AutismKB 2.0

Annotation Detail for KCNQ1


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Basic Information Top
Gene Symbol:KCNQ1 ( ATFB1,ATFB3,FLJ26167,JLNS1,KCNA8,KCNA9,KVLQT1,Kv1.9,Kv7.1,LQT,LQT1,RWS,SQT2,WRS )
Gene Full Name: potassium voltage-gated channel, KQT-like subfamily, member 1
Band: 11p15.5-p15.4
Quick LinksEntrez ID:3784; OMIM: 607542; Uniprot ID:KCNQ1_HUMAN; ENSEMBL ID: ENSG00000053918; HGNC ID: 6294
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04972Pancreatic secretion
hsa04974Protein digestion and absorption
hsa04971Gastric acid secretion
hsa05110Vibrio cholerae infection
No data
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Metabolic diseases
Diabetes
H00409Type II diabetes mellitus
Desease IDDesease Name
1712Yersinia infection
1866Sudden infant death syndrome
2075Heart failure
2092Long QT syndrome
2105Primary hyperparathyroidism
2120Rabies
2192Lung disease
2207Deafness
Desease Name
CARDIOVASCULAR
protein quantitative trait loci
QT interval
METABOLIC
long-QT syndrome
Jervell and Lange-Nielsen syndrome
EKG, abnormal
type 2 diabetes
diabetes, type 2
long QT syndrome
antisense paternal transcript and loss of imprinting
Desease Name
Electrocardiographic traits
Type 2 diabetes
QT interval
Protein quantitative trait loci
Platelet aggregation
Desease Name
Long QT syndrome-1
Long QT syndrome 1, acquired, susceptibility to
Short QT syndrome-2
Jervell and Lange-Nielsen syndrome
Atrial fibrillation, familial, 3
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C112297 10,10-bis(4-pyridinylmethyl)-9(10H)-anthracenone 10,10-bis(4-pyridinylmethyl)-9(10H)-anthracenone results in decreased activity of KCNQ1 proteindecreases activity 18568022
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of KCNQ1 mRNAincreases expression 18648102
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 proteindecreases activity 20050851
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 KCNE1 protein]affects binding|decreases activity 16909339
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 KCNQ1 proteinincreases activity 12967937
D020106 Acrylamide Acrylamide analog results in decreased activity of KCNQ1 proteindecreases activity 16904708
D020106 Acrylamide KCNE1 protein promotes the reaction [Acrylamide analog results in decreased activity of KCNQ1 protein]decreases activity|increases reaction 16904708
D000643 Ammonium Chloride Ammonium Chloride affects the expression of KCNQ1 mRNAaffects expression 16483693
D000838 Anions KCNQ1 protein affects the secretion of Anionsaffects secretion 12967937
D001464 Barium Barium results in decreased activity of [KCNQ1 protein binds to KCNE1 protein]affects binding|decreases activity 16909339
C024986 barium chloride barium chloride results in decreased activity of [KCNQ1 protein binds to KCNE1 protein]affects binding|decreases activity 16909339
D002045 Bupivacaine Bupivacaine results in decreased activity of KCNQ1 proteindecreases activity 16931984
D002045 Bupivacaine Bupivacaine results in decreased activity of [KCNQ1 protein binds to KCNE1 protein]affects binding|decreases activity 16931984
D002045 Bupivacaine KCNE1 protein inhibits the reaction [KCNQ1 protein mutant form results in increased susceptibility to Bupivacaine]decreases reaction|increases response to substance 16931984
D002045 Bupivacaine KCNQ1 protein mutant form results in increased susceptibility to Bupivacaineincreases response to substance 16931984
D002712 Chlorides [KCNQ1 protein binds to KCNE3 protein] which results in increased secretion of Chloridesaffects binding|increases secretion 16055675
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of KCNQ1 geneincreases mutagenesis 16724327
C420023 HMR 1556 HMR 1556 results in decreased activity of [KCNQ1 protein binds to KCNE1 protein]affects binding|decreases activity 16909339
D007545 Isoproterenol Isoproterenol results in increased activity of [KCNQ1 protein binds to KCNE1 protein]affects binding|increases activity 16909339
D007545 Isoproterenol N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide inhibits the reaction [Isoproterenol results in increased activity of [KCNQ1 protein binds to KCNE1 protein]]affects binding|decreases reaction|increases activity 16909339
C113498 L 364373 L 364373 results in increased activity of [KCNQ1 protein binds to KCNE1 protein]affects binding|increases activity 16945016
C061017 linopirdine linopirdine results in decreased activity of KCNQ1 proteindecreases activity 18568022
D008070 Lipopolysaccharides Lipopolysaccharides results in decreased expression of KCNQ1 mRNAdecreases expression 12057914
D008619 Mepivacaine Mepivacaine results in decreased activity of KCNQ1 proteindecreases activity 16931984
D008619 Mepivacaine Mepivacaine results in decreased activity of [KCNQ1 protein binds to KCNE1 protein]affects binding|decreases activity 16931984
D009151 Mustard Gas Mustard Gas affects the expression of KCNQ1 mRNAaffects expression 15651846
C476437 N-(1-(3-morpholin-4-ylphenyl)ethyl)-3-phenylacrylamide KCNE1 protein promotes the reaction [N-(1-(3-morpholin-4-ylphenyl)ethyl)-3-phenylacrylamide results in decreased activity of KCNQ1 protein]decreases activity|increases reaction 16904708
C476437 N-(1-(3-morpholin-4-ylphenyl)ethyl)-3-phenylacrylamide N-(1-(3-morpholin-4-ylphenyl)ethyl)-3-phenylacrylamide results in decreased activity of KCNQ1 proteindecreases activity 16904708
C063509 N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide inhibits the reaction [Isoproterenol results in increased activity of [KCNQ1 protein binds to KCNE1 protein]]affects binding|decreases reaction|increases activity 16909339
D011188 Potassium [KCNQ1 protein binds to KCNE1 protein] which affects the transport of Potassiumaffects binding|affects transport 16909339
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
C037663 ropivacaine ropivacaine results in decreased activity of KCNQ1 proteindecreases activity 16931984
C037663 ropivacaine ropivacaine results in decreased activity of [KCNQ1 protein binds to KCNE1 protein]affects binding|decreases activity 16931984
D016593 Terfenadine KCNE1 protein inhibits the reaction [KCNQ1 protein mutant form results in increased susceptibility to Terfenadine]decreases reaction|increases response to substance 16931984
D016593 Terfenadine KCNQ1 protein mutant form results in increased susceptibility to Terfenadineincreases response to substance 16931984
D014639 Vanadium Vanadium results in increased expression of KCNQ1 mRNAincreases expression 15159208
D015032 Zinc Zinc results in increased expression of KCNQ1 mRNAincreases expression 15159208
17074742
D019287 Zinc Sulfate Zinc Sulfate results in increased expression of KCNQ1 mRNAincreases expression 17074742
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 9.8618287403
MESH:D000138 Acidosis Zinc Sulfate 9.867265320
MESH:D000169 Acrodermatitis Zinc 5.1717190629 16889938 17202136
MESH:D055371 Acute Lung Injury Lipopolysaccharides 3.8218653653 11850527
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 6.553712494
MESH:D000236 Adenoma Ethylnitrosourea 6.556695378
OMIM:607154 ALLERGIC RHINITIS Terfenadine 5.4616037679
MESH:D000544 Alzheimer Disease Zinc 2.7116580781 17119284 16410023 16325427
MESH:D000755 Anemia, Sickle Cell Zinc 4.6816916123
MESH:D000860 Anoxia Zinc Sulfate 4.797265320
MESH:D001249 Asthma Mustard Gas 4.9710378619
MESH:D001249 Asthma Zinc 4.9717085522
MESH:C538261 Atrial fibrillation, familial 1 marker/mechanism
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 4.791440618 11289319
MESH:D001768 Blister Mustard Gas 4.9319167455
MESH:D001919 Bradycardia Isoproterenol 4.956740701
MESH:D001927 Brain Diseases Ethylnitrosourea 4.6814991843
MESH:D001930 Brain Injuries Zinc 4.4717109824
MESH:D001932 Brain Neoplasms Ethylnitrosourea 4.0916357521 15144691 16651633 16436596 18412241
MESH:D001943 Breast Neoplasms Acrylamide 3.3416253758 18183576
MESH:D001943 Breast Neoplasms Vanadium 3.3415565634
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 4.9315286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 4.7517687719 10378619
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 3.503581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Vanadium 3.5016830150 16878318
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.577296757
MESH:D002294 Carcinoma, Squamous Cell Zinc 2.8416543248
MESH:D006332 Cardiomegaly Isoproterenol 4.0511179087 7544033
MESH:D002318 Cardiovascular Diseases Zinc 3.5016936243
MESH:D002418 Cattle Diseases Acrylamide 5.2212510666
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 15.007505956
MESH:D002471 Cell Transformation, Neoplastic barium chloride 15.008243401
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 15.0016003739
MESH:D002471 Cell Transformation, Neoplastic Vanadium 15.0017174075
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 5.7517160924
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 2.9819486331 9022650
MESH:D003110 Colonic Neoplasms Vanadium 3.6718155637
MESH:D019465 Craniofacial Abnormalities Zinc 2.4219302082
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.5911906362 8156756 8970840 18759878 11298694 12868966 14531868 2524372
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.283621924 2952479
MESH:D003920 Diabetes Mellitus Zinc 4.0116479319
MESH:D003924 Diabetes Mellitus, Type 2 marker/mechanism 18711366 18711367
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 1.906679447 9328219 18648102 18289764 9022650 18692083 1440618 9653073 6482804 7440962 16192314 11289319 8291058
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 5.7518357618
MESH:D004487 Edema Mustard Gas 3.1111428631 9260866 11402378 11428647
MESH:D019446 Endotoxemia Lipopolysaccharides 4.1715821434 17637181 15328337
MESH:D004890 Erythema Mustard Gas 4.939357497
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.473581430
MESH:D004938 Esophageal Neoplasms Zinc 4.4716543248
MESH:D005334 Fever Lipopolysaccharides 3.829205823 11852909
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 4.796705139
MESH:D005756 Gastritis Zinc 4.5717241300
MESH:D005909 Glioblastoma Ethylnitrosourea 3.6816436596
MESH:D005910 Glioma Ethylnitrosourea 3.4018412241 16357521 16651633
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 3.827505956
MESH:D006130 Growth Disorders Zinc 3.8217217573
MESH:D006333 Heart Failure Isoproterenol 7.3118097624
MESH:D006333 Heart Failure Zinc 7.3117162251
MESH:D006335 Heart Injuries Zinc 5.5417074742
MESH:D016481 Helicobacter Infections Zinc 4.3217241300
MESH:D006463 Hemolytic-Uremic Syndrome Lipopolysaccharides 4.1916366002
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.306705139
MESH:D006527 Hepatolenticular Degeneration Zinc 10.5717276780
MESH:D006527 Hepatolenticular Degeneration Zinc Sulfate 10.5717063115
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 3.7115034207
MESH:D006967 Hypersensitivity Terfenadine 5.042570798
MESH:D006984 Hypertrophy Isoproterenol 4.9912791704
MESH:D020514 Hypokalemic Periodic Paralysis Potassium 5.6319822448
MESH:D007022 Hypotension Isoproterenol 9.056740701
MESH:D007022 Hypotension Zinc Sulfate 9.057265320
MESH:D007247 Infertility, Female Acrylamide 4.9911020651
MESH:D007248 Infertility, Male Acrylamide 4.0815355880 12507653 11020651 15749267
MESH:D007249 Inflammation Bupivacaine 8.0918165598
MESH:D007249 Inflammation Lipopolysaccharides 8.0917255318 17237260 9205823 12878042 17963957
MESH:D007249 Inflammation Mustard Gas 8.0917524151 11428631 11428620 11402378 8975870 9357497 9260866 16001271 11428647
MESH:D019189 Iron Metabolism Disorders Lipopolysaccharides 4.4217255318
MESH:D007511 Ischemia Zinc 4.4116584753
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 4.798074119 9022650
MESH:D029593 Jervell-Lange Nielsen Syndrome marker/mechanism
MESH:D007674 Kidney Diseases Zinc 3.1916960431
MESH:D007676 Kidney Failure, Chronic Zinc 4.2216518626
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 7.106582329
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 7.1017379185
MESH:D016773 Leishmaniasis, Cutaneous Zinc Sulfate 4.0815237267
MESH:D007970 Leukopenia Lipopolysaccharides 4.4715821434
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.0615034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Lipopolysaccharides 2.2512878042
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.091399818 598648 3712494 6587162
MESH:D008114 Liver Neoplasms, Experimental Vanadium 6.0917174075
MESH:D008133 Long QT Syndrome marker/mechanism 17467628
MESH:D008133 Long QT Syndrome Terfenadine 4.918772706
MESH:D008171 Lung Diseases Mustard Gas 3.3018161513 18702808
MESH:D055370 Lung Injury Lipopolysaccharides 3.7921114838
MESH:D008175 Lung Neoplasms Ethylnitrosourea 2.8516019985 6695378 16271038 17703301
MESH:D008175 Lung Neoplasms Mustard Gas 2.853148597 8781369
MESH:D008223 Lymphoma Ethylnitrosourea 3.7815790496
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 4.8215375218
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 6.0910767621 18041768 10838139
MESH:D008325 Mammary Neoplasms, Experimental Zinc 6.0912773700
MESH:D008579 Meningioma Ethylnitrosourea 5.7517943659
MESH:D009203 Myocardial Infarction Isoproterenol 3.7516538859 19595682 16697266 15740881 17052832 16584858 19172585
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.383581430
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 4.1816707424
MESH:D009410 Nerve Degeneration Acrylamide 4.5212387366 11264303 12387367
MESH:D009422 Nervous System Diseases Acrylamide 4.7912507653 12164553
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 2.776679447
MESH:D009442 Neurilemmoma Ethylnitrosourea 5.1917160924 16003739 16651423
MESH:D009503 Neutropenia Mustard Gas 3.767688884 16761898
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.224026338 6482804
MESH:D009837 Oligodendroglioma Ethylnitrosourea 5.7517160924
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 4.793988306
MESH:D010149 Pain, Postoperative Bupivacaine 6.1618165598
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.267296757
MESH:D010523 Peripheral Nervous System Diseases Acrylamide 4.8911510240
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.246228378
MESH:D011014 Pneumonia Lipopolysaccharides 4.3311605937 12224865
MESH:D011041 Poisoning Mustard Gas 3.5915727166
MESH:D011225 Pre-Eclampsia Zinc 4.0017114810
MESH:D011471 Prostatic Neoplasms Zinc 3.8916700911 16517595 16606632 12429649
MESH:D011537 Pruritus Mustard Gas 3.8718058305
MESH:D011654 Pulmonary Edema Isoproterenol 5.0210903255
MESH:D011658 Pulmonary Fibrosis Mustard Gas 2.8417266442 17720292 17894541 17620002 10334151
MESH:D012130 Respiratory Hypersensitivity Lipopolysaccharides 3.5810835634
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 8.453692021
MESH:D012162 Retinal Degeneration Zinc 8.4516584753
MESH:D012221 Rhinitis, Allergic, Perennial Terfenadine 5.688201490
MESH:D029597 Romano-Ward Syndrome marker/mechanism
OMIM:609621 SHORT QT SYNDROME 2 marker/mechanism
MESH:D012871 Skin Diseases Mustard Gas 2.6615451306 12880345 16961503
MESH:D013733 Testicular Diseases Acrylamide 5.0015864552
MESH:D013921 Thrombocytopenia Lipopolysaccharides 3.9715821434
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 4.9315790496
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 2.723712494 6582329 1399818 7505956 6587162
MESH:D014062 Tongue Neoplasms Zinc 4.2016543248
MESH:D016171 Torsades de Pointes Terfenadine 5.468256756
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.198074119
MESH:D014581 Urticaria Terfenadine 5.072569995 2859714 2885854 2565098 2568013
MESH:D018487 Ventricular Dysfunction, Left Isoproterenol 4.8918097624
MESH:D020257 Ventricular Remodeling Isoproterenol 5.4618097624
Pathway ID Pathway Name
KEGG:04971 Gastric acid secretion
KEGG:04972 Pancreatic secretion
KEGG:04974 Protein digestion and absorption
KEGG:05110 Vibrio cholerae infection
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA223
    • Releated gene ID Related gene Name
    PA223KCNQ1
    Releated disease ID Related disease Name
    PA443224Abnormalities, Drug-Induced
    PA446379Death, Sudden, Cardiac
    PA443886Diabetes Mellitus
    PA134850491Transplantation
    PA443459Atrial Fibrillation
    PA443886Diabetes Mellitus
    PA443890Diabetes Mellitus, Type 2
    PA447228congenital long QT syndrome
    PA444807Long QT Syndrome
    PA443829Cystic Fibrosis
    PA446294Torsades de Pointes
    PA447300Acquired Long QT Syndrome (aLQTS)
    PA447184Romano-Ward Syndrome
    Releated drug ID Related drug Name
    PA448383amiodarone
    PA452233antipsychotics
    PA448486arsenic trioxide
    PA448498astemizole
    PA164754755bepridil
    PA448948chloroquine
    PA448964chlorpromazine
    PA449028clarithromycin
    PA449373disopyramide
    PA449389dofetilide
    PA134711056domperidone
    PA449422droperidol
    PA449493erythromycin
    PA449839halofantrine
    PA449841haloperidol
    PA449958ibutilide
    PA450215levomethadyl acetate
    PA450386mesoridazine
    PA450401methadone
    PA450850pentamidine
    PA450965pimozide
    PA451108procainamide
    PA451209quinidine
    PA451457sotalol
    PA451472sparfloxacin
    PA451619terfenadine
    PA451666thioridazine
    PA451578tacrolimus
    PA449011cisapride
    PA449470epinephrine
    PA452604xenobiotics
    PA452249antiarrhythmics, class i and iii
    PA451234repaglinide
    PA451283rosiglitazone
    PA451344sibutramine
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00808 antagonist Indapamide Antihypertensive Agents;Diuretics
    DB01244 antagonist Bepridil Antihypertensive Agents;Vasodilator Agents;Antiarrhythmic Agents;Calcium Channel Blockers;Anti-Arrhythmia Agents
    No data
    No data
    No data

    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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