AutismKB 2.0

Annotation Detail for AQP4


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Basic Information Top
Gene Symbol:AQP4 ( HMIWC2,MGC22454,MIWC )
Gene Full Name: aquaporin 4
Band: 18q11.2
Quick LinksEntrez ID:361; OMIM: 600308; Uniprot ID:AQP4_HUMAN; ENSEMBL ID: ENSG00000171885; HGNC ID: 637
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04962Vasopressin-regulated water reabsorption
Pathway IDPathway Name
Transmembrane transport of small molecules
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1848Embryoma
1953Nervous system disease
1983Down syndrome
2124Autistic disorder
2145Subarachnoid hemorrhage
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C017906 3-dinitrobenzene 3-dinitrobenzene results in decreased expression of AQP4 mRNAdecreases expression 16142770
D000082 Acetaminophen Acetaminophen affects the expression of AQP4 mRNAaffects expression 17562736
D019342 Acetic Acid Acetic Acid results in increased expression of AQP4 proteinincreases expression 18406487
D000641 Ammonia Ammonia results in decreased expression of AQP4 mRNAdecreases expression 20217200
D000641 Ammonia IL1B protein inhibits the reaction [Ammonia results in decreased expression of AQP4 mRNA]decreases expression|decreases reaction 20217200
D000643 Ammonium Chloride Ammonium Chloride affects the expression of AQP4 mRNAaffects expression 16483693
C044946 benazepril benazepril inhibits the reaction [Glucose results in increased expression of AQP4 mRNA]decreases reaction|increases expression 11510275
D001623 Betamethasone Betamethasone results in increased expression of AQP4 mRNAincreases expression 9409467
D002251 Carbon Tetrachloride Carbon Tetrachloride results in decreased expression of AQP4 mRNAdecreases expression 17805973
D003513 Cycloheximide [Lactic Acid co-treated with Cycloheximide] results in increased expression of AQP4 proteinaffects cotreatment|increases expression 18406487
D005839 Gentamicins [Gentamicins results in increased expression of DMD protein mutant form] which results in increased expression of AQP4 proteinincreases expression 18694830
D005947 Glucose benazepril inhibits the reaction [Glucose results in increased expression of AQP4 mRNA]decreases reaction|increases expression 11510275
D005947 Glucose Glucose results in increased expression of AQP4 mRNAincreases expression 11510275
D005947 Glucose valsartan inhibits the reaction [Glucose results in increased expression of AQP4 mRNA]decreases reaction|increases expression 11510275
D006851 Hydrochloric Acid Hydrochloric Acid results in increased expression of AQP4 proteinincreases expression 18406487
D019266 Iron, Dietary Iron, Dietary affects the expression of AQP4 mRNAaffects expression 15637178
D019344 Lactic Acid Lactic Acid affects the localization of AQP4 proteinaffects localization 18406487
D019344 Lactic Acid [Lactic Acid co-treated with Cycloheximide] results in increased expression of AQP4 proteinaffects cotreatment|increases expression 18406487
D019344 Lactic Acid Lactic Acid results in increased expression of AQP4 proteinincreases expression 18406487
C025299 polyphenols polyphenols results in decreased expression of AQP4 mRNAdecreases expression 16293270
C017947 sodium arsenite sodium arsenite results in decreased expression of AQP4 mRNAdecreases expression 20308225
D013726 Terbutaline Terbutaline results in increased expression of AQP4 mRNAincreases expression 9409467
D013890 Thiourea Thiourea results in decreased expression of AQP4 mRNAdecreases expression 15248066
C081489 valsartan valsartan inhibits the reaction [Glucose results in increased expression of AQP4 mRNA]decreases reaction|increases expression 11510275
C025643 vinclozolin vinclozolin affects the expression of AQP4 mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Terbutaline 4.8314610225
MESH:D000138 Acidosis Ammonium Chloride 17.6818287403
MESH:D000138 Acidosis Hydrochloric Acid 17.6820872349 12771618 15920416 11574821 16144966 19262391
MESH:D000138 Acidosis Lactic Acid 17.6818406487 20872349
MESH:D000141 Acidosis, Renal Tubular Hydrochloric Acid 5.6817183249
MESH:D000142 Acidosis, Respiratory Hydrochloric Acid 5.7320597076
MESH:D058186 Acute Kidney Injury Gentamicins 4.4611274264
MESH:D055371 Acute Lung Injury Hydrochloric Acid 4.7011953099 16759491 15970105 19094174 19060228 11850527 19760209
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 4.6215276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 4.8217306315 16712894
MESH:D000686 Amyloidosis Terbutaline 5.547986221
MESH:D000799 Angioedema Acetaminophen 3.7610982225
MESH:D000860 Anoxia Hydrochloric Acid 5.2215090967
MESH:D001008 Anxiety Disorders vinclozolin 3.5719015723
MESH:D001321 Autistic Disorder marker/mechanism 18435417
MESH:D001321 Autistic Disorder Acetaminophen 2.3818445737
MESH:D001321 Autistic Disorder Terbutaline 2.3816417856 17400887
MESH:D001778 Blood Coagulation Disorders Hydrochloric Acid 4.7315920416
MESH:D001929 Brain Edema Ammonia 6.1919393034 11481608 20217200
MESH:D016535 Bronchial Hyperreactivity Hydrochloric Acid 4.5112378975
MESH:D001986 Bronchial Spasm Hydrochloric Acid 5.3915578804
MESH:D019559 Capillary Leak Syndrome Terbutaline 5.789428835 11713377
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.6918705752 10355542 16097048 3786805 16124888 15721981 16011737 16227642 16050911 15700767 16192424 15673190
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.473084413
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 4.4718788625
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 4.4717306315 16507464 15276417
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 2.3618572023
MESH:D006332 Cardiomegaly valsartan 4.1319597038
MESH:D009202 Cardiomyopathies valsartan 4.3816247790
MESH:D002318 Cardiovascular Diseases valsartan 4.2411230374
MESH:D002386 Cataract Acetaminophen 2.5310977129
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 2.9320056578 19524636
MESH:D003110 Colonic Neoplasms polyphenols 2.6616293270
MESH:D003324 Coronary Artery Disease valsartan 3.8717719468
MESH:D003371 Cough Terbutaline 5.4819679606
MESH:D003384 Coxsackievirus Infections valsartan 5.7620392896
MESH:D003456 Cryptorchidism vinclozolin 4.2514966744
MESH:D003556 Cystitis Hydrochloric Acid 5.3912599022 19279288 12853844 20719367
MESH:D018856 Cystitis, Interstitial Hydrochloric Acid 5.7317714534
MESH:D017449 Dermatitis, Allergic Contact Ammonia 4.6716823706
MESH:D003921 Diabetes Mellitus, Experimental valsartan 4.5211508273
MESH:D003928 Diabetic Nephropathies valsartan 4.7111427623 18630688
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.1317522070 10663392 12594235 11461765 16109766 17906064 15968718 11529661 16393943 11287661 19923254 10915739 16081117 14986274 16485898 16227642 12958197 12540782 17562736 16781746 19085960 11834606 2444490 14550746 11421492 19739265 16177239 14725611 19370779 19416960 10774834 12705907 19164858 18071297 19420014 12153990 18713872 12392966 11743745 11739529 15619225
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 6.133732212 11566570 16227642 19336974 15968718 15027814 10915739 7179309 17522070 10092053 21278145 2869522 16177239 6884620 15998439 7440962 19085960 4309450 3786805 9327722 7120509 6623471
MESH:D056486 Drug-Induced Liver Injury polyphenols 6.1319370779
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.0219426721
MESH:D004362 Drug Toxicity Gentamicins 4.3715033597 11033412
MESH:D004935 Esophageal Diseases Hydrochloric Acid 5.7119566590
MESH:D004941 Esophagitis Hydrochloric Acid 5.9112928072
MESH:D004942 Esophagitis, Peptic Hydrochloric Acid 5.9311346197 20516732 14621274
MESH:D005234 Fatty Liver Carbon Tetrachloride 3.0961145 17595544 16239168 15959796 19224547 12795759 12631006 16045604
MESH:D005355 Fibrosis Carbon Tetrachloride 20.6718705752
MESH:D005355 Fibrosis Hydrochloric Acid 20.6718497604
MESH:D005355 Fibrosis Terbutaline 20.6715467267
MESH:D005355 Fibrosis valsartan 20.6716893502
MESH:D005739 Gas Poisoning Hydrochloric Acid 5.3912378975
MESH:D005756 Gastritis Acetaminophen 3.5916983495
MESH:D005764 Gastroesophageal Reflux Hydrochloric Acid 5.2419957777 19951613 20616304 20545468 12212954 20516732
MESH:D030342 Genetic Diseases, Inborn vinclozolin 4.8516973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.2216417039
MESH:D005833 Genital Neoplasms, Female sodium arsenite 4.5916452187
MESH:D015432 Glomerulonephritis, Membranoproliferative valsartan 5.4616928621
MESH:D034381 Hearing Loss Gentamicins 4.8115968427 18024279 19130971 17868369
MESH:D006356 Heartburn Hydrochloric Acid 5.7119566590
MESH:D006333 Heart Failure valsartan 4.2019027736
MESH:D006501 Hepatic Encephalopathy Ammonia 5.7420549931 12420312 16338762
MESH:D006505 Hepatitis Carbon Tetrachloride 3.5119110552 19900420
MESH:D006689 Hodgkin Disease sodium arsenite 3.0812676792
MESH:D006930 Hyperalgesia Acetaminophen 2.6316870215
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.4516899240
MESH:D053565 Hypercalciuria Gentamicins 5.6217652376
MESH:D006940 Hyperemia Hydrochloric Acid 5.5612646421
MESH:D006973 Hypertension benazepril 6.5818390891 12692753
MESH:D006973 Hypertension valsartan 6.5810903974 12692753 12850387 16475468 20102058 11427623 18344623 18390891
MESH:D006974 Hypertension, Malignant valsartan 6.3311560862
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 11.1215338365
MESH:D006975 Hypertension, Portal Hydrochloric Acid 11.1216984587
MESH:D006976 Hypertension, Pulmonary Hydrochloric Acid 4.3919262391
MESH:D006985 Hyperventilation Terbutaline 5.9810895896
MESH:D007008 Hypokalemia Terbutaline 6.0117292646
MESH:D007022 Hypotension Hydrochloric Acid 4.6711574821
MESH:D007248 Infertility, Male 3-dinitrobenzene 11.1916988215
MESH:D007248 Infertility, Male sodium arsenite 11.1915346721 12646999
MESH:D007248 Infertility, Male vinclozolin 11.1916467254
MESH:D007249 Inflammation Hydrochloric Acid 5.6511574821
MESH:D007249 Inflammation polyphenols 5.6516366677
MESH:D007410 Intestinal Diseases Hydrochloric Acid 4.8811574821
MESH:D007673 Kidney Cortex Necrosis Gentamicins 5.6518842672
MESH:D007674 Kidney Diseases Acetaminophen 14.1412587719 15629191
MESH:D007674 Kidney Diseases Gentamicins 14.1418289764 19349640 17934191
MESH:D007674 Kidney Diseases sodium arsenite 14.1420008137
MESH:D007674 Kidney Diseases valsartan 14.1410903974 16893502 12164870
MESH:D007683 Kidney Tubular Necrosis, Acute Gentamicins 5.3011231351
MESH:D007818 Laryngeal Diseases Hydrochloric Acid 6.2816498863
MESH:D007826 Laryngismus Hydrochloric Acid 6.2811510729
MESH:D016773 Leishmaniasis, Cutaneous Gentamicins 4.3910219319
MESH:D053609 Lethargy Terbutaline 6.2310895896
MESH:D007984 Leydig Cell Tumor vinclozolin 4.6516417039
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 6.9111903743 16239168 21278145 11408273 17334410 16221502 17174718 16943688 17157831
MESH:D008103 Liver Cirrhosis Hydrochloric Acid 6.9116984587
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 2.9218705752 18472332 18166357 15925388 15650968 16136751 17944888 17557913 14724832 12898905 15893842 12632514 12666154 14748882 16116963 15370692 16033810 14512876 16097048 18054572 16015684 18472094 18481824 14620537 17823541 12546737 18317297 15730626 14716496 18006644 17900296 18277467 17565644 15673190 20821823 12649538 11481614 15931870 15057751 17698563 12609069 12445418 18279442 18210741 18395095 16248980 17525996 12389079 18376398 18395914 18429990 16638106 15362042 17922224 17721639 15338365 12586293 18412020 12445421 17481882 16192424 17805973 13678700 17869086 18418968 15818738 17766677 17708605 15959796 18156304 15996030 10355542 16011737 17714472 17631135 18205269 18187930 17761835 17640975 12632512 18420326 15052691 18251166 12741479 14716833 18339082 15123356 18263696 12667390 12958196 16027843 15876570 17976157
MESH:D008106 Liver Cirrhosis, Experimental valsartan 2.9215619341 15504291 16872305
MESH:D008107 Liver Diseases Acetaminophen 6.4316611625 16610002 19460945 12587719 19014921 11587558 19784758 12969438
MESH:D008107 Liver Diseases Carbon Tetrachloride 6.4317285989 16246199 16964402 15830285 15720792
MESH:D008107 Liver Diseases polyphenols 6.4316698588
MESH:D017093 Liver Failure Carbon Tetrachloride 4.0815123358
MESH:D017114 Liver Failure, Acute Acetaminophen 9.1416871587 17185352
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 9.1416899240 14706259
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 4.5319294768
MESH:D008113 Liver Neoplasms sodium arsenite 4.5315276417 16712894
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 2.5612014681 15583823
MESH:D008171 Lung Diseases Hydrochloric Acid 7.6516784557
MESH:D008171 Lung Diseases sodium arsenite 7.6519095001
MESH:D055370 Lung Injury Hydrochloric Acid 4.6717627322 18339021 20597076 15044056 21114838 16129981 19644408 21311175 18497604 15607125 15090967 19262391 18573544 11395602
MESH:D008175 Lung Neoplasms sodium arsenite 1.8916712894 17306315 19931552 15276417 17077188
MESH:D008545 Melanoma Glucose 3.7114993021
MESH:D008545 Melanoma sodium arsenite 3.7119082730 16487513
MESH:D008546 Melanoma, Experimental Acetaminophen 3.4819513568
MESH:D009137 Muscular Dystrophy, Animal Gentamicins 6.1918694830
MESH:D009203 Myocardial Infarction Hydrochloric Acid 3.7718534312
MESH:D009369 Neoplasms sodium arsenite 2.4611559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 3.5820056578
MESH:D009410 Nerve Degeneration 3-dinitrobenzene 5.3211301198
MESH:D009436 Neural Tube Defects sodium arsenite 3.0812854658
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.8018514411
MESH:D007752 Obstetric Labor, Premature Terbutaline 6.0314998686
MESH:D009784 Occupational Diseases Hydrochloric Acid 4.6812378975
MESH:D010051 Ovarian Neoplasms sodium arsenite 2.4117306315 15276417
MESH:D010146 Pain Acetaminophen 2.3216870215
MESH:D011015 Pneumonia, Aspiration Hydrochloric Acid 5.2818573544 15970105 15607125 18497604
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 3.8119015723 18042343 18220299
MESH:D011350 Proctocolitis Acetic Acid 7.3511561086
MESH:D011469 Prostatic Diseases vinclozolin 4.8518220299
MESH:D011471 Prostatic Neoplasms sodium arsenite 3.3316039940
MESH:D011472 Prostatitis vinclozolin 4.8518629315
MESH:D011507 Proteinuria Gentamicins 9.7215033597
MESH:D011507 Proteinuria valsartan 9.7212164870 17664856 18344623
MESH:D011537 Pruritus Betamethasone 6.1218058305
MESH:D001261 Pulmonary Atelectasis Hydrochloric Acid 5.9320597076
MESH:D011654 Pulmonary Edema Hydrochloric Acid 17.9915090967
MESH:D011654 Pulmonary Edema Terbutaline 17.9910903255
MESH:D011654 Pulmonary Edema Thiourea 17.9910849556
MESH:D011658 Pulmonary Fibrosis valsartan 3.7817241526
MESH:D051437 Renal Insufficiency Gentamicins 4.9115728788 17132701
MESH:D012128 Respiratory Distress Syndrome, Adult Hydrochloric Acid 9.6818549715 16784557 16129981 18339021 17627322
MESH:D012128 Respiratory Distress Syndrome, Adult Terbutaline 9.682878809
MESH:D012133 Respiratory Paralysis Hydrochloric Acid 6.2811510729
MESH:D012140 Respiratory Tract Diseases Hydrochloric Acid 5.0820516732
MESH:D012173 Retinitis Gentamicins 6.1918644591
MESH:D012772 Shock, Septic Terbutaline 5.413431524
MESH:D012878 Skin Neoplasms Glucose 6.0814993021
MESH:D012878 Skin Neoplasms sodium arsenite 6.0818572023 19524636
MESH:D016135 Spinal Dysraphism sodium arsenite 3.7312854658
MESH:D013276 Stomach Ulcer Acetic Acid 8.2019188055
MESH:D013276 Stomach Ulcer Hydrochloric Acid 8.2015309881 16755016 17189318
MESH:D013610 Tachycardia Terbutaline 5.4110895896
MESH:D024801 Tauopathies Betamethasone 6.5616930453
MESH:D013705 Temporomandibular Joint Disorders polyphenols 5.1717997062
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 2.4717306315 16712894 16452187 11723127
MESH:D014581 Urticaria Acetaminophen 2.8910982225
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 3.6911813266
MESH:D014652 Vascular Diseases sodium arsenite 4.3417056641
MESH:D020257 Ventricular Remodeling valsartan 5.6119027736
MESH:D015837 Vestibular Diseases Gentamicins 5.4318776599
Pathway ID Pathway Name
KEGG:04976 Bile secretion
REACT:15518 Transmembrane transport of small molecules
KEGG:04962 Vasopressin-regulated water reabsorption
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB03122 - B-Octylglucoside Detergents
No data
No data
No data

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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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