AutismKB 2.0

Annotation Details for CLCN5


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Basic Information Top
Gene Symbol:CLCN5 ( CLC5,CLCK2,DENTS,NPHL1,NPHL2,XLRH,XRN,hCIC-K2,hClC-K2 )
Gene Full Name: chloride channel 5
Band: Xp11.23
Quick LinksEntrez ID:1184; OMIM: 300008; Uniprot ID:CLCN5_HUMAN; ENSEMBL ID: ENSG00000171365; HGNC ID: 2023
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139IEA-Golgi membrane-
GO:0005765IDA-lysosomal membrane17897319
GO:0005768IBA-endosome-
GO:0005794IDA-Golgi apparatus-
GO:0005829IDA-cytosol-
GO:0005886IDA-plasma membrane-
GO:0005887TAS-integral component of plasma membrane8559248
GO:0010008TAS-endosome membrane-
GO:0016020IDA-membrane14675051
GO:0045177IDA-apical part of cell14675051
GO ID Evidence Qualifier GO_term References
GO:0005247IBA-voltage-gated chloride channel activity-
GO:0005254TAS-chloride channel activity8559248
GO:0005524IEA-ATP binding-
GO:0015297TAS-antiporter activity-
GO ID Evidence Qualifier GO_term References
GO:0006810TAS-transport8559248
GO:0007588TAS-excretion8559248
GO:0034220TAS-ion transmembrane transport-
GO:1902476IEA-chloride transmembrane transport-
GO:1903959IEA-regulation of anion transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:99486
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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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