AutismKB 2.0

Annotation Detail for CLCN2


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Basic Information Top
Gene Symbol:CLCN2 ( CIC-2,CLC2,ECA2,ECA3,EGI11,EGI3,EGMA,EJM6,EJM8 )
Gene Full Name: chloride channel 2
Band: 3q27.1
Quick LinksEntrez ID:1181; OMIM: 600570; Uniprot ID:CLCN2_HUMAN; ENSEMBL ID: ENSG00000114859; HGNC ID: 2020
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1799Epilepsy
1860Brain tumor
2077Sinusitis
1882Malaria
Desease Name
epilepsy
NEUROLOGICAL
No data
Desease Name
Epilepsy, idiopathic generalized, susceptibility to, 11
Epilepsy, juvenile absence, susceptibility to, 2
Epilepsy, juvenile myoclonic, susceptibility to, 8
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of CLCN2 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CLCN2 mRNAaffects expression 16483693
D002251 Carbon Tetrachloride Carbon Tetrachloride results in increased expression of CLCN2 mRNAincreases expression 16644059
D002712 Chlorides CLCN2 protein affects the transport of Chloridesaffects transport 15213059
D002712 Chlorides lubiprostone promotes the reaction [CLCN2 protein affects the transport of Chlorides]affects transport|increases reaction 15213059
C014347 decitabine decitabine results in increased expression of CLCN2 mRNAincreases expression 15251184
C014347 decitabine [Tetrachlorodibenzodioxin co-treated with decitabine] results in increased expression of CLCN2 mRNAaffects cotreatment|increases expression 15251184
D005419 Flavonoids Flavonoids results in increased expression of CLCN2 mRNAincreases expression 18035473
C506401 lubiprostone lubiprostone promotes the reaction [CLCN2 protein affects the transport of Chlorides]affects transport|increases reaction 15213059
C506401 lubiprostone lubiprostone results in increased activity of CLCN2 proteinincreases activity 15213059
C506401 lubiprostone CLCN2 protein affects the susceptibility to lubiprostoneaffects response to substance 18805957
C506401 lubiprostone CLCN2 protein binds to and results in increased activity of lubiprostoneaffects binding|increases activity 18805957
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in decreased expression of CLCN2 mRNA]affects reaction|decreases expression 19482888
D010634 Phenobarbital Phenobarbital results in decreased expression of CLCN2 mRNAdecreases expression 19482888
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of CLCN2 mRNAaffects binding|decreases expression|increases activity 19710929
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with decitabine] results in increased expression of CLCN2 mRNAaffects cotreatment|increases expression 15251184
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 9.106195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.1015322242 11752688 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.8018287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.3018653653
MESH:D018248 Adenoma, Liver Cell Phenobarbital 18.7417620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 18.7416434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 18.7416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1111748828
MESH:D000799 Angioedema Acetaminophen 4.1110982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.3519483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.3512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8715746008
MESH:D001943 Breast Neoplasms decitabine 2.0818320071 19208741
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0820435547
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.9916050911 16097048 18705752 16124888 16192424 3786805 10355542 15673190 16011737 16227642 15700767 15721981
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9316835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.673084413
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 4.6718788625
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 4.6717173139 20007298 20935162 1701930 6705139
MESH:D002294 Carcinoma, Squamous Cell decitabine 2.6319215824
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4518850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 2.6710977129
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.474080065
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3116835633
MESH:D002779 Cholestasis pirinixic acid 2.9519176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.168697196 15340226 16354765 12621046 15668235
MESH:D003110 Colonic Neoplasms decitabine 2.3617616700
MESH:D015179 Colorectal Neoplasms decitabine 2.1018981723
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2114669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 10048152 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 6.3911287661 19923254 10663392 2444490 18713872 14550746 19739265 11529661 12153990 15619225 17906064 12540782 10915739 12594235 12705907 19164858 12392966 11743745 18071297 11739529 14986274 19420014 10774834 16081117 19416960 19085960 16781746 11421492 12958197 16485898 14725611 16177239 17522070 16227642 16109766 15968718 11461765 19370779 11834606 16393943 17562736
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 6.393786805 16177239 6884620 19085960 10092053 2869522 7120509 21278145 19336974 7440962 3732212 10915739 15027814 15968718 7179309 9327722 16227642 17522070 11566570 15998439 6623471 4309450
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.3920420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3619426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8911462148
MESH:D004421 Dystonia Phenobarbital 4.191851702
MESH:D004487 Edema pirinixic acid 7.1112083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.1112711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1715322242 16714409 18230668
MESH:D004701 Endocrine Gland Neoplasms decitabine 5.3819294695
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.189294722 10568697
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.323659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.1411558140 3922381
MESH:D004827 Epilepsy Phenobarbital 2.9720417680
MESH:D004832 Epilepsy, Absence marker/mechanism
MESH:D004832 Epilepsy, Absence Phenobarbital 3.696401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.477750514
MESH:D004829 Epilepsy, Generalized marker/mechanism
OMIM:607682 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 marker/mechanism
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.263659116
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1411564622
MESH:D005234 Fatty Liver Carbon Tetrachloride 8.2512795759 16239168 15959796 61145 16045604 19224547 12631006 17595544
MESH:D005234 Fatty Liver pirinixic acid 8.2519236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6711858732
MESH:D005355 Fibrosis Carbon Tetrachloride 9.3318705752
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.3320067830
MESH:D005756 Gastritis Acetaminophen 3.9416983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8610696789
MESH:D006258 Head and Neck Neoplasms decitabine 3.6019215824
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4111294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.6320558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5111000095
MESH:D006505 Hepatitis Carbon Tetrachloride 3.7919900420 19110552
MESH:D006529 Hepatomegaly Phenobarbital 15.6916109766
MESH:D006529 Hepatomegaly pirinixic acid 15.6918467677 19176532 19772884 16221962
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 15.6916120746 15340226 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3118606429 15340226 16354765 8697196 16959395
MESH:D006930 Hyperalgesia Acetaminophen 2.8416870215
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.7716899240
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9618670907 18850075
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.3015338365
MESH:D007248 Infertility, Male decitabine 3.3117581917
MESH:D007249 Inflammation Flavonoids 5.2717296493
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2712200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 2.7416306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5116580747
MESH:D007674 Kidney Diseases Acetaminophen 2.2912587719 15629191
MESH:D007938 Leukemia decitabine 3.1519235587 18980019
MESH:D007951 Leukemia, Myeloid decitabine 4.1719117987 17236224 18454857
MESH:D015470 Leukemia, Myeloid, Acute decitabine 2.4018206229 18704418 19387464 19010910 18460780 17679729
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 5.7318055864
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 6.9317157831 17334410 16943688 17174718 21278145 16221502 16239168 11903743 11408273
MESH:D008103 Liver Cirrhosis Phenobarbital 6.9321047994
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 3.4812632512 17640975 15123356 17698563 15362042 18006644 15996030 12609069 17766677 12445421 17761835 15052691 17631135 18429990 18187930 18418968 12741479 17976157 15730626 15057751 15673190 18166357 16192424 16116963 12586293 14620537 12632514 16033810 18339082 15959796 17708605 16027843 12958196 10355542 12649538 11481614 18395914 18395095 15931870 18481824 18251166 15650968 15338365 12666154 18412020 18317297 16638106 14716833 17805973 18705752 17922224 15925388 16015684 17900296 17557913 16011737 12898905 18054572 15818738 15370692 17481882 13678700 18376398 14724832 12546737 17565644 17869086 18156304 18472332 14716496 17714472 18263696 16136751 20821823 14748882 15876570 18472094 18279442 18277467 17525996 18210741 14512876 12445418 17823541 16248980 12389079 17944888 17721639 12667390 15893842 16097048 18420326 18205269
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.4815474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.4812878042
MESH:D008107 Liver Diseases Acetaminophen 6.7112969438 12587719 19460945 16611625 19014921 11587558 16610002 19784758
MESH:D008107 Liver Diseases Carbon Tetrachloride 6.7115720792 15830285 16964402 16246199 17285989
MESH:D008107 Liver Diseases Phenobarbital 6.7119363144
MESH:D017093 Liver Failure Carbon Tetrachloride 4.3815123358
MESH:D017114 Liver Failure, Acute Acetaminophen 9.9517185352 16871587
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 9.9516899240 14706259
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 11.1619294768
MESH:D008113 Liver Neoplasms Phenobarbital 11.1621047994 19812893 19073162 19482888 15975961 8742319
MESH:D008113 Liver Neoplasms pirinixic acid 11.1616377806 15890375 20007298
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.1616984957
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 10.4015583823 12014681
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 10.406150874 17172636 18308698 1399818 2563599
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.4012151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008223 Lymphoma decitabine 3.5419470736
MESH:D008545 Melanoma decitabine 2.2617785578 16505122
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7819513568
MESH:D009101 Multiple Myeloma decitabine 3.4618172295
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
MESH:D009190 Myelodysplastic Syndromes decitabine 3.4718608210 19157545 16882708 19010910
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:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.7117484760
MESH:D020190 Myoclonic Epilepsy, Juvenile marker/mechanism
MESH:D009369 Neoplasms decitabine 5.2817925555 19116145 19470736
MESH:D009369 Neoplasms pirinixic acid 5.2817405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4114600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0118514411
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D010018 Osteomalacia Phenobarbital 4.6017016548
MESH:D010051 Ovarian Neoplasms decitabine 2.6919259094 19331143
MESH:D010146 Pain Acetaminophen 2.5316870215
MESH:D010190 Pancreatic Neoplasms decitabine 5.5719294695
MESH:D010190 Pancreatic Neoplasms Phenobarbital 5.5716965848
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5112520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7618163543
MESH:D011230 Precancerous Conditions Phenobarbital 3.772563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4311222880 11896295 11399792 11118676
MESH:D055728 Primary Myelofibrosis decitabine 4.9417616702
MESH:D019310 Pseudolymphoma Phenobarbital 4.7612752131
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0418990726
MESH:D012208 Rhabdomyosarcoma decitabine 4.5919155313
MESH:D012640 Seizures Phenobarbital 2.803137016 11442880 16876388 4039156
MESH:D003294 Seizures, Febrile Phenobarbital 5.066407741
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1116192470
MESH:D013274 Stomach Neoplasms decitabine 2.1019037991
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1712697716
MESH:D013964 Thyroid Neoplasms decitabine 7.7517967635
MESH:D013964 Thyroid Neoplasms Phenobarbital 7.751399818
MESH:D001749 Urinary Bladder Neoplasms decitabine 2.7817616700 19087683
MESH:D014581 Urticaria Acetaminophen 3.1610982225
MESH:D014604 Uveal Neoplasms decitabine 5.1817785578
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5115886252
Pathway ID Pathway Name
KEGG:04978 Mineral absorption
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB01046 agonist Lubiprostone Anti-constipation Agents
No data
No data
No data

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  (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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