AutismKB 2.0

Annotation Detail for PSEN2


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Basic Information Top
Gene Symbol:PSEN2 ( AD3L,AD4,PS2,STM2 )
Gene Full Name: presenilin 2 (Alzheimer disease 4)
Band: 1q42.13
Quick LinksEntrez ID:5664; OMIM: 600759; Uniprot ID:PSN2_HUMAN; ENSEMBL ID: ENSG00000143801; HGNC ID: 9509
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05010Alzheimer's disease
hsa04722Neurotrophin signaling pathway
hsa04330Notch signaling pathway
Pathway IDPathway Name
Signalling by NGF
Signaling by Notch
Pathway IDPathway Name
200061LKB1 signaling events
Pathway IDPathway Name
P00003Alzheimer disease-amyloid secretase pathway
P00004Alzheimer disease-presenilin pathway
P00045Notch signaling pathway
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Nervous system diseases
Neurodegenerative diseases
H00056Alzheimer's disease
No data
Desease Name
Alzheimer's disease
NEUROLOGICAL
No data
Desease Name
Alzheimer disease-4
Cardiomyopathy, dilated, 1V
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of PSEN2 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of PSEN2 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PSEN2 mRNAaffects expression 16483693
D002251 Carbon Tetrachloride Carbon Tetrachloride results in decreased expression of PSEN2 mRNAdecreases expression 17805973
D008070 Lipopolysaccharides Lipopolysaccharides results in decreased expression of PSEN2 mRNAdecreases expression 12057914
D019810 Sodium Azide Sodium Azide results in decreased expression of PSEN2 mRNAdecreases expression 12938025
C014707 nitrosobenzylmethylamine nitrosobenzylmethylamine results in decreased expression of PSEN2 mRNAdecreases expression 17616710
D010126 Ozone Ozone results in decreased expression of PSEN2 mRNAdecreases expression 16330353
D010634 Phenobarbital Phenobarbital results in increased expression of PSEN2 mRNAincreases expression 12807726
C121565 pifithrin pifithrin inhibits the reaction [PSEN2 protein mutant form promotes the reaction [Staurosporine results in increased activity of CASP3 protein]]decreases reaction|increases activity|increases reaction 12556443
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of PSEN2 mRNAaffects binding|decreases expression|increases activity 19710929
C006253 pirinixic acid pirinixic acid results in decreased expression of PSEN2 mRNAdecreases expression 18445702
C059514 resveratrol resveratrol results in decreased expression of PSEN2 proteindecreases expression 11606380
C009166 retinol acetate retinol acetate results in increased expression of PSEN2 mRNAincreases expression 16772331
D019311 Staurosporine pifithrin inhibits the reaction [PSEN2 protein mutant form promotes the reaction [Staurosporine results in increased activity of CASP3 protein]]decreases reaction|increases activity|increases reaction 12556443
D019311 Staurosporine PSEN2 protein mutant form promotes the reaction [Staurosporine results in increased activity of CASP3 protein]increases activity|increases reaction 12556443
D019311 Staurosporine Staurosporine promotes the reaction [PSEN2 protein mutant form results in increased expression of APP protein]increases expression|increases reaction 12556443
D013654 Taurine Taurine results in decreased expression of PSEN2 mRNAdecreases expression 16579726
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 3.496195326
MESH:D000138 Acidosis Ammonium Chloride 3.6118287403
MESH:D058186 Acute Kidney Injury pifithrin 9.3217670903
MESH:D058186 Acute Kidney Injury resveratrol 9.3216538975
MESH:D055371 Acute Lung Injury Lipopolysaccharides 9.1518653653 11850527
MESH:D055371 Acute Lung Injury pirinixic acid 9.1518653653
MESH:D000236 Adenoma resveratrol 3.3315688382
MESH:D018248 Adenoma, Liver Cell Phenobarbital 10.2917620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.2916434500
MESH:D000544 Alzheimer Disease marker/mechanism
MESH:D000544 Alzheimer Disease Ozone 4.4015513908
MESH:D000544 Alzheimer Disease resveratrol 4.4016183991 16162502
MESH:C536596 Alzheimer disease type 4 marker/mechanism
MESH:D000799 Angioedema Acetaminophen 3.9110982225
MESH:D001169 Arthritis, Experimental resveratrol 3.5217115116
MESH:D001172 Arthritis, Rheumatoid Ozone 2.5615570426
MESH:D001249 Asthma Ozone 2.6417854713 16373670
MESH:D050197 Atherosclerosis resveratrol 3.2917967414 16873680
MESH:D001321 Autistic Disorder Acetaminophen 1.4218445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.1719483382
MESH:D002545 Brain Ischemia resveratrol 4.3317600658
MESH:D001943 Breast Neoplasms resveratrol 2.7016393696 17651959 17534123
MESH:D016535 Bronchial Hyperreactivity Ozone 3.7018417511 17626835 18315731 19059883 15516495 16777450 14754758
MESH:D002100 Cachexia Ozone 4.7916183385
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.8216011737 16192424 16097048 18705752 16124888 16050911 15700767 10355542 16227642 15673190 15721981 3786805
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 8.9216705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 8.923084413
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 8.9218788625
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 8.9217173139 20007298 1701930 20935162 6705139
MESH:D006528 Carcinoma, Hepatocellular resveratrol 8.9216227395 19321006
MESH:D018827 Carcinoma, Lewis Lung resveratrol 4.6416675471
MESH:D002294 Carcinoma, Squamous Cell resveratrol 2.7216227395
MESH:D002311 Cardiomyopathy, Dilated marker/mechanism
MESH:D002318 Cardiovascular Diseases resveratrol 3.4915458977
MESH:D002386 Cataract Acetaminophen 2.6010977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.796135515
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.294080065
MESH:D002779 Cholestasis pirinixic acid 2.8519176532
MESH:D003092 Colitis resveratrol 4.1716474422
MESH:D003110 Colonic Neoplasms resveratrol 2.4616338953
MESH:D015179 Colorectal Neoplasms resveratrol 2.2216550006
MESH:D003327 Coronary Disease resveratrol 3.7716507316
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.0618551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4418249437
MESH:D003921 Diabetes Mellitus, Experimental resveratrol 3.7916873680
MESH:D058065 Diabetic Cardiomyopathies Taurine 6.1016025228
MESH:D003928 Diabetic Nephropathies resveratrol 3.9916286809
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 9.1121346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.1119923254 16227642 10663392 17906064 19420014 16393943 14725611 16109766 19164858 12392966 11461765 17522070 11739529 11421492 12540782 12705907 12594235 16485898 19416960 16177239 11743745 11287661 15619225 19370779 11529661 19085960 14550746 17562736 19739265 12958197 2444490 10915739 12153990 14986274 18713872 18071297 10774834 16081117 16781746 11834606 15968718
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 9.1119336974 10915739 3786805 19085960 6884620 15968718 17522070 2869522 15027814 21278145 7179309 16227642 3732212 7440962 15998439 16177239 10092053 11566570 4309450 7120509 9327722 6623471
MESH:D056486 Drug-Induced Liver Injury Taurine 9.119328219
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.1619426721
MESH:D004421 Dystonia Phenobarbital 4.041851702
MESH:D004487 Edema pirinixic acid 11.8712083418
MESH:D004487 Edema resveratrol 11.878985016
MESH:D004487 Edema Staurosporine 11.878273558
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental resveratrol 4.0617872969
MESH:D019446 Endotoxemia Lipopolysaccharides 4.4515821434 15328337 17637181
MESH:D020345 Enterocolitis, Necrotizing resveratrol 4.8917923197
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.153659116
MESH:D004828 Epilepsies, Partial Phenobarbital 3.9311558140 3922381
MESH:D004827 Epilepsy Phenobarbital 2.9020417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.576401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.297750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.073659116
MESH:D004938 Esophageal Neoplasms nitrosobenzylmethylamine 2.7815547721 16704527 16805852 15623463 15150132 15547733 15878914 16510608 15264214
MESH:D005234 Fatty Liver Carbon Tetrachloride 7.7715959796 17595544 12795759 19224547 12631006 16239168 16045604 61145
MESH:D005234 Fatty Liver pirinixic acid 7.7719236843 20131406
MESH:D005334 Fever Lipopolysaccharides 4.0411852909 9205823
MESH:D005355 Fibrosis Carbon Tetrachloride 3.5018705752
MESH:D005756 Gastritis Acetaminophen 3.7416983495
MESH:D006331 Heart Diseases pifithrin 4.6114766674
MESH:D006333 Heart Failure pirinixic acid 2.5520558911
MESH:D006463 Hemolytic-Uremic Syndrome Lipopolysaccharides 4.4116366002
MESH:D006505 Hepatitis Carbon Tetrachloride 3.6319900420 19110552
MESH:D006529 Hepatomegaly Phenobarbital 8.6216109766
MESH:D006529 Hepatomegaly pirinixic acid 8.6216221962 18467677 19772884 19176532
MESH:D006561 Herpes Simplex resveratrol 4.2316876885
MESH:D006930 Hyperalgesia Acetaminophen 2.7216870215
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.5816899240
MESH:D006937 Hypercholesterolemia resveratrol 4.0317188708
MESH:D006943 Hyperglycemia pirinixic acid 3.2120558911
MESH:D006949 Hyperlipidemias resveratrol 4.0616873680
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.1315338365
MESH:D017379 Hypertrophy, Left Ventricular resveratrol 4.3317488730
MESH:D020244 Infarction, Middle Cerebral Artery pifithrin 12.0919475672
MESH:D020244 Infarction, Middle Cerebral Artery resveratrol 12.0917600658
MESH:D007249 Inflammation Lipopolysaccharides 5.4917963957 9205823 17255318 12878042 17237260
MESH:D007249 Inflammation resveratrol 5.4916366677
MESH:D007251 Influenza, Human resveratrol 4.6116624496
MESH:D007333 Insulin Resistance pirinixic acid 2.6516306350
MESH:D019189 Iron Metabolism Disorders Lipopolysaccharides 4.6617255318
MESH:D007674 Kidney Diseases Acetaminophen 2.2115629191 12587719
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.0016705839
MESH:D015473 Leukemia, Promyelocytic, Acute resveratrol 3.5916087638
MESH:D007970 Leukopenia Lipopolysaccharides 4.7515821434
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 6.6817334410 17157831 11903743 16943688 16239168 11408273 16221502 17174718 21278145
MESH:D008103 Liver Cirrhosis Phenobarbital 6.6821047994
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 5.0717869086 14716496 16136751 18006644 17708605 18420326 17481882 17900296 18395914 15123356 15673190 18166357 18251166 20821823 12958196 15362042 15818738 16097048 12649538 12445418 18187930 18054572 18472094 15925388 17557913 18339082 16248980 15057751 13678700 16033810 16192424 15650968 17766677 17698563 12667390 15893842 12898905 12666154 17640975 10355542 17631135 18429990 12632514 14512876 17761835 17721639 18156304 18279442 18472332 12389079 18418968 12586293 15931870 14620537 12632512 16116963 17525996 12741479 18376398 16027843 18277467 15052691 18412020 11481614 16638106 15959796 14748882 15996030 15338365 17944888 17922224 17823541 15730626 14716833 12546737 18263696 18210741 16011737 15876570 18317297 17805973 18705752 12445421 18205269 17714472 18481824 16015684 17976157 14724832 15370692 17565644 18395095 12609069
MESH:D008106 Liver Cirrhosis, Experimental Lipopolysaccharides 5.0712878042
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 5.0715474484
MESH:D008106 Liver Cirrhosis, Experimental Taurine 5.0715931870 15893842
MESH:D008107 Liver Diseases Acetaminophen 6.5216611625 19784758 12587719 12969438 11587558 19460945 16610002 19014921
MESH:D008107 Liver Diseases Carbon Tetrachloride 6.5215720792 16246199 15830285 16964402 17285989
MESH:D008107 Liver Diseases Phenobarbital 6.5219363144
MESH:D017093 Liver Failure Carbon Tetrachloride 4.2115123358
MESH:D017114 Liver Failure, Acute Acetaminophen 9.5017185352 16871587
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 9.5016899240 14706259
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 14.367678174
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 14.3619294768
MESH:D008113 Liver Neoplasms Phenobarbital 14.3621047994 8742319 19482888 19812893 19073162 15975961
MESH:D008113 Liver Neoplasms pirinixic acid 14.3616377806 20007298 15890375
MESH:D008113 Liver Neoplasms resveratrol 14.3619812893 20405173 19073162 19321006
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 9.962876786 2876784 6135515
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 9.9615583823 12014681
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 9.9618308698 2563599 6150874 17172636 1399818
MESH:D008171 Lung Diseases Ozone 3.3919066396 8266340
MESH:D055370 Lung Injury Lipopolysaccharides 9.3821114838
MESH:D055370 Lung Injury Ozone 9.3820417186
MESH:D008175 Lung Neoplasms Ozone 2.097614698 8597069
MESH:D016393 Lymphoma, B-Cell resveratrol 4.3317088997
MESH:D008228 Lymphoma, Non-Hodgkin resveratrol 3.8914749477
MESH:D015674 Mammary Neoplasms, Animal resveratrol 4.3015688416
MESH:D008325 Mammary Neoplasms, Experimental resveratrol 3.1311606380 8985016
MESH:D008545 Melanoma resveratrol 2.3717992120
MESH:D008546 Melanoma, Experimental Acetaminophen 3.6119513568
MESH:D008659 Metabolic Diseases resveratrol 4.4117112576
MESH:D008679 Metaplasia Ozone 5.1710496685
MESH:D009101 Multiple Myeloma resveratrol 3.4917049120 16267019 16490592 17935668 14749477 17164350
MESH:D009134 Muscular Atrophy, Spinal resveratrol 4.9217962980
MESH:D009135 Muscular Diseases pirinixic acid 3.5516239165
MESH:D009203 Myocardial Infarction pirinixic acid 5.7819151258
MESH:D009203 Myocardial Infarction resveratrol 5.7817188708 16317513 17125593 16525036 17015251 16456233
MESH:D017202 Myocardial Ischemia resveratrol 4.0317015251 17125593
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 2.9716411023
MESH:D009205 Myocarditis resveratrol 4.8117322642
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.5317484760
MESH:D009336 Necrosis 2,6-dinitrotoluene 3.9118551238 7678174
MESH:D009369 Neoplasms pirinixic acid 1.9617405874
MESH:D009374 Neoplasms, Experimental resveratrol 4.048985016
MESH:D019636 Neurodegenerative Diseases Acetaminophen 8.4318514411
MESH:D019636 Neurodegenerative Diseases resveratrol 8.4317652729
MESH:D020078 Neurogenic Inflammation resveratrol 4.4317929310
MESH:D009765 Obesity pirinixic acid 1.8220558911
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.4616049721
MESH:D010018 Osteomalacia Phenobarbital 4.4117016548
MESH:D015663 Osteoporosis, Postmenopausal resveratrol 4.2917513867
MESH:D010146 Pain Acetaminophen 2.4116870215
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5016965848
MESH:D010538 Peritonitis Ozone 4.1716369182
MESH:D011014 Pneumonia Lipopolysaccharides 11.2712224865 11605937
MESH:D011014 Pneumonia Ozone 11.2718007984 18929643 18381685
MESH:D011230 Precancerous Conditions Phenobarbital 3.652563599
MESH:D011297 Prenatal Exposure Delayed Effects resveratrol 4.2316679765
MESH:D011471 Prostatic Neoplasms resveratrol 3.6315767336 17675339 17804756 17636462 17718901 16731767
MESH:D019310 Pseudolymphoma Phenobarbital 4.5612752131
MESH:D051436 Renal Insufficiency, Chronic resveratrol 5.6516325855
MESH:D015427 Reperfusion Injury pirinixic acid 6.6119058328
MESH:D015427 Reperfusion Injury resveratrol 6.6116317513 17520802 15827377 16314181 17058453
MESH:D012130 Respiratory Hypersensitivity Lipopolysaccharides 3.7510835634
MESH:D012640 Seizures 2,6-dinitrotoluene 5.9918551238
MESH:D012640 Seizures Phenobarbital 5.993137016 16876388 4039156 11442880
MESH:D003294 Seizures, Febrile Phenobarbital 4.876407741
MESH:D012878 Skin Neoplasms resveratrol 3.048985016 15837718
MESH:D013274 Stomach Neoplasms nitrosobenzylmethylamine 2.3212958204 17575124
OMIM:601367 STROKE, ISCHEMIC resveratrol 4.5116321402
MESH:D013345 Subarachnoid Hemorrhage pifithrin 6.1218364113
MESH:D013921 Thrombocytopenia Lipopolysaccharides 4.1915821434
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.071399818
MESH:D014062 Tongue Neoplasms resveratrol 4.2416227395
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.3016049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.3710091137
MESH:D014581 Urticaria Acetaminophen 3.0110982225
MESH:D002583 Uterine Cervical Neoplasms resveratrol 4.1317473185
MESH:D014594 Uterine Neoplasms resveratrol 4.1717044934
MESH:D020301 Vasospasm, Intracranial pifithrin 5.6718364113
MESH:D018487 Ventricular Dysfunction, Left resveratrol 4.3417488730
Pathway ID Pathway Name
KEGG:05010 Alzheimer's disease
KEGG:04722 Neurotrophin signaling pathway
KEGG:04330 Notch signaling pathway
REACT:299 Signaling by Notch
REACT:11061 Signalling by NGF
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA33856
    • Releated gene ID Related gene Name
    PA156ESR1
    Releated disease ID Related disease Name
    PA443319Alzheimer Disease
    PA443632Cardiomyopathy, Dilated
    Releated drug ID Related drug Name
    PA449509estrogens
    PA137179528nimesulide
    Drug Bank Top

    Simple Query:


      (e.g. CHD8)

    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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