AutismKB 2.0

Annotation Details for CLCN7


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Basic Information Top
Gene Symbol:CLCN7 ( CLC-7,CLC7,FLJ26686,FLJ39644,FLJ46423,OPTA2,OPTB4 )
Gene Full Name: chloride channel 7
Band: 16p13.3
Quick LinksEntrez ID:1186; OMIM: 602727; Uniprot ID:CLCN7_HUMAN; ENSEMBL ID: ENSG00000103249; HGNC ID: 2025
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005765IDA-lysosomal membrane17897319
GO:0005765TAS-lysosomal membrane-
GO:0016020IDA-membrane19946888
GO:0016021IEA-integral component of membrane-
GO:0031410IEA-cytoplasmic vesicle-
GO ID Evidence Qualifier GO_term References
GO:0005247IBA-voltage-gated chloride channel activity-
GO:0005254TAS-chloride channel activity8543009
GO:0005524IEA-ATP binding-
GO:0015297IEA-antiporter activity-
GO ID Evidence Qualifier GO_term References
GO:0006810TAS-transport8543009
GO:0009268IEA-response to pH-
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:1347048
  • 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