AutismKB 2.0

Annotation Details for CLCN3


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Basic Information Top
Gene Symbol:CLCN3 ( CLC3,ClC-3 )
Gene Full Name: chloride channel 3
Band: 4q33
Quick LinksEntrez ID:1182; OMIM: 600580; Uniprot ID:CLCN3_HUMAN; ENSEMBL ID: ENSG00000109572; HGNC ID: 2021
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139IEA-Golgi membrane-
GO:0005769IDA-early endosome12471024
GO:0005770IDA-late endosome12471024
GO:0005794IDA-Golgi apparatus12471024
GO:0005886IDA-plasma membrane11274166
GO:0005887IBA-integral component of plasma membrane-
GO:0008021IDA-synaptic vesicle11182090
GO:0009897IDA-external side of plasma membrane11274166
GO:0009986NAS-cell surface12471024
GO:0012506IDA-vesicle membrane12471024
GO:0016020IDA-membrane19946888
GO:0016021TAS-integral component of membrane12471024
GO:0030141IDA-secretory granule16522634
GO:0030658IEA-transport vesicle membrane-
GO:0031410IDA-cytoplasmic vesicle11274166
GO:0031901IEA-early endosome membrane-
GO:0031902IEA-late endosome membrane-
GO:0042581IDA-specific granule16522634
GO:0045335IDA-phagocytic vesicle16522634
GO ID Evidence Qualifier GO_term References
GO:0005247IBA-voltage-gated chloride channel activity-
GO:0005254IDA-chloride channel activity11274166
GO:0005254TAS-chloride channel activity12471024
GO:0005515IPI-protein binding12471024
GO:0005524IEA-ATP binding-
GO:0015297IEA-antiporter activity-
GO:0030165IDA-PDZ domain binding12471024
GO:0042803NAS-protein homodimerization activity12471024
GO:0046982IDA-protein heterodimerization activity12471024
GO:0072320IMP-volume-sensitive chloride channel activity12183454
GO ID Evidence Qualifier GO_term References
GO:0006810TAS-transport7665160
GO:0006885TAS-regulation of pH12471024
GO:0045794IMP-negative regulation of cell volume12183454
GO:0048388TAS-endosomal lumen acidification12471024
GO:1902476IDA-chloride transmembrane transport11274166
GO:1903959IEA-regulation of anion transmembrane transport-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
CLCN3CFTR10759612471024 Reconstituted Complex
CLCN3CFTR10750612471024 Reconstituted Complex
CLCN3CLCN310759612471024 Affinity Capture-Western
PDZK1CLCN311120012471024 Affinity Capture-Western; Reconstituted Complex
PDZK1CLCN310759612471024 Affinity Capture-Western; Reconstituted Complex
GOPCCLCN310759612471024 Reconstituted Complex
GOPCCLCN312138412471024 Reconstituted Complex
SLC9A3R1CLCN310759612471024 Reconstituted Complex
SLC9A3R1CLCN311476912471024 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:103555
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (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


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