AutismKB 2.0

Annotation Detail for KCNH3


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Basic Information Top
Gene Symbol:KCNH3 ( BEC1,ELK2,KIAA1282,Kv12.2 )
Gene Full Name: potassium voltage-gated channel, subfamily H (eag-related), member 3
Band: 12q13.12
Quick LinksEntrez ID:23416; OMIM: 604527; Uniprot ID:KCNH3_HUMAN; ENSEMBL ID: ENSG00000135519; HGNC ID: 6252
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C035207 4-amino-2,6-dinitrotoluene 4-amino-2,6-dinitrotoluene affects the expression of KCNH3 mRNAaffects expression 21346803
D001464 Barium Barium binds to and results in decreased activity of KCNH3 proteinaffects binding|decreases activity 12193184
D002586 Cesium Cesium binds to and results in decreased activity of KCNH3 proteinaffects binding|decreases activity 12193184
D007657 Ketone Bodies Ketone Bodies results in decreased expression of KCNH3 mRNAdecreases expression 16807920
C006253 pirinixic acid pirinixic acid results in increased expression of KCNH3 mRNAincreases expression 18301758
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced 4-amino-2,6-dinitrotoluene 4.497525203
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.0216434500
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5219483382
MESH:D002386 Cataract 4-amino-2,6-dinitrotoluene 3.8114694615
MESH:D002779 Cholestasis pirinixic acid 3.0819176532
MESH:D000013 Congenital Abnormalities 4-amino-2,6-dinitrotoluene 4.4915095906
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D056486 Drug-Induced Liver Injury 4-amino-2,6-dinitrotoluene 2.7121346803
MESH:D004487 Edema pirinixic acid 2.8512083418
MESH:D005234 Fatty Liver pirinixic acid 3.1420131406 19236843
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006529 Hepatomegaly pirinixic acid 3.4819176532 16221962 19772884 18467677
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D007333 Insulin Resistance pirinixic acid 2.8516306350
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9215890375 20007298 16377806
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D009369 Neoplasms pirinixic acid 2.0917405874
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D009784 Occupational Diseases 4-amino-2,6-dinitrotoluene 4.4414694615
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
No data
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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