
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      197575178..197600711
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL359732.12 (85771..93425) None
    genomic AL391628.18 CAH73110.1
      CAH73111.1
    genomic AL391628.18 CAH73110.1
      CAH73111.1
    genomic CH471098.1 EAW69796.1
      EAW69797.1
      EAW69798.1
      EAW69799.1
      EAW69800.1
    genomic U50871.1 AAB50054.1
    mRNA AF416718.1 AAL16812.1
    mRNA AI091221.1 None
    mRNA AK292299.1 BAF84988.1
    mRNA AK301143.1 BAG62735.1
    mRNA BC006365.2 AAH06365.1
    mRNA BT006984.1 AAP35630.1
    mRNA DA198818.1 None
    mRNA DA915823.1 None
    mRNA L43964.1 AAB59557.1
    mRNA L44577.1 AAC42012.1
    mRNA U34349.1 AAC50290.1
    other-genetic DQ890646.2 ABM81572.1
    other-genetic DQ893826.2 ABM84752.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P49810.1 GenPept UniProtKB/Swiss-Prot:P49810
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