AutismKB 2.0

Annotation Detail for SLC12A6


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Basic Information Top
Gene Symbol:SLC12A6 ( ACCPN,DKFZp434D2135,KCC3,KCC3A,KCC3B )
Gene Full Name: solute carrier family 12 (potassium/chloride transporters), member 6
Band: 15q14
Quick LinksEntrez ID:9990; OMIM: 604878; Uniprot ID:S12A6_HUMAN; ENSEMBL ID: ENSG00000140199; HGNC ID: 10914
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Transmembrane transport of small molecules
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1791Neuropathy
1944Breast cancer
2252Female reproductive cancer
Desease Name
bipolar disorder
PSYCH
agenesis of the corpus callosum
schizophrenia
DEVELOPMENTAL
No data
Desease Name
Agenesis of the corpus callosum with peripheral neuropathy
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of SLC12A6 mRNAincreases expression 19933214
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of SLC12A6 mRNAdecreases expression 18648102
D016572 Cyclosporine Cyclosporine results in decreased expression of SLC12A6 mRNAdecreases expression 20106945
D004128 Dimethylnitrosamine Dimethylnitrosamine results in increased expression of SLC12A6 mRNAincreases expression 17547211
D019800 Phenol Phenol results in increased expression of SLC12A6 mRNAincreases expression 17547211
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SLC12A6 mRNAincreases expression 19933214
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3111752688 14514962 15322242
MESH:D000230 Adenocarcinoma Dimethylnitrosamine 2.9416033868
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 7.483712494
MESH:D000236 Adenoma Dimethylnitrosamine 7.4819555203
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.5411289319 1440618
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001859 Bone Neoplasms Phenol 5.5610556009
MESH:D001913 Bowen's Disease Phenol 6.2719293009
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Dimethylnitrosamine 9.2119555203
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 9.2116835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.773581430 7296757
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.807296757
MESH:D002294 Carcinoma, Squamous Cell Dimethylnitrosamine 3.0216033868
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5218670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.277505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.2712371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.659022650 19486331
MESH:D002779 Cholestasis Cyclosporine 8.6519486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2116354765 15340226 8697196 12621046 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3414669216 17141729
MESH:C536446 Corpus callosum agenesis neuronopathy marker/mechanism
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 15322242 10048152
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.2114531868 11298694 2524372 18759878 11906362 8970840 8156756 12868966
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.842952479 3621924
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 6.729022650 8291058 9653073 18692083 16192314 18648102 7440962 18289764 1440618 6482804 11289319 6679447 9328219
MESH:D056486 Drug-Induced Liver Injury Dimethylnitrosamine 6.728172417
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.7220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4216714409 18230668 15322242
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3310568697 9294722
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.913581430
MESH:D004938 Esophageal Neoplasms Dimethylnitrosamine 4.9117016578
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005234 Fatty Liver Cyclosporine 3.1819224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.546705139
MESH:D005355 Fibrosis Cyclosporine 9.9112639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.9120067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.688708960
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.397505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4711294989 10048152
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8815720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.896705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3116120746 12621046 15340226
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5716959395 8697196 18606429 15340226 16354765
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.3615034207
MESH:D006973 Hypertension Cyclosporine 5.2810903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.2818670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9912200463 12878042
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.548074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.9615604871
MESH:D055623 Keratosis, Actinic Phenol 6.9619293009
MESH:D007674 Kidney Diseases Cyclosporine 2.508314463 18776723 10903974
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 8.176582329
MESH:D007680 Kidney Neoplasms Cyclosporine 8.1712371664
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.3815034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Dimethylnitrosamine 2.6214726149 17534399 16570917 18567088 14568256 15138612 17724770 12918455 16009107 14709902 17666798 15842777 15763062 18210741 15577212 17881167 15479170 17465448 16627068 17640959 16169303 18672772 18629640 16270385 15504291 15864749 18364076 18371158 17198567 15298665 15793283 14659978 15591649 15339415 17719030 15086199 16603200 17196135 15369754 18237412 14643895 16544323 15081153 18637143 15067225 17348192 18239293 15733078 17036385 12925901 15942678 15798949 15492853 15366600 17203207 17432682 18095165 17201889 15383259 16042886 15744066 15571005 15723089 15099470 15161499
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.6212878042
MESH:D017114 Liver Failure, Acute Dimethylnitrosamine 4.7117457977
MESH:D008113 Liver Neoplasms Dimethylnitrosamine 4.9915890375 3113478
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.9916984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 10.966587162 1399818 3712494 598648
MESH:D008114 Liver Neoplasms, Experimental Dimethylnitrosamine 10.9615603536 6150874 1848544
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.9612151625
MESH:D008175 Lung Neoplasms Dimethylnitrosamine 2.5916061637 11884234 19555203
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.5919555203 11884234
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.3116801185
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.573581430
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.9617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5719348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.106679447
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.724026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.543988306
MESH:D010146 Pain Phenol 4.4517610455
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.907296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D010392 Pemphigus Phenol 6.9616522979 17163923
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.996228378
MESH:D010864 Pilonidal Sinus Phenol 6.9619655223 15622588
MESH:D011041 Poisoning Phenol 5.068825745
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.5112371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511399792 11222880 11896295 11118676
MESH:D011565 Psoriasis Cyclosporine 2.3116882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.613692021
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1716192470
MESH:D013088 Spermatocele Phenol 6.1618646496
MESH:D013158 Splenic Diseases Dimethylnitrosamine 5.7912587719
MESH:D013274 Stomach Neoplasms Dimethylnitrosamine 2.4616033868
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.123712494 6582329 7505956 6587162 1399818
MESH:D014277 Trigeminal Neuralgia Phenol 6.9616527771 10223447
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.378074119
MESH:D014605 Uveitis Cyclosporine 4.501336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D014860 Warts Phenol 6.6219122958
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.9617120751
Pathway ID Pathway Name
REACT:15518 Transmembrane transport of small molecules
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00761 - vivalmin 2 tab
No data
Drugbank ID Action Drug Name Description
DB00761 substrate vivalmin 2 tab
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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