AutismKB 2.0

Annotation Detail for KCNE3


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Basic Information Top
Gene Symbol:KCNE3 ( DKFZp781H21101,HOKPP,HYPP,MGC102685,MGC129924,MiRP2 )
Gene Full Name: potassium voltage-gated channel, Isk-related family, member 3
Band: 11q13.4
Quick LinksEntrez ID:10008; OMIM: 604433; Uniprot ID:KCNE3_HUMAN; ENSEMBL ID: ENSG00000175538; HGNC ID: 6243
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04974Protein digestion and absorption
No data
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Inherited disorders of ion transport and metabolism
H00215Periodic paralysis
Genetic disorders
Desease IDDesease Name
1832Congenital abnormality
No data
No data
Desease Name
Brugada syndrome 6
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C103474 6-cyano-4-(N-ethylsulfonyl-N-methylamino)-3-hydroxy-2,2-dimethylchromane 6-cyano-4-(N-ethylsulfonyl-N-methylamino)-3-hydroxy-2,2-dimethylchromane inhibits the reaction [[KCNQ1 protein binds to KCNE3 protein] which affects the transport of Potassium]affects binding|affects transport|decreases reaction 11527966
C103474 6-cyano-4-(N-ethylsulfonyl-N-methylamino)-3-hydroxy-2,2-dimethylchromane 6-cyano-4-(N-ethylsulfonyl-N-methylamino)-3-hydroxy-2,2-dimethylchromane results in decreased activity of [KCNQ1 protein binds to KCNE3 protein]affects binding|decreases activity 16055675
C117298 7,8-benzoquinoline 7,8-benzoquinoline results in increased activity of KCNE3 proteinincreases activity 12967937
D000082 Acetaminophen Acetaminophen affects the expression of KCNE3 mRNAaffects expression 17562736
D000638 Amiodarone Amiodarone results in increased expression of KCNE3 mRNAincreases expression 15520326
D000643 Ammonium Chloride Ammonium Chloride affects the expression of KCNE3 mRNAaffects expression 16483693
D000838 Anions KCNE3 protein affects the secretion of Anionsaffects secretion 12967937
D002712 Chlorides [KCNQ1 protein binds to KCNE3 protein] which results in increased secretion of Chloridesaffects binding|increases secretion 16055675
C006253 pirinixic acid pirinixic acid results in decreased expression of KCNE3 mRNAdecreases expression 17426115
D011188 Potassium 6-cyano-4-(N-ethylsulfonyl-N-methylamino)-3-hydroxy-2,2-dimethylchromane inhibits the reaction [[KCNQ1 protein binds to KCNE3 protein] which affects the transport of Potassium]affects binding|affects transport|decreases reaction 11527966
D011188 Potassium [KCNQ1 protein binds to KCNE3 protein] which affects the transport of Potassiumaffects binding|affects transport 11527966
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of KCNE3 mRNAincreases expression 16467188
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of KCNE3 mRNAdecreases expression 19490992
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0811752688 15322242 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.8018287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.3018653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.7116434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.7116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1111748828
MESH:D000799 Angioedema Acetaminophen 4.1110982225
MESH:D001145 Arrhythmias, Cardiac Amiodarone 3.9618218290 18057881 20041841
MESH:D001281 Atrial Fibrillation Amiodarone 4.0319698954 18651412
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001778 Blood Coagulation Disorders Amiodarone 16.3419483382
MESH:D001778 Blood Coagulation Disorders pirinixic acid 16.3419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 16.3412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8715746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6920435547
MESH:D053840 Brugada Syndrome marker/mechanism
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9316835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.393084413
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4518850075 18670907 16120746
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.9415710769 19225199
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.3218974383
MESH:D002386 Cataract Acetaminophen 2.6710977129
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3116835633
MESH:D002779 Cholestasis pirinixic acid 2.9519176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1616354765 8697196 12621046 15340226 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2114669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 15322242 20055451
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4918249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7017107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.4311739529 11287661 19923254 15968718 10774834 12705907 11743745 12958197 2444490 16781746 19085960 14725611 19370779 17906064 12392966 10915739 16485898 11421492 19164858 17522070 12153990 19416960 19420014 11461765 16393943 18071297 12540782 19739265 17562736 14986274 15619225 11834606 18713872 16109766 12594235 16081117 14550746 16227642 11529661 10663392 16177239
MESH:D056486 Drug-Induced Liver Injury Amiodarone 6.4315265979 18218290
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.4320420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3619426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8911462148
MESH:D004487 Edema pirinixic acid 7.1112083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.1111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1716714409 15322242 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1810568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1411564622
MESH:D005234 Fatty Liver Amiodarone 8.3814986274
MESH:D005234 Fatty Liver pirinixic acid 8.3819236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6711858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.1620067830
MESH:D005756 Gastritis Acetaminophen 3.9416983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4111294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.6320558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5111000095
MESH:D006529 Hepatomegaly Amiodarone 15.7215265979
MESH:D006529 Hepatomegaly pirinixic acid 15.7218467677 16221962 19176532 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 15.7215340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3115340226 18606429 8697196 16959395 16354765
MESH:D006930 Hyperalgesia Acetaminophen 2.8416870215
MESH:D006937 Hypercholesterolemia Amiodarone 4.049751232 8137927
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9618670907 18850075
MESH:D020514 Hypokalemic Periodic Paralysis Potassium 6.1019822448
OMIM:170400 HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 marker/mechanism
MESH:D007037 Hypothyroidism Amiodarone 4.7318020914 17991464
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9312878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 2.7416306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5116580747
MESH:D007674 Kidney Diseases Acetaminophen 2.2912587719 15629191
MESH:D008064 Lipidoses Amiodarone 3.6315342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1815474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1812878042
MESH:D008107 Liver Diseases Acetaminophen 1.6619460945 11587558 19784758 16610002 19014921 16611625 12969438 12587719
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4017185352 16871587
MESH:D008113 Liver Neoplasms pirinixic acid 4.4416377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.4416984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2012151625
MESH:D008133 Long QT Syndrome Amiodarone 3.7117391786 15350150 11989578
MESH:D008171 Lung Diseases Amiodarone 3.4812587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 4.7418516814
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7819513568
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
MESH:D009181 Mycoses Amiodarone 5.1717974566 12754197
MESH:D009203 Myocardial Infarction pirinixic acid 2.2019151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1612213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0816411023
MESH:D009369 Neoplasms pirinixic acid 2.0217405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4114600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0118514411
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D010146 Pain Acetaminophen 2.5316870215
MESH:D020513 Paralysis, Hyperkalemic Periodic marker/mechanism
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5112520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7618163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4311399792 11118676 11896295 11222880
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9111597910 12832656 12490602
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0418990726
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.3218724381
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1116192470
MESH:D013276 Stomach Ulcer Amiodarone 3.4818087811
MESH:D013610 Tachycardia Amiodarone 4.4911238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.3919225199
MESH:D013959 Thyroid Diseases Amiodarone 12.9519731979
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 12.9512697716
MESH:D013971 Thyrotoxicosis Amiodarone 5.0818020914 19584973
MESH:D016171 Torsades de Pointes Amiodarone 4.4311989578 17467628
MESH:D014581 Urticaria Acetaminophen 3.1610982225
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5115886252
Pathway ID Pathway Name
KEGG:04974 Protein digestion and absorption
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA393
    • No data
    Releated disease ID Related disease Name
    PA443459Atrial Fibrillation
    PA443829Cystic Fibrosis
    Releated drug ID Related drug Name
    PA452249antiarrhythmics, class i and iii
    Drug Bank Top

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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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