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CLCN2 (chloride voltage-gated channel 2)

Identity

Alias_nameschloride channel 2
chloride channel, voltage-sensitive 2
Alias_symbol (synonym)CLC2
EJM6
ClC-2
Other aliasCIC-2
ECA2
ECA3
EGI11
EGI3
EGMA
EJM8
LKPAT
clC-2
HGNC (Hugo) CLCN2
LocusID (NCBI) 1181
Atlas_Id 53960
Location 3q27.1  [Link to chromosome band 3q27]
Location_base_pair Starts at 184346185 and ends at 184361651 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CIAO1 (2q11.2) / CLCN2 (3q27.1)CLCN2 (3q27.1) / CIAO1 (2q11.2)SENP2 (3q27.2) / CLCN2 (3q27.1)
SENP2 3q27.2 / CLCN2 3q27.1

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)CLCN2   2020
Cards
Entrez_Gene (NCBI)CLCN2  1181  chloride voltage-gated channel 2
AliasesCIC-2; CLC2; ECA2; ECA3; 
EGI11; EGI3; EGMA; EJM6; EJM8; LKPAT; clC-2
GeneCards (Weizmann)CLCN2
Ensembl hg19 (Hinxton)ENSG00000114859 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000114859 [Gene_View]  chr3:184346185-184361651 [Contig_View]  CLCN2 [Vega]
ICGC DataPortalENSG00000114859
TCGA cBioPortalCLCN2
AceView (NCBI)CLCN2
Genatlas (Paris)CLCN2
WikiGenes1181
SOURCE (Princeton)CLCN2
Genetics Home Reference (NIH)CLCN2
Genomic and cartography
GoldenPath hg38 (UCSC)CLCN2  -     chr3:184346185-184361651 -  3q27.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CLCN2  -     3q27.1   [Description]    (hg19-Feb_2009)
EnsemblCLCN2 - 3q27.1 [CytoView hg19]  CLCN2 - 3q27.1 [CytoView hg38]
Mapping of homologs : NCBICLCN2 [Mapview hg19]  CLCN2 [Mapview hg38]
OMIM600570   607628   615651   
Gene and transcription
Genbank (Entrez)AA524434 AF026004 AK298952 AK302389 AK302759
RefSeq transcript (Entrez)NM_001171087 NM_001171088 NM_001171089 NM_004366
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CLCN2
Cluster EST : UnigeneHs.436847 [ NCBI ]
CGAP (NCI)Hs.436847
Alternative Splicing GalleryENSG00000114859
Gene ExpressionCLCN2 [ NCBI-GEO ]   CLCN2 [ EBI - ARRAY_EXPRESS ]   CLCN2 [ SEEK ]   CLCN2 [ MEM ]
Gene Expression Viewer (FireBrowse)CLCN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1181
GTEX Portal (Tissue expression)CLCN2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51788   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP51788  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51788
Splice isoforms : SwissVarP51788
PhosPhoSitePlusP51788
Domaine pattern : Prosite (Expaxy)CBS (PS51371)   
Domains : Interpro (EBI)CBS_dom    Cl-channel-2    Cl-channel_core    Cl-channel_volt-gated   
Domain families : Pfam (Sanger)Voltage_CLC (PF00654)   
Domain families : Pfam (NCBI)pfam00654   
Conserved Domain (NCBI)CLCN2
DMDM Disease mutations1181
Blocks (Seattle)CLCN2
SuperfamilyP51788
Human Protein AtlasENSG00000114859
Peptide AtlasP51788
HPRD02782
IPIIPI00020504   IPI00290972   IPI00922766   IPI00926166   IPI00925821   
Protein Interaction databases
DIP (DOE-UCLA)P51788
IntAct (EBI)P51788
FunCoupENSG00000114859
BioGRIDCLCN2
STRING (EMBL)CLCN2
ZODIACCLCN2
Ontologies - Pathways
QuickGOP51788
Ontology : AmiGOvoltage-gated chloride channel activity  voltage-gated chloride channel activity  plasma membrane  transport  ion transmembrane transport  chloride channel complex  retina development in camera-type eye  cell differentiation involved in salivary gland development  chloride transmembrane transport  regulation of anion transmembrane transport  
Ontology : EGO-EBIvoltage-gated chloride channel activity  voltage-gated chloride channel activity  plasma membrane  transport  ion transmembrane transport  chloride channel complex  retina development in camera-type eye  cell differentiation involved in salivary gland development  chloride transmembrane transport  regulation of anion transmembrane transport  
Pathways : KEGGMineral absorption   
NDEx NetworkCLCN2
Atlas of Cancer Signalling NetworkCLCN2
Wikipedia pathwaysCLCN2
Orthology - Evolution
OrthoDB1181
GeneTree (enSembl)ENSG00000114859
Phylogenetic Trees/Animal Genes : TreeFamCLCN2
HOVERGENP51788
HOGENOMP51788
Homologs : HomoloGeneCLCN2
Homology/Alignments : Family Browser (UCSC)CLCN2
Gene fusions - Rearrangements
Fusion : MitelmanSENP2/CLCN2 [3q27.2/3q27.1]  [t(3;3)(q27;q27)]  
Fusion: TCGASENP2 3q27.2 CLCN2 3q27.1 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCLCN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CLCN2
dbVarCLCN2
ClinVarCLCN2
1000_GenomesCLCN2 
Exome Variant ServerCLCN2
ExAC (Exome Aggregation Consortium)CLCN2 (select the gene name)
Genetic variants : HAPMAP1181
Genomic Variants (DGV)CLCN2 [DGVbeta]
DECIPHERCLCN2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCLCN2 
Mutations
ICGC Data PortalCLCN2 
TCGA Data PortalCLCN2 
Broad Tumor PortalCLCN2
OASIS PortalCLCN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCLCN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCLCN2
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 CLCN2
DgiDB (Drug Gene Interaction Database)CLCN2
DoCM (Curated mutations)CLCN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CLCN2 (select a term)
intoGenCLCN2
Cancer3DCLCN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600570    607628    615651   
Orphanet102    22320   
MedgenCLCN2
Genetic Testing Registry CLCN2
NextProtP51788 [Medical]
TSGene1181
GENETestsCLCN2
Target ValidationCLCN2
Huge Navigator CLCN2 [HugePedia]
snp3D : Map Gene to Disease1181
BioCentury BCIQCLCN2
ClinGenCLCN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1181
Chemical/Pharm GKB GenePA26547
Clinical trialCLCN2
Miscellaneous
canSAR (ICR)CLCN2 (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCLCN2
EVEXCLCN2
GoPubMedCLCN2
iHOPCLCN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:50:00 CEST 2017

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