Gene: PSEN2

5664
AD3L|AD4|CMD1V|PS2|STM2
presenilin 2
protein-coding
1q42.13
Ensembl:ENSG00000143801 MIM:600759 Vega:OTTHUMG00000037563 UniprotKB:P49810
NG_007381.1
PubMed
0   ANCO-SNPs
ND
2   
NA (AD)  NA (ND)   (Frontal_Cortex)
4.628e-1 (AD)  9.601e-1 (ND)

DNA Methylation

There is no related methylation information for this gene.

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
DHDDS0.932
ACP20.929
GALNT110.925
PSPC10.923
MECR0.918
AAGAB0.915
NIPSNAP10.914
UBLCP10.911
GSS0.911
AARSD10.911

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
OR4F5-0.552
OR4F29-0.511
MTRNR2L6-0.459
MTRNR2L9-0.447
MTRNR2L10-0.406
PPBP-0.398
YES1-0.38
RAI14-0.38
CSAG1-0.379
KCNE4-0.377

Drugs/Compounds

    There is no DrugBank record for this gene !

ID Drug Name Action PubMed
C0284741,4-bis(2-(3,5-dichloropyridyloxy))benzene"1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in decreased expression of PSEN2 mRNA"21354444|2527062
C49562614-deoxy-11,12-didehydroandrographolide"14-deoxy-11,12-didehydroandrographolide results in decreased expression of PSEN2 mRNA"22101062
C5321622-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine"[PIK3CA gene mutant form results in increased susceptibility to 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine] which results in decreased expression of PSEN2 mRNA"20453058
C0235142,6-dinitrotoluene"2,6-dinitrotoluene affects the expression of PSEN2 mRNA"21346803
D000082AcetaminophenAcetaminophen affects the expression of PSEN2 mRNA17562736
D000082Acetaminophen[Clofibrate co-treated with Acetaminophen] affects the expression of PSEN2 mRNA17585979
D000082AcetaminophenPPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of PSEN2 mRNA]17585979
D020106AcrylamideAcrylamide results in decreased expression of PSEN2 mRNA28959563
D016604Aflatoxin B1Aflatoxin B1 results in decreased expression of PSEN2 mRNA19770486
D000452AldrinAldrin results in increased expression of PSEN2 mRNA18579281
C010845aluminum chloridealuminum chloride results in decreased expression of PSEN2 mRNA28552514
C010845aluminum chlorideGenistein inhibits the reaction [aluminum chloride results in decreased expression of PSEN2 mRNA]28552514
C010845aluminum chloridePlant Extracts inhibits the reaction [aluminum chloride results in decreased expression of PSEN2 protein]28552514
D000643Ammonium ChlorideAmmonium Chloride affects the expression of PSEN2 mRNA16483693
D001564Benzo(a)pyreneBenzo(a)pyrene affects the expression of PSEN2 mRNA22342234
D004958EstradiolEstradiol results in increased expression of PSEN2 mRNA23019147
D004958Estradiol[Estradiol results in increased phosphorylation of and results in increased activity of ESR1 protein] which results in increased expression of PSEN2 mRNA24586459
C006780bisphenol Abisphenol A affects the expression of PSEN2 mRNA21786754
C006780bisphenol A[bisphenol A results in increased phosphorylation of and results in increased activity of ESR1 protein] which results in increased expression of PSEN2 mRNA24586459
C006780bisphenol Abisphenol A affects the expression of PSEN2 mRNA21786754
C006780bisphenol Abisphenol A results in increased expression of PSEN2 mRNA25181051
D002118CalciumPSEN2 gene mutant form promotes the reaction [TRPM7 protein affects the transport of Calcium]22102510
D002122Calcium ChlorideCalcium Chloride results in increased expression of PSEN2 protein25824407
D002251Carbon TetrachlorideCarbon Tetrachloride results in decreased expression of PSEN2 mRNA27339419
D002251Carbon TetrachlorideCarbon Tetrachloride results in decreased expression of PSEN2 mRNA17805973
D002994Clofibrate[Clofibrate co-treated with Acetaminophen] affects the expression of PSEN2 mRNA17585979
D002994ClofibratePPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of PSEN2 mRNA]17585979
C018021cobaltous chloridecobaltous chloride results in decreased expression of PSEN2 mRNA19376846
D019327Copper SulfateCopper Sulfate results in increased expression of PSEN2 mRNA18579281
D003907DexamethasoneDexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of PSEN2 mRNA]27941970
D003993Dibutyl PhthalateDibutyl Phthalate results in increased expression of PSEN2 mRNA21266533
D004147DioxinsDioxins affects the expression of PSEN2 mRNA20463971
D004050DitiocarbDitiocarb inhibits the reaction [[Lipopolysaccharides co-treated with IFNG protein] results in increased expression of PSEN2 mRNA]28242320
D004785Environmental PollutantsEnvironmental Pollutants results in increased expression of PSEN2 mRNA20064776
D005485FlutamideFlutamide results in increased expression of PSEN2 mRNA21126777
D005485FlutamideFlutamide results in decreased expression of PSEN2 mRNA24793618
D019833GenisteinGenistein inhibits the reaction [aluminum chloride results in decreased expression of PSEN2 mRNA]28552514
D017313FenretinideFenretinide results in decreased expression of PSEN2 mRNA28973697
D015759Ionomycin[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of PSEN2 mRNA25613284
C098607JP8 aviation fuelJP8 aviation fuel affects the expression of PSEN2 mRNA15182950
D008070LipopolysaccharidesDitiocarb inhibits the reaction [[Lipopolysaccharides co-treated with IFNG protein] results in increased expression of PSEN2 mRNA]28242320
D008070Lipopolysaccharides[Lipopolysaccharides co-treated with IFNG protein] results in increased expression of PSEN2 mRNA28242320
D008070Lipopolysaccharidespimagedine inhibits the reaction [[Lipopolysaccharides co-treated with IFNG protein] results in increased expression of PSEN2 mRNA]28242320
D008070LipopolysaccharidesLipopolysaccharides results in decreased expression of PSEN2 mRNA12057914
D008070LipopolysaccharidesLipopolysaccharides results in decreased expression of PSEN2 mRNA25613284
D018817N-Methyl-3,4-methylenedioxyamphetamine"N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of PSEN2 mRNA"20188158
D0156551-Methyl-4-phenylpyridinium1-Methyl-4-phenylpyridinium results in increased expression of PSEN2 mRNA26558463
C583365N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide"N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in decreased expression of PSEN2 mRNA"29244179
D019810Sodium AzideSodium Azide results in decreased expression of PSEN2 mRNA12938025
D037742Nanotubes, Carbon"Nanotubes, Carbon analog results in decreased expression of PSEN2 mRNA"25620056
D037742Nanotubes, Carbon"Nanotubes, Carbon results in decreased expression of PSEN2 mRNA"25620056
C005273naringenin[naringenin results in increased phosphorylation of and results in increased activity of ESR1 protein] which results in increased expression of PSEN2 mRNA24586459
C012655nimesulidenimesulide results in decreased activity of PSEN2 protein mutant form16331303
C014707nitrosobenzylmethylaminenitrosobenzylmethylamine results in decreased expression of PSEN2 mRNA17616710
D010100OxygenOxygen deficiency affects the expression of PSEN2 mRNA17963755
D010126OzoneOzone results in decreased expression of PSEN2 mRNA16330353
D015232Dinoprostone[PSEN2 protein mutant form results in increased expression of PTGS2 protein] which results in increased abundance of Dinoprostone16331303
D010634PhenobarbitalPhenobarbital results in increased expression of PSEN2 mRNA12807726
C121565pifithrinpifithrin inhibits the reaction [PSEN2 protein mutant form promotes the reaction [Staurosporine results in increased activity of CASP3 protein]]12556443
C004479pimagedinepimagedine inhibits the reaction [[Lipopolysaccharides co-treated with IFNG protein] results in increased expression of PSEN2 mRNA]28242320
C006253pirinixic acid[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of PSEN2 mRNA19710929
C006253pirinixic acidpirinixic acid results in decreased expression of PSEN2 mRNA18445702
C006253pirinixic acidpirinixic acid results in decreased expression of PSEN2 mRNA19162173
D010936Plant ExtractsPlant Extracts results in decreased expression of PSEN2 mRNA21920417
D010936Plant ExtractsPlant Extracts inhibits the reaction [aluminum chloride results in decreased expression of PSEN2 protein]28552514
D011285Pregnenolone CarbonitrilePregnenolone Carbonitrile results in decreased expression of PSEN2 mRNA28903501
C059514resveratrolresveratrol results in decreased expression of PSEN2 protein11606380
C009166retinol acetateretinol acetate results in increased expression of PSEN2 mRNA16772331
D012524SarinSarin results in decreased expression of PSEN2 mRNA19522546
D012601Scopolamine HydrobromideScopolamine Hydrobromide results in decreased expression of PSEN2 mRNA12818353
D012834SilverSilver results in decreased expression of PSEN2 mRNA27131904
D019311Staurosporinepifithrin inhibits the reaction [PSEN2 protein mutant form promotes the reaction [Staurosporine results in increased activity of CASP3 protein]]12556443
D019311StaurosporinePSEN2 protein mutant form promotes the reaction [Staurosporine results in increased activity of CASP3 protein]12556443
D019311StaurosporineStaurosporine promotes the reaction [PSEN2 protein mutant form results in increased expression of APP protein]12556443
D013654TaurineTaurine results in decreased expression of PSEN2 mRNA16579726
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin affects the expression of PSEN2 mRNA21570461
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin results in decreased expression of PSEN2 mRNA28922406
D013755Tetradecanoylphorbol Acetate[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of PSEN2 mRNA25613284
D014635Valproic AcidValproic Acid results in increased expression of PSEN2 mRNA23179753
D014635Valproic AcidValproic Acid affects the expression of PSEN2 mRNA17292431
D001335Vehicle EmissionsVehicle Emissions results in decreased methylation of PSEN2 gene25560391

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0004175endopeptidase activity-IBA21873635  
GO:0004190aspartic-type endopeptidase activity-TAS-  
GO:0005515protein binding-IPI9437013  10366599  10369872  10446169  10748169  11001931  
11076969  12297508  21163940  
GO:0042500aspartic endopeptidase activity, intramembrane cleaving-IEA-  
GO ID GO Term Qualifier Evidence PubMed
GO:0001666response to hypoxia-IEA-  
GO:0006509membrane protein ectodomain proteolysis-IBA21873635  
GO:0006509membrane protein ectodomain proteolysis-IDA15274632  
GO:0006816calcium ion transport-IBA21873635  
GO:0007219Notch signaling pathway-TAS-  
GO:0007220Notch receptor processing-IBA21873635  
GO:0007220Notch receptor processing-TAS15274632  
GO:0016485protein processing-IDA15274632  
GO:0035333Notch receptor processing, ligand-dependent-TAS-  
GO:0035556intracellular signal transduction-IEA-  
GO:0042987amyloid precursor protein catabolic process-IBA21873635  
GO:0042987amyloid precursor protein catabolic process-TAS15274632  
GO:0043066negative regulation of apoptotic process-IBA21873635  
GO:0043085positive regulation of catalytic activity-IDA15274632  
GO:0050435amyloid-beta metabolic process-IBA21873635  
GO ID GO Term Qualifier Evidence PubMed
GO:0000139Golgi membrane-IEA-  
GO:0000776kinetochore-IDA9298903  
GO:0005634nucleus-IBA21873635  
GO:0005637nuclear inner membrane-IDA9298903  
GO:0005743mitochondrial inner membrane-IBA21873635  
GO:0005765lysosomal membrane-IBA21873635  
GO:0005783endoplasmic reticulum-IDA15274632  
GO:0005789endoplasmic reticulum membrane-IEA-  
GO:0005794Golgi apparatus-IDA15274632  
GO:0005813centrosome-IDA9298903  
GO:0005886plasma membrane-TAS-  
GO:0005887integral component of plasma membrane-IBA21873635  
GO:0005887integral component of plasma membrane-IDA15274632  
GO:0005938cell cortex-IBA21873635  
GO:0009986cell surface-IBA21873635  
GO:0016020membrane-HDA19946888  
GO:0016324apical plasma membrane-IBA21873635  
GO:0030018Z disc-IBA21873635  
GO:0030424axon-IBA21873635  
GO:0030426growth cone-IBA21873635  
GO:0031594neuromuscular junction-IBA21873635  
GO:0032991protein-containing complex-IDA9632714  
GO:0035253ciliary rootlet-IBA21873635  
GO:0043025neuronal cell body-IBA21873635  
GO:0043198dendritic shaft-IBA21873635  
GO:0045121membrane raft-IBA21873635  
GO:0048471perinuclear region of cytoplasm-IBA21873635  
KEGG ID KEGG Term
hsa04330Notch signaling pathway
hsa04722Neurotrophin signaling pathway
hsa05010Alzheimer's disease
Reactome ID Reactome Term Evidence
R-HSA-1236394Signaling by ERBB4TAS
R-HSA-1251985Nuclear signaling by ERBB4TAS
R-HSA-1266738Developmental BiologyTAS
R-HSA-157118Signaling by NOTCHIEA
R-HSA-157118Signaling by NOTCHTAS
R-HSA-162582Signal TransductionIEA
R-HSA-162582Signal TransductionTAS
R-HSA-1643685DiseaseTAS
R-HSA-193692Regulated proteolysis of p75NTRTAS
R-HSA-193704p75 NTR receptor-mediated signallingTAS
R-HSA-1980143Signaling by NOTCH1IEA
R-HSA-1980145Signaling by NOTCH2IEA
R-HSA-1980150Signaling by NOTCH4TAS
R-HSA-204998Cell death signalling via NRAGE, NRIF and NADETAS
R-HSA-205043NRIF signals cell death from the nucleusTAS
R-HSA-2122948Activated NOTCH1 Transmits Signal to the NucleusIEA
R-HSA-2644602Signaling by NOTCH1 PEST Domain Mutants in CancerTAS
R-HSA-2644603Signaling by NOTCH1 in CancerTAS
R-HSA-2644606Constitutive Signaling by NOTCH1 PEST Domain MutantsTAS
R-HSA-2682334EPH-Ephrin signalingTAS
R-HSA-2894858Signaling by NOTCH1 HD+PEST Domain Mutants in CancerTAS
R-HSA-2894862Constitutive Signaling by NOTCH1 HD+PEST Domain MutantsTAS
R-HSA-2979096NOTCH2 Activation and Transmission of Signal to the NucleusIEA
R-HSA-3928665EPH-ephrin mediated repulsion of cellsTAS
R-HSA-422475Axon guidanceTAS
R-HSA-5663202Diseases of signal transductionTAS
R-HSA-73887Death Receptor SignallingTAS
R-HSA-9006934Signaling by Receptor Tyrosine KinasesTAS
R-HSA-9012852Signaling by NOTCH3TAS
R-HSA-9013507NOTCH3 Activation and Transmission of Signal to the NucleusTAS
R-HSA-9017802Noncanonical activation of NOTCH3TAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID Title (Year) Author Journal
23919770Epidemiology and etiology of Alzheimer's disease: from genetic to non-genetic factors. (2013 Oct)Jiang TCurr Alzheimer Res
25424692Cigarette smoking reduces DNA methylation levels at multiple genomic loci but the effect is partially reversible upon cessation. (2014 Oct)Tsaprouni LGEpigenetics