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CLCN3 (chloride voltage-gated channel 3)

Identity

Alias_nameschloride channel 3
chloride channel, voltage-sensitive 3
Alias_symbol (synonym)CLC3
ClC-3
Other alias
HGNC (Hugo) CLCN3
LocusID (NCBI) 1182
Atlas_Id 52160
Location 4q33  [Link to chromosome band 4q33]
Location_base_pair Starts at 170541672 and ends at 170644338 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CLCN3 (4q33) / ASIC4 (2q35)CLCN3 (4q33) / CLCN3 (4q33)CLCN3 (4q33) / NFATC3 (16q22.1)
CLCN3 (4q33) / SMAD1 (4q31.21)CLCN3 (4q33) / SMNDC1 (10q25.2)CLCN3 (4q33) / UBE2D3 (4q24)
CLCN3 4q33 / SMAD1 4q31.21CLCN3 4q33 / UBE2D3 4q24

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CLCN3   2021
Cards
Entrez_Gene (NCBI)CLCN3  1182  chloride voltage-gated channel 3
AliasesCLC3; ClC-3
GeneCards (Weizmann)CLCN3
Ensembl hg19 (Hinxton)ENSG00000109572 [Gene_View]  chr4:170541672-170644338 [Contig_View]  CLCN3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000109572 [Gene_View]  chr4:170541672-170644338 [Contig_View]  CLCN3 [Vega]
ICGC DataPortalENSG00000109572
TCGA cBioPortalCLCN3
AceView (NCBI)CLCN3
Genatlas (Paris)CLCN3
WikiGenes1182
SOURCE (Princeton)CLCN3
Genetics Home Reference (NIH)CLCN3
Genomic and cartography
GoldenPath hg19 (UCSC)CLCN3  -     chr4:170541672-170644338 +  4q33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CLCN3  -     4q33   [Description]    (hg38-Dec_2013)
EnsemblCLCN3 - 4q33 [CytoView hg19]  CLCN3 - 4q33 [CytoView hg38]
Mapping of homologs : NCBICLCN3 [Mapview hg19]  CLCN3 [Mapview hg38]
OMIM600580   
Gene and transcription
Genbank (Entrez)AA780395 AB019542 AF029346 AF086418 AF172729
RefSeq transcript (Entrez)NM_001243372 NM_001243374 NM_001829 NM_173872
RefSeq genomic (Entrez)NC_000004 NC_018915 NG_029731 NT_016354 NW_004929320
Consensus coding sequences : CCDS (NCBI)CLCN3
Cluster EST : UnigeneHs.736017 [ NCBI ]
CGAP (NCI)Hs.736017
Alternative Splicing GalleryENSG00000109572
Gene ExpressionCLCN3 [ NCBI-GEO ]   CLCN3 [ EBI - ARRAY_EXPRESS ]   CLCN3 [ SEEK ]   CLCN3 [ MEM ]
Gene Expression Viewer (FireBrowse)CLCN3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1182
GTEX Portal (Tissue expression)CLCN3
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51790   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP51790  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51790
Splice isoforms : SwissVarP51790
PhosPhoSitePlusP51790
Domaine pattern : Prosite (Expaxy)CBS (PS51371)   
Domains : Interpro (EBI)CBS_dom    Cl-channel_core    Cl-channel_volt-gated    Cl_channel-3   
Domain families : Pfam (Sanger)CBS (PF00571)    Voltage_CLC (PF00654)   
Domain families : Pfam (NCBI)pfam00571    pfam00654   
Domain families : Smart (EMBL)CBS (SM00116)  
Conserved Domain (NCBI)CLCN3
DMDM Disease mutations1182
Blocks (Seattle)CLCN3
SuperfamilyP51790
Human Protein AtlasENSG00000109572
Peptide AtlasP51790
HPRD02785
IPIIPI00413568   IPI00965483   IPI00967111   IPI00398349   IPI00965039   IPI00966335   IPI00965881   
Protein Interaction databases
DIP (DOE-UCLA)P51790
IntAct (EBI)P51790
FunCoupENSG00000109572
BioGRIDCLCN3
STRING (EMBL)CLCN3
ZODIACCLCN3
Ontologies - Pathways
QuickGOP51790
Ontology : AmiGOGolgi membrane  voltage-gated chloride channel activity  chloride channel activity  chloride channel activity  protein binding  ATP binding  early endosome  late endosome  Golgi apparatus  plasma membrane  transport  regulation of pH  synaptic vesicle  external side of plasma membrane  cell surface  vesicle membrane  antiporter activity  membrane  integral component of membrane  apical plasma membrane  secretory granule  PDZ domain binding  transport vesicle membrane  cytoplasmic vesicle  early endosome membrane  late endosome membrane  specific granule  protein homodimerization activity  phagocytic vesicle  negative regulation of cell volume  protein heterodimerization activity  endosomal lumen acidification  volume-sensitive chloride channel activity  chloride transmembrane transport  regulation of anion transmembrane transport  
Ontology : EGO-EBIGolgi membrane  voltage-gated chloride channel activity  chloride channel activity  chloride channel activity  protein binding  ATP binding  early endosome  late endosome  Golgi apparatus  plasma membrane  transport  regulation of pH  synaptic vesicle  external side of plasma membrane  cell surface  vesicle membrane  antiporter activity  membrane  integral component of membrane  apical plasma membrane  secretory granule  PDZ domain binding  transport vesicle membrane  cytoplasmic vesicle  early endosome membrane  late endosome membrane  specific granule  protein homodimerization activity  phagocytic vesicle  negative regulation of cell volume  protein heterodimerization activity  endosomal lumen acidification  volume-sensitive chloride channel activity  chloride transmembrane transport  regulation of anion transmembrane transport  
NDEx NetworkCLCN3
Atlas of Cancer Signalling NetworkCLCN3
Wikipedia pathwaysCLCN3
Orthology - Evolution
OrthoDB1182
GeneTree (enSembl)ENSG00000109572
Phylogenetic Trees/Animal Genes : TreeFamCLCN3
HOVERGENP51790
HOGENOMP51790
Homologs : HomoloGeneCLCN3
Homology/Alignments : Family Browser (UCSC)CLCN3
Gene fusions - Rearrangements
Fusion : MitelmanCLCN3/SMAD1 [4q33/4q31.21]  
Fusion : MitelmanCLCN3/SMNDC1 [4q33/10q25.2]  [t(4;10)(q33;q25)]  
Fusion: TCGACLCN3 4q33 SMAD1 4q31.21 BRCA
Fusion: TCGACLCN3 4q33 UBE2D3 4q24 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCLCN3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CLCN3
dbVarCLCN3
ClinVarCLCN3
1000_GenomesCLCN3 
Exome Variant ServerCLCN3
ExAC (Exome Aggregation Consortium)CLCN3 (select the gene name)
Genetic variants : HAPMAP1182
Genomic Variants (DGV)CLCN3 [DGVbeta]
DECIPHER (Syndromes)4:170541672-170644338  ENSG00000109572
CONAN: Copy Number AnalysisCLCN3 
Mutations
ICGC Data PortalCLCN3 
TCGA Data PortalCLCN3 
Broad Tumor PortalCLCN3
OASIS PortalCLCN3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCLCN3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCLCN3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CLCN3
DgiDB (Drug Gene Interaction Database)CLCN3
DoCM (Curated mutations)CLCN3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CLCN3 (select a term)
intoGenCLCN3
Cancer3DCLCN3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600580   
Orphanet
MedgenCLCN3
Genetic Testing Registry CLCN3
NextProtP51790 [Medical]
TSGene1182
GENETestsCLCN3
Huge Navigator CLCN3 [HugePedia]
snp3D : Map Gene to Disease1182
BioCentury BCIQCLCN3
ClinGenCLCN3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1182
Chemical/Pharm GKB GenePA26548
Clinical trialCLCN3
Miscellaneous
canSAR (ICR)CLCN3 (select the gene name)
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCLCN3
EVEXCLCN3
GoPubMedCLCN3
iHOPCLCN3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Mar 30 14:56:45 CEST 2017

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