AutismKB 2.0

Annotation Detail for SLC12A5


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Basic Information Top
Gene Symbol:SLC12A5 ( KCC2,KIAA1176 )
Gene Full Name: solute carrier family 12 (potassium/chloride transporter), member 5
Band: 20q13.12
Quick LinksEntrez ID:57468; OMIM: 606726; Uniprot ID:S12A5_HUMAN; ENSEMBL ID: ENSG00000124140; HGNC ID: 13818
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
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SLC12A5 mRNAaffects expression 16483693
C025299 polyphenols polyphenols results in decreased expression of SLC12A5 mRNAdecreases expression 16293270
D011189 Potassium Chloride Potassium Chloride results in increased expression of SLC12A5 mRNAincreases expression 16412482
D014303 Trinitrotoluene Trinitrotoluene affects the expression of SLC12A5 mRNAaffects expression 21346803
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Trinitrotoluene 4.827525203
MESH:D000138 Acidosis Ammonium Chloride 4.1918287403
MESH:D002386 Cataract Trinitrotoluene 4.0815817613 14694615
MESH:D003110 Colonic Neoplasms polyphenols 2.7216293270
MESH:D000013 Congenital Abnormalities Trinitrotoluene 4.7715095906
MESH:D003490 Cyanosis Trinitrotoluene 5.4818551238
MESH:D056486 Drug-Induced Liver Injury polyphenols 4.7819370779
MESH:D056486 Drug-Induced Liver Injury Trinitrotoluene 4.7821346803 18551238
MESH:D004827 Epilepsy marker/mechanism 12000122
MESH:D006529 Hepatomegaly Trinitrotoluene 4.7915817613
MESH:D007248 Infertility, Male Trinitrotoluene 3.9212150543
MESH:D007249 Inflammation polyphenols 3.2316366677
MESH:D008107 Liver Diseases polyphenols 2.8516698588
MESH:D009336 Necrosis Trinitrotoluene 5.4018551238
MESH:D009784 Occupational Diseases Trinitrotoluene 4.7312819281 17852074 14694615
MESH:D012640 Seizures Trinitrotoluene 3.6918551238
MESH:D013163 Splenomegaly Trinitrotoluene 5.7615817613
MESH:D013705 Temporomandibular Joint Disorders polyphenols 5.9717997062
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
DB00887 antagonist Bumetanide Diuretics;Diuretics, Sulfamyl;Sodium Potassium Chloride Symporter Inhibitors
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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