AutismKB 2.0

Annotation Detail for KCNQ4


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Basic Information Top
Gene Symbol:KCNQ4 ( DFNA2,DFNA2A,KV7.4 )
Gene Full Name: potassium voltage-gated channel, KQT-like subfamily, member 4
Band: 1p34.2
Quick LinksEntrez ID:9132; OMIM: 603537; Uniprot ID:KCNQ4_HUMAN; ENSEMBL ID: ENSG00000117013; HGNC ID: 6298
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1862Conduct disorder
1866Sudden infant death syndrome
2207Deafness
No data
No data
Desease Name
Deafness, autosomal dominant 2A
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D020106 Acrylamide Acrylamide analog results in increased activity of KCNQ4 proteinincreases activity 16904708
D000643 Ammonium Chloride Ammonium Chloride affects the expression of KCNQ4 mRNAaffects expression 16483693
C101866 D 23129 D 23129 results in increased activity of KCNQ4 proteinincreases activity 16904708
C476437 N-(1-(3-morpholin-4-ylphenyl)ethyl)-3-phenylacrylamide N-(1-(3-morpholin-4-ylphenyl)ethyl)-3-phenylacrylamide results in increased activity of KCNQ4 proteinincreases activity 16904708
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.1918287403
MESH:D001943 Breast Neoplasms Acrylamide 3.5616253758 18183576
MESH:D002418 Cattle Diseases Acrylamide 6.1712510666
OMIM:600101 DEAFNESS, AUTOSOMAL DOMINANT 2A marker/mechanism
MESH:D007247 Infertility, Female Acrylamide 5.6711020651
MESH:D007248 Infertility, Male Acrylamide 4.4811020651 12507653 15749267 15355880
MESH:D009410 Nerve Degeneration Acrylamide 5.0012387366 11264303 12387367
MESH:D009422 Nervous System Diseases Acrylamide 5.3512164553 12507653
MESH:D010146 Pain D 23129 6.3812559370
MESH:D010523 Peripheral Nervous System Diseases Acrylamide 5.6111510240
MESH:D013733 Testicular Diseases Acrylamide 5.8615864552
No data
Pharmacogenomics Knowledge Base Top
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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