AutismKB 2.0

Annotation Detail for SLC12A3


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Basic Information Top
Gene Symbol:SLC12A3 ( FLJ96318,NCCT,TSC )
Gene Full Name: solute carrier family 12 (sodium/chloride transporters), member 3
Band: 16q13
Quick LinksEntrez ID:6559; OMIM: 600968; Uniprot ID:S12A3_HUMAN; ENSEMBL ID: ENSG00000070915; HGNC ID: 10912
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
Pathway IDPathway Name
500337Cation-coupled Chloride cotransporters
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1904Diabetes mellitus
2091Hypertension
Desease Name
HDL cholesterol
CARDIOVASCULAR
nephropathy in other diseases
nephropathy, diabetic
RENAL
hypertension
METABOLIC
No data
Desease Name
Gitelman syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SLC12A3 mRNAaffects expression 16483693
D002251 Carbon Tetrachloride Carbon Tetrachloride results in decreased expression of SLC12A3 mRNAdecreases expression 17805973
D002251 Carbon Tetrachloride Carbon Tetrachloride results in increased expression of SLC12A3 proteinincreases expression 15673309
C414690 eplerenone eplerenone inhibits the reaction [AGT protein results in increased phosphorylation of SLC12A3 protein]decreases reaction|increases phosphorylation 20175999
D005839 Gentamicins Gentamicins affects the expression of SLC12A3 proteinaffects expression 16850027
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of SLC12A3 mRNAaffects cotreatment|increases expression 17183730
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of SLC12A3 mRNAaffects cotreatment|increases expression 17183730
C081489 valsartan valsartan inhibits the reaction [AGT protein results in increased phosphorylation of SLC12A3 protein]decreases reaction|increases phosphorylation 20175999
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.888875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.2119490988
MESH:D000138 Acidosis Ammonium Chloride 3.9518287403
MESH:D058186 Acute Kidney Injury Gentamicins 4.8211274264
MESH:D000550 Amblyopia Valproic Acid 5.6817688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.7917497229
MESH:D001321 Autistic Disorder Valproic Acid 1.9918177632 17157402 18396377 17507914 18558336 20603192 19232924 17688650 18940202 18316065 18775368 18985861 19460635 15238991 16609825
MESH:D001714 Bipolar Disorder Valproic Acid 3.2020046352 17594078
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.578888407
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.143786805 16097048 16192424 16124888 15700767 16011737 15673190 16050911 18705752 15721981 10355542 16227642
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 1.8518788625
MESH:D006332 Cardiomegaly valsartan 4.3219597038
MESH:D009202 Cardiomyopathies valsartan 4.6116247790
MESH:D002318 Cardiovascular Diseases valsartan 4.4811230374
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7920734317
MESH:D003324 Coronary Artery Disease valsartan 3.9817719468
MESH:D003384 Coxsackievirus Infections valsartan 6.2420392896
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.908888407 17688650 16575769
MESH:D003921 Diabetes Mellitus, Experimental valsartan 4.8311508273
MESH:D003928 Diabetic Nephropathies valsartan 5.0411427623 18630688
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 4.1810092053 2869522 6623471 10915739 11566570 7440962 17522070 21278145 3732212 16227642 15968718 7179309 7120509 15027814 6884620 16177239 9327722 19085960 15998439 3786805 19336974 4309450
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 4.181733752 19641884
MESH:D004362 Drug Toxicity Gentamicins 4.6411033412 15033597
MESH:D004421 Dystonia Valproic Acid 4.351851702
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.513659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.3616628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.0620417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.847562514 6254150 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.667750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.463659116
MESH:D005234 Fatty Liver Carbon Tetrachloride 8.8316045604 15959796 12795759 61145 12631006 19224547 17595544 16239168
MESH:D005234 Fatty Liver Valproic Acid 8.8314986274 19224547
MESH:D005315 Fetal Diseases Valproic Acid 5.3316575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.4618558336 8888407
MESH:D005355 Fibrosis Carbon Tetrachloride 10.4918705752
MESH:D005355 Fibrosis valsartan 10.4916893502
MESH:D053579 Gitelman Syndrome marker/mechanism
MESH:D015432 Glomerulonephritis, Membranoproliferative valsartan 5.8716928621
MESH:D034381 Hearing Loss Gentamicins 5.1318024279 19130971 17868369 15968427
MESH:D006333 Heart Failure valsartan 4.4119027736
MESH:D006505 Hepatitis Carbon Tetrachloride 3.9219900420 19110552
MESH:D006849 Hydrocephalus Valproic Acid 5.2617688650
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.9316899240
MESH:D053565 Hypercalciuria Gentamicins 6.1017652376
MESH:D006973 Hypertension valsartan 3.8110903974 12850387 20102058 11427623 18344623 18390891 12692753 16475468
MESH:D006974 Hypertension, Malignant valsartan 6.8511560862
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.4515338365
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.9816612254
MESH:D007673 Kidney Cortex Necrosis Gentamicins 6.1718842672
MESH:D007674 Kidney Diseases Gentamicins 7.4819349640 18289764 17934191
MESH:D007674 Kidney Diseases valsartan 7.4816893502 10903974 12164870
MESH:D007683 Kidney Tubular Necrosis, Acute Gentamicins 5.8211231351
MESH:D016773 Leishmaniasis, Cutaneous Gentamicins 4.6910219319
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1917596541 16294345
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.9411408273 16239168 17157831 21278145 11903743 16221502 16943688 17174718 17334410
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 3.0215959796 18395914 18418968 15931870 18472332 15338365 16033810 16192424 14512876 17557913 17976157 13678700 16015684 16248980 15876570 17761835 14724832 18376398 18339082 17525996 17823541 12649538 14620537 17805973 16011737 18251166 15650968 18210741 20821823 15730626 11481614 18187930 18006644 17714472 18420326 12898905 17640975 18412020 12445421 17708605 12609069 17766677 15362042 12958196 12389079 16638106 18395095 15673190 12741479 12632514 17565644 12632512 18277467 12546737 16116963 17631135 15370692 15818738 18054572 17922224 16027843 17481882 15057751 15893842 15996030 17698563 18279442 18705752 12666154 18166357 18429990 12445418 17869086 10355542 18156304 17721639 18472094 14716833 15052691 17944888 18205269 14748882 18317297 16136751 18481824 15123356 16097048 17900296 12667390 15925388 14716496 18263696 12586293
MESH:D008106 Liver Cirrhosis, Experimental valsartan 3.0216872305 15504291 15619341
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1315720792 16964402 15830285 16246199 17285989
MESH:D017093 Liver Failure Carbon Tetrachloride 4.5215123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.9516899240 14706259
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 2.3019294768
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 2.7715583823 12014681
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.7017228818
MESH:D008881 Migraine Disorders Valproic Acid 3.3818765137 18803445
MESH:D009137 Muscular Dystrophy, Animal Gentamicins 6.7218694830
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.318888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3017596541
MESH:D009436 Neural Tube Defects Valproic Acid 3.3016359493 8888407
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.2320603192
MESH:D011507 Proteinuria Gentamicins 11.0315033597
MESH:D011507 Proteinuria valsartan 11.0312164870 18344623 17664856
MESH:D019310 Pseudolymphoma Valproic Acid 4.9811422049 12752131
MESH:D011658 Pulmonary Fibrosis valsartan 3.9017241526
MESH:D051437 Renal Insufficiency Gentamicins 5.3517132701 15728788
MESH:D012173 Retinitis Gentamicins 6.7218644591
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.4819155313
MESH:D012559 Schizophrenia Valproic Acid 2.0915737665 19110320
MESH:D012640 Seizures Valproic Acid 2.9115475178 16876388 3137016 14763951 17978042 11738929 11044598 1511512
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9919490988
MESH:D013226 Status Epilepticus Valproic Acid 4.9812833885
MESH:D014178 Translocation, Genetic Valproic Acid 5.6817262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.923119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.008888407
MESH:D020257 Ventricular Remodeling valsartan 6.0919027736
MESH:D015837 Vestibular Diseases Gentamicins 5.8518776599
Pathway ID Pathway Name
REACT:15518 Transmembrane transport of small molecules
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA321
    • Releated gene ID Related gene Name
    PA321SLC12A3
    Releated disease ID Related disease Name
    PA444552Hypertension
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    Releated drug ID Related drug Name
    PA448682bumetanide
    PA451733torasemide
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00436 antagonist Corzide Tab W Nadolol 80mg Antihypertensive Agents;Diuretics;Diuretics, Thiazide;Sodium Chloride Symporter Inhibitors
    DB00524 blocker Metolazone Antihypertensive Agents;Diuretics;Diuretics, Sulfamyl
    DB00562 antagonist Benzthiazide Antihypertensive Agents;Stimulants;Diuretics
    DB00880 antagonist Supres 250 Tab Antihypertensive Agents;Diuretics;Diuretics, Thiazide;Sodium Chloride Symporter Inhibitors
    DB00999 antagonist Hydrochlorothiazide Antihypertensive Agents;Diuretics;Sodium Chloride Symporter Inhibitors
    DB01119 unknown Diazoxide Antihypertensive Agents;Vasodilator Agents;Diuretics, Thiazide
    DB01324 blocker Polythiazide Antihypertensive Agents;Diuretics;Sodium Chloride Symporter Inhibitors
    DB01325 antagonist Hydromox R Antihypertensive Agents;Diuretics, Thiazide
    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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