AutismKB 2.0

Annotation Detail for KCNJ6


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Basic Information Top
Gene Symbol:KCNJ6 ( BIR1,GIRK-2,GIRK2,KATP-2,KATP2,KCNJ7,KIR3.2,MGC126596,hiGIRK2 )
Gene Full Name: potassium inwardly-rectifying channel, subfamily J, member 6
Band: 21q22.13
Quick LinksEntrez ID:3763; OMIM: 600877; Uniprot ID:IRK6_HUMAN; ENSEMBL ID: ENSG00000157542; HGNC ID: 6267
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
P00026Heterotrimeric G-protein signaling pathway-Gi alpha and Gs alpha mediated pathway
P00043Muscarinic acetylcholine receptor 2 and 4 signaling pathway
P00027Heterotrimeric G-protein signaling pathway-Gq alpha and Go alpha mediated pathway
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Related Diseases/Disorders Top
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Desease IDDesease Name
1758Common cold
1951Overnutrition
1983Down syndrome
2026Endemic goiter
2066Lung cancer
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000109 Acetylcholine Acetylcholine promotes the reaction [[KCNJ3 protein co-treated with KCNJ6 protein] results in increased transport of Potassium]affects cotreatment|increases reaction|increases transport 10666054
D001464 Barium Barium inhibits the reaction [[KCNJ3 protein co-treated with KCNJ6 protein] results in increased transport of Potassium]affects cotreatment|decreases reaction|increases transport 10666054
C024986 barium chloride barium chloride inhibits the reaction [[KCNJ3 protein binds to KCNJ6 protein] which results in increased transport of Potassium]affects binding|decreases reaction|increases transport 17021048
C024986 barium chloride barium chloride results in decreased activity of [KCNJ3 protein binds to KCNJ6 protein]affects binding|decreases activity 17021048
D002217 Carbachol [Carbachol binds to and results in increased activity of CHRM2 protein] results in increased activity of [KCNJ3 protein binds to KCNJ6 protein]affects binding|increases activity 17021048
C024989 coenzyme Q10 KCNJ6 gene mutant form results in decreased abundance of coenzyme Q10decreases abundance 15256069
D004298 Dopamine KCNJ6 gene mutant form results in decreased abundance of Dopaminedecreases abundance 15256069
D000431 Ethanol Ethanol results in increased activity of KCNJ6 proteinincreases activity 16626657
D000431 Ethanol Ethanol promotes the reaction [[KCNJ3 protein binds to KCNJ6 protein] which results in increased transport of Potassium]affects binding|increases reaction|increases transport 18977371
D000431 Ethanol Ethosuximide inhibits the reaction [Ethanol promotes the reaction [[KCNJ3 protein binds to KCNJ6 protein] which results in increased transport of Potassium]]affects binding|decreases reaction|increases reaction|increases transport 18977371
D005013 Ethosuximide Ethosuximide inhibits the reaction [[KCNJ3 protein binds to KCNJ6 protein] which results in increased transport of Potassium]affects binding|decreases reaction|increases transport 18977371
D005013 Ethosuximide Ethosuximide inhibits the reaction [Ethanol promotes the reaction [[KCNJ3 protein binds to KCNJ6 protein] which results in increased transport of Potassium]]affects binding|decreases reaction|increases reaction|increases transport 18977371
D017374 Paroxetine Paroxetine results in decreased activity of [KCNJ3 protein binds to KCNJ6 protein]affects binding|decreases activity 17072103
D017374 Paroxetine Paroxetine results in decreased activity of [KCNJ6 protein binds to KCNJ5 protein]affects binding|decreases activity 17072103
D017374 Paroxetine Paroxetine results in decreased activity of [KCNJ6 protein binds to KCNJ6 protein]affects binding|decreases activity 17072103
D011188 Potassium Acetylcholine promotes the reaction [[KCNJ3 protein co-treated with KCNJ6 protein] results in increased transport of Potassium]affects cotreatment|increases reaction|increases transport 10666054
D011188 Potassium Barium inhibits the reaction [[KCNJ3 protein co-treated with KCNJ6 protein] results in increased transport of Potassium]affects cotreatment|decreases reaction|increases transport 10666054
D011188 Potassium [KCNJ3 protein co-treated with KCNJ6 protein] results in increased transport of Potassiumaffects cotreatment|increases transport 10666054
D011188 Potassium KCNJ6 protein results in increased transport of Potassiumincreases transport 11707631
D011188 Potassium barium chloride inhibits the reaction [[KCNJ3 protein binds to KCNJ6 protein] which results in increased transport of Potassium]affects binding|decreases reaction|increases transport 17021048
D011188 Potassium [KCNJ3 protein binds to KCNJ6 protein] which results in increased transport of Potassiumaffects binding|increases transport 17021048
D011188 Potassium Testosterone inhibits the reaction [[KCNJ3 protein binds to KCNJ6 protein] which results in increased transport of Potassium]affects binding|decreases reaction|increases transport 17021048
D011188 Potassium Ethosuximide inhibits the reaction [[KCNJ3 protein binds to KCNJ6 protein] which results in increased transport of Potassium]affects binding|decreases reaction|increases transport 18977371
D011188 Potassium [KCNJ3 protein binds to KCNJ6 protein] which results in increased transport of Potassiumaffects binding|increases transport 18977371
D011188 Potassium Ethanol promotes the reaction [[KCNJ3 protein binds to KCNJ6 protein] which results in increased transport of Potassium]affects binding|increases reaction|increases transport 18977371
D011188 Potassium Ethosuximide inhibits the reaction [Ethanol promotes the reaction [[KCNJ3 protein binds to KCNJ6 protein] which results in increased transport of Potassium]]affects binding|decreases reaction|increases reaction|increases transport 18977371
D011188 Potassium [KCNJ6 protein binds to KCNJ3 protein] which results in increased transport of Potassiumaffects binding|increases transport 18977371
D013739 Testosterone Testosterone inhibits the reaction [[KCNJ3 protein binds to KCNJ6 protein] which results in increased transport of Potassium]affects binding|decreases reaction|increases transport 17021048
D013739 Testosterone Testosterone results in decreased activity of [KCNJ3 protein binds to KCNJ6 protein]affects binding|decreases activity 17021048
D013739 Testosterone AR protein affects the reaction [Testosterone results in decreased activity of [KCNJ3 protein binds to KCNJ6 protein]]affects binding|affects reaction|decreases activity 17021048
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of KCNJ6 mRNAincreases expression 11489354
D014050 Toluene Toluene results in decreased activity of KCNJ6 proteindecreases activity 16626657
C030571 ubiquinone 9 KCNJ6 gene mutant form results in decreased abundance of ubiquinone 9decreases abundance 15256069
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Ethanol 8.7517676605 18926900
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 8.7511752688 15322242 14514962
MESH:D000138 Acidosis Ethanol 4.5811192467
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.4616835633
MESH:D020268 Alcohol-Induced Disorders, Nervous System Ethanol 5.4215451039 15451040
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0011748828
MESH:D000853 Anophthalmos Ethanol 4.8915513904
MESH:D000987 Antisocial Personality Disorder Testosterone 5.957506515
MESH:D001008 Anxiety Disorders Ethanol 4.0511141031
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1012125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.8915340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8015746008
MESH:D001919 Bradycardia Carbachol 5.9812411408
MESH:D001943 Breast Neoplasms Testosterone 2.3617261762
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.3620435547
MESH:D002056 Burns Ethanol 4.7216374292
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8416835633
MESH:D006528 Carcinoma, Hepatocellular Ethanol 2.4018788625 15763234 15289165
MESH:D006332 Cardiomegaly Ethanol 6.9419332462
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 6.9418670907 16120746 18850075
MESH:D002471 Cell Transformation, Neoplastic barium chloride 5.418243401
MESH:D002547 Cerebral Palsy Toluene 5.939294310
MESH:D002659 Child Development Disorders, Pervasive Testosterone 3.6920678186
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2116835633
MESH:D002971 Cleft Lip Ethanol 3.6115513904
MESH:D002972 Cleft Palate Ethanol 6.0215513904
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 6.0215668235 15340226 12621046 8697196 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1114669216 17141729
MESH:D019465 Craniofacial Abnormalities Ethanol 3.9911198716 15451039 10194807 19302082 15451040 15513904 11873399
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 3.9920055451 15322242 10048152
MESH:D019465 Craniofacial Abnormalities Toluene 3.999294310
MESH:D003643 Death Toluene 5.766431079
MESH:D003866 Depressive Disorder Paroxetine 5.2615014590 17072103
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6817107852
MESH:D056486 Drug-Induced Liver Injury Ethanol 3.9811566570
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.9820420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8011462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.4311000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0016714409 15322242 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.0710568697 9294722
MESH:D004828 Epilepsies, Partial Ethosuximide 6.493922381
MESH:D004832 Epilepsy, Absence Ethosuximide 6.117562514 409014 6401628 6426943 6254150
MESH:D004938 Esophageal Neoplasms Ethanol 2.7716704527
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0511564622
MESH:D005234 Fatty Liver Ethanol 3.7919236843 16409862 18620774
MESH:D005235 Fatty Liver, Alcoholic Ethanol 5.7617920746
MESH:D005310 Fetal Alcohol Syndrome Ethanol 5.3816946407 15513904 10194807 15451040
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5311858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.0220067830
MESH:D005391 Firesetting Behavior Testosterone 5.957506515
MESH:D005756 Gastritis Ethanol 4.7915046732
MESH:D005909 Glioblastoma Testosterone 4.0817162496
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.6910696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3610048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.3911000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 2.9616120746 12621046 15340226
MESH:D006628 Hirsutism Testosterone 5.7517019078
MESH:D019584 Hot Flashes Paroxetine 6.0214716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.148697196 16354765 15340226 16959395 18606429
MESH:D006930 Hyperalgesia Ethanol 3.7618783367
MESH:D017588 Hyperandrogenism Testosterone 5.4017019078
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9218670907 18850075
MESH:D007006 Hypogonadism Testosterone 4.6212002444
MESH:D020514 Hypokalemic Periodic Paralysis Potassium 5.9419822448
MESH:D007018 Hypopituitarism Testosterone 6.3017426086
MESH:D007022 Hypotension Dopamine 5.076740701
MESH:D007174 Impulse Control Disorders Testosterone 5.957506515
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.8812200463 12878042
MESH:D007569 Jaw Abnormalities Ethanol 10.3015513904
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 10.3016580747
MESH:D007859 Learning Disorders Ethanol 4.2815451040
MESH:D017880 Limb Deformities, Congenital Ethanol 3.8517676605
MESH:D008103 Liver Cirrhosis Ethanol 3.4015289165
MESH:D008104 Liver Cirrhosis, Alcoholic Ethanol 5.1818295389
MESH:D008106 Liver Cirrhosis, Experimental Ethanol 2.5118166357
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.5112878042
MESH:D008108 Liver Diseases, Alcoholic Ethanol 4.7217207112 17347304
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.7316984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.1412151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D008569 Memory Disorders Ethanol 4.2515451040 18411066
MESH:D001523 Mental Disorders Paroxetine 5.3316856516
MESH:D008607 Mental Retardation Toluene 3.679294310
MESH:D019957 Motor Skills Disorders Toluene 5.299294310
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0612213967
MESH:D009410 Nerve Degeneration marker/mechanism 15256069
MESH:D009410 Nerve Degeneration coenzyme Q10 5.8215256069
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.2814600291
MESH:D009771 Obsessive-Compulsive Disorder Paroxetine 6.1117503984
MESH:D010190 Pancreatic Neoplasms Ethanol 2.9912384795
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3512520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6218163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.2711222880 11118676 11896295 11399792
MESH:D019048 Prostatic Intraepithelial Neoplasia Testosterone 5.1120887781
MESH:D012130 Respiratory Hypersensitivity Acetylcholine 4.289413022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9018990726
MESH:D012640 Seizures Ethanol 10.619754883
MESH:D012640 Seizures Ethosuximide 10.613137016 15475178
MESH:D012640 Seizures Toluene 10.619294310 6431079
MESH:D012735 Sexual Dysfunction, Physiological Testosterone 6.3016631401
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.0716192470
MESH:D013274 Stomach Neoplasms Ethanol 2.3018456281
MESH:D013276 Stomach Ulcer Ethanol 3.589562338 17918041 17189318 11906479 9211565 16755016
MESH:D013375 Substance Withdrawal Syndrome Ethanol 4.309754883
MESH:D013733 Testicular Diseases Toluene 5.0410048760 10514026
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0012697716
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.6912125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3515886252
Pathway ID Pathway Name
REACT:13685 Synaptic Transmission
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA30049
    • No data
    No data
    Releated drug ID Related drug Name
    PA450401methadone
    PA452618opioids
    PA450550morphine
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB01159 inhibitor Halothane Anesthetics, Inhalation;General Anesthetics;Anesthetics
    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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