AutismKB 2.0

Annotation Detail for KCNQ2


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Basic Information Top
Gene Symbol:KCNQ2 ( BFNC,EBN,EBN1,ENB1,HNSPC,KCNA11,KV7.2,KVEBN1 )
Gene Full Name: potassium voltage-gated channel, KQT-like subfamily, member 2
Band: 20q13.33
Quick LinksEntrez ID:3785; OMIM: 602235; Uniprot ID:KCNQ2_HUMAN; ENSEMBL ID: ENSG00000075043; HGNC ID: 6296
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Axon guidance
No data
Pathway IDPathway Name
P00042Muscarinic acetylcholine receptor 1 and 3 signaling pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1866Sudden infant death syndrome
1982Myopathy
No data
No data
Desease Name
Myokymia with neonatal epilepsy
Epilepsy, benign, neonatal, type 1
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D020106 Acrylamide Acrylamide analog affects the activity of KCNQ2 proteinaffects activity 16904708
D020106 Acrylamide Acrylamide analog affects the activity of [KCNQ2 protein binds to KCNQ3 protein]affects activity|affects binding 16904708
D020106 Acrylamide Acrylamide analog results in increased activity of KCNQ2 proteinincreases activity 15603955
15357987
15139767
D000643 Ammonium Chloride Ammonium Chloride affects the expression of KCNQ2 mRNAaffects expression 16483693
D016589 Astemizole Astemizole inhibits the reaction [Histamine results in decreased activity of [KCNQ2 protein co-treated with KCNQ3 protein co-treated with HRH1 protein]]affects cotreatment|decreases activity|decreases reaction 12147327
C055494 caffeic acid phenethyl ester [Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of KCNQ2 mRNAaffects cotreatment|decreases expression 20360939
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of KCNQ2 mRNAaffects cotreatment|decreases expression 20360939
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of KCNQ2 exonincreases mutagenesis 16464983
D005472 Fluorouracil TP53 protein affects the reaction [Fluorouracil results in decreased expression of KCNQ2 mRNA]affects reaction|decreases expression 15016801
D006632 Histamine Astemizole inhibits the reaction [Histamine results in decreased activity of [KCNQ2 protein co-treated with KCNQ3 protein co-treated with HRH1 protein]]affects cotreatment|decreases activity|decreases reaction 12147327
D006632 Histamine Histamine results in decreased activity of [KCNQ2 protein co-treated with KCNQ3 protein co-treated with HRH1 protein]affects cotreatment|decreases activity 12147327
C476437 N-(1-(3-morpholin-4-ylphenyl)ethyl)-3-phenylacrylamide N-(1-(3-morpholin-4-ylphenyl)ethyl)-3-phenylacrylamide affects the activity of KCNQ2 proteinaffects activity 16904708
C476437 N-(1-(3-morpholin-4-ylphenyl)ethyl)-3-phenylacrylamide N-(1-(3-morpholin-4-ylphenyl)ethyl)-3-phenylacrylamide affects the activity of [KCNQ2 protein binds to KCNQ3 protein]affects activity|affects binding 16904708
C476437 N-(1-(3-morpholin-4-ylphenyl)ethyl)-3-phenylacrylamide N-(1-(3-morpholin-4-ylphenyl)ethyl)-3-phenylacrylamide results in increased activity of KCNQ2 proteinincreases activity 15139767
C492891 N-(1-(4-cyclopropylmethyl-3,4-dihydro-2H-benzo(1,4)oxazin-6-yl)ethyl)-3-(2-fluorophenyl)acrylamide N-(1-(4-cyclopropylmethyl-3,4-dihydro-2H-benzo(1,4)oxazin-6-yl)ethyl)-3-(2-fluorophenyl)acrylamide results in increased activity of KCNQ2 proteinincreases activity 15050644
C477185 N-(1-(4-fluoro-3-morpholin-4-ylphenyl)ethyl)-3-(4-fluorophenyl)acrylamide N-(1-(4-fluoro-3-morpholin-4-ylphenyl)ethyl)-3-(4-fluorophenyl)acrylamide results in increased activity of KCNQ2 proteinincreases activity 12930139
C017947 sodium arsenite sodium arsenite results in increased expression of KCNQ2 mRNAincreases expression 17879257
D013749 Tetrachlorodibenzodioxin AHR protein affects the reaction [Tetrachlorodibenzodioxin results in increased expression of KCNQ2 mRNA]affects reaction|increases expression 16891777
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of KCNQ2 mRNAincreases expression 16891777
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.9611752688 15322242 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.6818287403
MESH:D000230 Adenocarcinoma Fluorouracil 2.4417638652
MESH:D000236 Adenoma Diethylnitrosamine 7.1710737359 6695378
MESH:D000236 Adenoma Ethylnitrosourea 7.176695378
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 10.4518056438 17620307 16434500 19061943 17162532 19052882
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.4516835633
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 4.8315276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 5.0417306315 16712894
MESH:D000740 Anemia Fluorouracil 8.9415504547 17963324 16511603
MESH:D000740 Anemia Tetrachlorodibenzodioxin 8.9411748828
MESH:D000799 Angioedema Astemizole 5.802883202
MESH:D001249 Asthma Histamine 3.9216387687
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9215340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8115746008
MESH:D001927 Brain Diseases Ethylnitrosourea 4.9614991843
MESH:D001932 Brain Neoplasms Ethylnitrosourea 4.3716651633 16357521 16436596 18412241 15144691
MESH:D001943 Breast Neoplasms Acrylamide 2.0216253758 18183576
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.0217474063
MESH:D001943 Breast Neoplasms Fluorouracil 2.0215136595 16595493 19217205 18608205 18357371 16557594 16110121
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0220435547
MESH:D001986 Bronchial Spasm Histamine 5.9518298128
MESH:D002276 Carcinoid Tumor Fluorouracil 4.8016051944
MESH:D002277 Carcinoma Fluorouracil 8.4017121937
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 8.4016835633
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 4.7119335982 21159647 18210153 20007298 17055752 16681979 3581430 18691550 17761372 18056438 20214788 16540662 17978847 16807293 17138121 11831363 16502159 16779866 16878318 18971187 16288022 10737359 16569478 16830150 20727157 19394651 19208518 18665156 18393292 19822196 17173139 20512989 19919837 18978308 16935385 19519916 19539802 17428255 19701751 20524982 18506893 20101231 20514400 20084675 18788625 17162532 3084413 16698587 19171122 19383236 19052882 19107877 16328049 18785209 10672840 20935162 19418558 20432363 18494052
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 4.7118930000 17045692 17971768 16332177 17088986 16799960
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 4.7117306315 15276417 16507464
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.0518695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 4.8316280240 17066447 16757204 18986760
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 4.8318572023
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4116120746 18850075 18670907
MESH:D002418 Cattle Diseases Acrylamide 5.5812510666
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 11.6721159647 17174075 2727394 7505956
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 11.6716003739
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 11.6720056578 19524636
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 6.1217160924
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 9.5719052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 9.5716835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1316354765 8697196 12621046 15340226 15668235
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2416510598 17725105 15001691 17018589 18772588 17172411 17016597 17169374 17287894 16340194
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0018288408 18383874 18448328 16331619 16391804 20501625 14970324 17695437 17255274 18509181 17094418 16303861 17594712 17454858 18949393 16282729 17016601 17401013 15289873 15148649 16524972 18802399
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1314669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D007644 Darier Disease Fluorouracil 4.9116733453
MESH:D002658 Developmental Disabilities marker/mechanism 20805988
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 4.2820387270
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.2817107852
MESH:D004244 Dizziness Astemizole 6.603105558
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 3.8019107877
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8020420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8211462148
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 6.1218357618
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.4611000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0416714409 15322242 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1010568697 9294722
MESH:D004802 Eosinophilia Astemizole 10.161355641
MESH:D004802 Eosinophilia Histamine 10.1612689652
MESH:D004827 Epilepsy marker/mechanism 16464983
MESH:D020936 Epilepsy, Benign Neonatal marker/mechanism
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.2516302075
MESH:D004938 Esophageal Neoplasms Fluorouracil 2.4716337965 15173087 16481741 16785472 17638652
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0711564622
MESH:D005234 Fatty Liver Diethylnitrosamine 3.2720387270 21071580
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5611858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.0520067830
MESH:D005499 Folliculitis Astemizole 6.051671328
MESH:D005833 Genital Neoplasms, Female sodium arsenite 4.8016452187
MESH:D005909 Glioblastoma Ethylnitrosourea 3.8816436596
MESH:D005910 Glioma Ethylnitrosourea 6.4516651633 18412241 16357521
MESH:D005910 Glioma Fluorouracil 6.4516145905
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7310696789
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.4415102660 15162350 18337622
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3710048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0015340226 16120746 12621046
MESH:D006689 Hodgkin Disease sodium arsenite 3.2212676792
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.1818606429 15340226 16959395 8697196 16354765
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9318850075 18670907
MESH:D007247 Infertility, Female Acrylamide 5.2911020651
MESH:D007248 Infertility, Male Acrylamide 7.4612507653 15749267 11020651 15355880
MESH:D007248 Infertility, Male sodium arsenite 7.4615346721 12646999
MESH:D007249 Inflammation Diethylnitrosamine 5.0318785209
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.0312878042 12200463
MESH:D007414 Intestinal Neoplasms caffeic acid phenethyl ester 4.6610783313
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4216580747
MESH:D007674 Kidney Diseases caffeic acid phenethyl ester 6.6115369732
MESH:D007674 Kidney Diseases sodium arsenite 6.6120008137
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 8.0617379185
MESH:D007680 Kidney Neoplasms Fluorouracil 8.0616985049
MESH:D015473 Leukemia, Promyelocytic, Acute caffeic acid phenethyl ester 4.0416766008
MESH:D017513 Lichen Nitidus Astemizole 6.602563723
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.8719638242 18665156 18407596 20032147 18522880
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases Diethylnitrosamine 2.1217034775
MESH:D008113 Liver Neoplasms Diethylnitrosamine 10.9519690152 15885732 19638242 2862719 20137499 2422723 12771043 10737359 19812893 20583210 19254457 19073162 19426721 20492335 19294768 19996281 18648771 19090486 12112319 18977376 21047994 19850985 21278145 20434301 18754104 21071580 19499222 19551842 20452335 19255062 20101389 9163691 15175105 21167192 18644402 20405173 19427195 20501860 16942905 20118626 19833225 18978307 19256749 19642983
MESH:D008113 Liver Neoplasms Fluorouracil 10.9515113037 16603448 17045692 18383874
MESH:D008113 Liver Neoplasms sodium arsenite 10.9516712894 15276417
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 10.9516984957
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 5.9318282651 3124819 19004024 19009564 17854601 18775883 2563599 18079962 18308698 18544905 17942915 16267830 16842330 19539802 19519916 18093689 18164116 19126423 18253720 9362446 17174075 21159647
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 5.9312151625
MESH:D008133 Long QT Syndrome Astemizole 4.6618472280 11989578
MESH:D008171 Lung Diseases sodium arsenite 3.2219095001
MESH:D008175 Lung Neoplasms Diethylnitrosamine 6.7020970405 21163286 6695378 20512841
MESH:D008175 Lung Neoplasms Ethylnitrosourea 6.706695378 16271038 17703301 16019985
MESH:D008175 Lung Neoplasms Fluorouracil 6.7015246190
MESH:D008175 Lung Neoplasms sodium arsenite 6.7017306315 15276417 16712894 17077188 19931552
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 6.7011884234 19555203
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 4.9115086387
MESH:D008223 Lymphoma Ethylnitrosourea 4.0015790496
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 5.1515375218
MESH:D008288 Malaria Astemizole 4.7916816845
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 3.5610767621 18041768 10838139
MESH:D008545 Melanoma Histamine 3.9517709802
MESH:D008545 Melanoma sodium arsenite 3.9516487513 19082730
MESH:D008579 Meningioma Ethylnitrosourea 6.1217943659
MESH:D008881 Migraine Disorders N-(1-(4-fluoro-3-morpholin-4-ylphenyl)ethyl)-3-(4-fluorophenyl)acrylamide 6.3112930139
MESH:D009062 Mouth Neoplasms Fluorouracil 3.6918986760 16757204
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0812213967
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.593581430 9029167
MESH:D009369 Neoplasms Fluorouracil 5.3118600527 18239605 16928823
MESH:D009369 Neoplasms sodium arsenite 5.3111559025
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 9.7316707424
MESH:D009374 Neoplasms, Experimental sodium arsenite 9.7320056578
MESH:D009410 Nerve Degeneration Acrylamide 4.7612387366 12387367 11264303
MESH:D009422 Nervous System Diseases marker/mechanism 20805988
MESH:D009422 Nervous System Diseases Acrylamide 5.0612507653 12164553
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3114600291
MESH:D009436 Neural Tube Defects sodium arsenite 3.1912854658
MESH:D009442 Neurilemmoma Ethylnitrosourea 5.5316003739 17160924 16651423
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.4120387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.2520387270
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.4916436463
MESH:D009759 Nystagmus, Pathologic Astemizole 6.606135121
MESH:D009837 Oligodendroglioma Ethylnitrosourea 6.1217160924
MESH:D010051 Ovarian Neoplasms sodium arsenite 2.4617306315 15276417
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 5.4116540662
MESH:D010190 Pancreatic Neoplasms Fluorouracil 5.4116500647 16929163 19003803 15113037
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3812520081
MESH:D010523 Peripheral Nervous System Diseases Acrylamide 5.2011510240
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6518163543
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.622563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3111118676 11399792 11896295 11222880
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.3319082440 18626508
MESH:D011471 Prostatic Neoplasms sodium arsenite 3.3316039940
MESH:D012004 Rectal Neoplasms Fluorouracil 4.0816160472 15538739 18286688 18722050
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9318990726
MESH:D012220 Rhinitis Histamine 5.0512689652
MESH:D012221 Rhinitis, Allergic, Perennial Astemizole 5.5610822083
MESH:D012878 Skin Neoplasms sodium arsenite 5.7119524636 18572023
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.7116192470
MESH:D016135 Spinal Dysraphism sodium arsenite 3.8612854658
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 2.5118456281
MESH:D013274 Stomach Neoplasms Fluorouracil 2.5119084572 18396642 17172411 17522103 16951190 16424979 15786421 18567086 17498489 19015929
MESH:D013733 Testicular Diseases Acrylamide 5.3515864552
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 5.2815790496
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0412697716
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.047505956
MESH:D014062 Tongue Neoplasms Fluorouracil 4.0616280240
MESH:D016171 Torsades de Pointes Astemizole 5.329583453 8256756
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 2.5316712894 16452187 17306315 11723127
MESH:D014581 Urticaria Astemizole 10.092147912 3080510 3097109 2885854 3134034 2568189 2568013 2859714 2565098 1683191 1976298 2883202
MESH:D014581 Urticaria Histamine 10.0918298128
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 9.7416803524
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 9.7411813266
MESH:D014652 Vascular Diseases sodium arsenite 4.5417056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7312125929
MESH:D014717 Vertigo Astemizole 6.603105558
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3815886252
Pathway ID Pathway Name
REACT:18266 Axon guidance
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA30074
    • No data
    Releated disease ID Related disease Name
    PA447199Bipolar Disorder
    Releated drug ID Related drug Name
    PA144997862retigabine
    PA450243lithium
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00321 antagonist Triavil Tab Adrenergic Uptake Inhibitors;Analgesics, Non-Narcotic;Antidepressive Agents, Tricyclic
    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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