AutismKB 2.0

Annotation Details for CLCNKB


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Basic Information Top
Gene Symbol:CLCNKB ( CLCKB,ClC-K2,ClC-Kb,MGC24087,hClC-Kb )
Gene Full Name: chloride channel Kb
Band: 1p36.13
Quick LinksEntrez ID:1188; OMIM: 602023; Uniprot ID:CLCKB_HUMAN; ENSEMBL ID: ENSG00000184908; HGNC ID: 2027
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0005887TAS-integral component of plasma membrane8041726
GO:0034707IEA-chloride channel complex-
GO ID Evidence Qualifier GO_term References
GO:0005247IBA-voltage-gated chloride channel activity-
GO:0005247TAS-voltage-gated chloride channel activity-
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0006810TAS-transport8041726
GO:0007588TAS-excretion9326936
GO:0034220TAS-ion transmembrane transport-
GO:1902476IBA-chloride transmembrane transport-
GO:1903959IEA-regulation of anion transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
CLCNKBhCV1814709 Gene overview in AlzGene
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Animal Model 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