AutismKB 2.0

Annotation Detail for KCNQ3


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Basic Information Top
Gene Symbol:KCNQ3 ( BFNC2,EBN2,KV7.3 )
Gene Full Name: potassium voltage-gated channel, KQT-like subfamily, member 3
Band: 8q24.22
Quick LinksEntrez ID:3786; OMIM: 602232; Uniprot ID:KCNQ3_HUMAN; ENSEMBL ID: ENSG00000184156; HGNC ID: 6297
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1712Yersinia infection
1866Sudden infant death syndrome
1966Myoclonic epilepsy, Juvenile
No data
No data
Desease Name
Epilepsy, benign neonatal, type 2
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D020106 Acrylamide Acrylamide analog affects the activity of [KCNQ2 protein binds to KCNQ3 protein]affects activity|affects binding 16904708
D000643 Ammonium Chloride Ammonium Chloride affects the expression of KCNQ3 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
D002251 Carbon Tetrachloride Carbon Tetrachloride results in decreased expression of KCNQ3 mRNAdecreases expression 16644059
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of KCNQ3 mRNAaffects cotreatment|increases expression 17942748
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 protein binds to KCNQ3 protein]affects activity|affects binding 16904708
C025299 polyphenols polyphenols results in decreased expression of KCNQ3 mRNAdecreases expression 16293270
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of KCNQ3 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1314514962 15322242 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.8418287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8514692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.6616835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1411748828
MESH:D000799 Angioedema Astemizole 5.982883202
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7815885639
MESH:D001249 Asthma Histamine 3.9516387687
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8915746008
MESH:D001943 Breast Neoplasms Acrylamide 2.4518183576 16253758
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.4520435547
MESH:D001986 Bronchial Spasm Histamine 6.1418298128
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.0415700767 10355542 15721981 16050911 16227642 16124888 15673190 16011737 16097048 18705752 3786805 16192424
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9616835633
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 1.8518788625
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4716120746 18670907 18850075
MESH:D002418 Cattle Diseases Acrylamide 5.7712510666
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3416835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0217333356 16919318 15861022 16105132 11677210 17110522 17681005
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1815340226 12621046 8697196 15668235 16354765
MESH:D003110 Colonic Neoplasms polyphenols 2.7016293270
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 10048152 15322242
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D004244 Dizziness Astemizole 6.783105558
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 6.5919085960 15998439 16227642 7120509 10092053 6623471 21278145 3732212 2869522 19336974 16177239 7179309 10915739 15027814 9327722 3786805 7440962 11566570 4309450 6884620 15968718 17522070
MESH:D056486 Drug-Induced Liver Injury polyphenols 6.5919370779
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.5920420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9111462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5811000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2216714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.4212538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.219294722 10568697
MESH:D004802 Eosinophilia Astemizole 10.691355641
MESH:D004802 Eosinophilia Histamine 10.6912689652
MESH:D020936 Epilepsy, Benign Neonatal marker/mechanism
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1611564622
MESH:D005234 Fatty Liver Carbon Tetrachloride 8.3912795759 16239168 12631006 17595544 15959796 16045604 61145 19224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.3915345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D005355 Fibrosis Carbon Tetrachloride 9.4718705752
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.4720067830
MESH:D005499 Folliculitis Astemizole 6.231671328
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4311294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006505 Hepatitis Carbon Tetrachloride 3.8319110552 19900420
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.1516120746 15340226 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3615340226 16354765 8697196 16959395 18606429
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.8216899240
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9718670907 18850075
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.3515338365
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0716945680 16569931
MESH:D007247 Infertility, Female Acrylamide 11.1411020651
MESH:D007247 Infertility, Female Ethinyl Estradiol 11.1412013081
MESH:D007248 Infertility, Male Acrylamide 7.5412507653 15749267 15355880 11020651
MESH:D007248 Infertility, Male Ethinyl Estradiol 7.5417937319
MESH:D007249 Inflammation polyphenols 5.4716366677
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.4712200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5416580747
MESH:D017513 Lichen Nitidus Astemizole 6.782563723
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.9117157831 11408273 17174718 16943688 17334410 11903743 16221502 21278145 16239168
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 2.3414716833 17557913 15362042 15730626 18395095 15370692 15959796 18376398 15052691 18277467 15123356 12898905 17976157 18156304 17766677 17823541 18166357 17869086 18481824 17714472 18420326 17922224 17565644 16638106 16033810 12389079 16027843 12666154 15931870 12445421 12609069 15673190 17944888 18472332 15057751 14512876 18705752 16015684 18279442 15818738 15996030 18418968 16116963 14716496 17631135 12667390 12632512 18054572 16192424 17525996 17721639 16136751 10355542 14620537 14724832 12632514 18263696 17640975 12741479 18395914 16097048 17761835 12586293 17481882 15893842 17805973 16011737 18210741 17900296 14748882 15650968 18251166 11481614 17708605 18429990 18472094 20821823 17698563 18317297 18412020 18187930 16248980 18205269 12649538 18339082 18006644 12958196 12546737 13678700 12445418 15338365 15925388 15876570
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3412878042
MESH:D008107 Liver Diseases Carbon Tetrachloride 4.4715830285 17285989 16246199 16964402 15720792
MESH:D008107 Liver Diseases polyphenols 4.4716698588
MESH:D017093 Liver Failure Carbon Tetrachloride 4.4215123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.8816899240 14706259
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 4.6219294768
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6216984957
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 6.1612014681 15583823
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.1612151625
MESH:D008133 Long QT Syndrome Astemizole 4.7518472280 11989578
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D008288 Malaria Astemizole 4.8716816845
MESH:D008545 Melanoma Histamine 3.5217709802
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1812213967
MESH:D009410 Nerve Degeneration Acrylamide 4.8512387366 11264303 12387367
MESH:D009422 Nervous System Diseases Acrylamide 5.1712164553 12507653
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4514600291
MESH:D009759 Nystagmus, Pathologic Astemizole 6.786135121
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9111578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D010523 Peripheral Nervous System Diseases Acrylamide 5.3511510240
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4811222880 11399792 11118676 11896295
MESH:D011537 Pruritus Ethinyl Estradiol 3.6016919318 15861022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012220 Rhinitis Histamine 5.1712689652
MESH:D012221 Rhinitis, Allergic, Perennial Astemizole 5.7410822083
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1316192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.2616709447
MESH:D013705 Temporomandibular Joint Disorders polyphenols 5.5717997062
MESH:D013733 Testicular Diseases Acrylamide 5.5115864552
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3315669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2212697716
MESH:D016171 Torsades de Pointes Astemizole 5.499583453 8256756
MESH:D014581 Urticaria Astemizole 10.542859714 2565098 2885854 1976298 3097109 3080510 3134034 2568189 1683191 2568013 2883202 2147912
MESH:D014581 Urticaria Histamine 10.5418298128
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5414692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7514671159 15869587
MESH:D014717 Vertigo Astemizole 6.783105558
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
Pathway ID Pathway Name
REACT:18266 Axon guidance
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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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