Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CLCN4 (chloride voltage-gated channel 4)

Identity

Alias_nameschloride channel 4
chloride channel, voltage-sensitive 4
Alias_symbol (synonym)CLC4
ClC-4
Other aliasClC-4A
HGNC (Hugo) CLCN4
LocusID (NCBI) 1183
Atlas_Id 46770
Location Xp22.2  [Link to chromosome band Xp22]
Location_base_pair Starts at 10124985 and ends at 10205699 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
B3GNTL1 (17q25.3) / CLCN4 (Xp22.2)CLCN4 (Xp22.2) / APP (21q21.3)CLCN4 (Xp22.2) / CLCN4 (Xp22.2)
PRKX (Xp22.33) / CLCN4 (Xp22.2)B3GNTL1 17q25.3 / CLCN4 Xp22.2PRKX Xp22.33 / CLCN4 Xp22.2

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)CLCN4   2022
Cards
Entrez_Gene (NCBI)CLCN4  1183  chloride voltage-gated channel 4
AliasesCLC4; ClC-4; ClC-4A
GeneCards (Weizmann)CLCN4
Ensembl hg19 (Hinxton)ENSG00000073464 [Gene_View]  chrX:10124985-10205699 [Contig_View]  CLCN4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000073464 [Gene_View]  chrX:10124985-10205699 [Contig_View]  CLCN4 [Vega]
ICGC DataPortalENSG00000073464
TCGA cBioPortalCLCN4
AceView (NCBI)CLCN4
Genatlas (Paris)CLCN4
WikiGenes1183
SOURCE (Princeton)CLCN4
Genetics Home Reference (NIH)CLCN4
Genomic and cartography
GoldenPath hg19 (UCSC)CLCN4  -     chrX:10124985-10205699 +  Xp22.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CLCN4  -     Xp22.2   [Description]    (hg38-Dec_2013)
EnsemblCLCN4 - Xp22.2 [CytoView hg19]  CLCN4 - Xp22.2 [CytoView hg38]
Mapping of homologs : NCBICLCN4 [Mapview hg19]  CLCN4 [Mapview hg38]
OMIM302910   
Gene and transcription
Genbank (Entrez)AB019432 AF052117 AF170492 AK225287 AK289564
RefSeq transcript (Entrez)NM_001256944 NM_001830
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_012496 NT_167197 NW_004929438
Consensus coding sequences : CCDS (NCBI)CLCN4
Cluster EST : UnigeneHs.495674 [ NCBI ]
CGAP (NCI)Hs.495674
Alternative Splicing GalleryENSG00000073464
Gene ExpressionCLCN4 [ NCBI-GEO ]   CLCN4 [ EBI - ARRAY_EXPRESS ]   CLCN4 [ SEEK ]   CLCN4 [ MEM ]
Gene Expression Viewer (FireBrowse)CLCN4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1183
GTEX Portal (Tissue expression)CLCN4
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51793   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP51793  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51793
Splice isoforms : SwissVarP51793
PhosPhoSitePlusP51793
Domaine pattern : Prosite (Expaxy)CBS (PS51371)   
Domains : Interpro (EBI)CBS_dom    Cl-channel_core    Cl-channel_volt-gated    Cl_channel-4   
Domain families : Pfam (Sanger)CBS (PF00571)    Voltage_CLC (PF00654)   
Domain families : Pfam (NCBI)pfam00571    pfam00654   
Domain families : Smart (EMBL)CBS (SM00116)  
Conserved Domain (NCBI)CLCN4
DMDM Disease mutations1183
Blocks (Seattle)CLCN4
SuperfamilyP51793
Human Protein AtlasENSG00000073464
Peptide AtlasP51793
HPRD02362
IPIIPI00294055   IPI01009328   IPI00747553   IPI00640282   IPI00641777   
Protein Interaction databases
DIP (DOE-UCLA)P51793
IntAct (EBI)P51793
FunCoupENSG00000073464
BioGRIDCLCN4
STRING (EMBL)CLCN4
ZODIACCLCN4
Ontologies - Pathways
QuickGOP51793
Ontology : AmiGOvoltage-gated chloride channel activity  chloride channel activity  ATP binding  transport  chloride transport  endosome membrane  antiporter activity  integral component of membrane  early endosome membrane  late endosome membrane  ion transmembrane transport  chloride transmembrane transport  regulation of anion transmembrane transport  regulation of anion transmembrane transport  
Ontology : EGO-EBIvoltage-gated chloride channel activity  chloride channel activity  ATP binding  transport  chloride transport  endosome membrane  antiporter activity  integral component of membrane  early endosome membrane  late endosome membrane  ion transmembrane transport  chloride transmembrane transport  regulation of anion transmembrane transport  regulation of anion transmembrane transport  
NDEx NetworkCLCN4
Atlas of Cancer Signalling NetworkCLCN4
Wikipedia pathwaysCLCN4
Orthology - Evolution
OrthoDB1183
GeneTree (enSembl)ENSG00000073464
Phylogenetic Trees/Animal Genes : TreeFamCLCN4
HOVERGENP51793
HOGENOMP51793
Homologs : HomoloGeneCLCN4
Homology/Alignments : Family Browser (UCSC)CLCN4
Gene fusions - Rearrangements
Fusion : MitelmanB3GNTL1/CLCN4 [17q25.3/Xp22.2]  [t(X;17)(p22;q25)]  
Fusion : MitelmanPRKX/CLCN4 [Xp22.33/Xp22.2]  [t(X;X)(p22;p22)]  
Fusion: TCGAB3GNTL1 17q25.3 CLCN4 Xp22.2 BRCA
Fusion: TCGAPRKX Xp22.33 CLCN4 Xp22.2 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCLCN4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CLCN4
dbVarCLCN4
ClinVarCLCN4
1000_GenomesCLCN4 
Exome Variant ServerCLCN4
ExAC (Exome Aggregation Consortium)CLCN4 (select the gene name)
Genetic variants : HAPMAP1183
Genomic Variants (DGV)CLCN4 [DGVbeta]
DECIPHER (Syndromes)X:10124985-10205699  ENSG00000073464
CONAN: Copy Number AnalysisCLCN4 
Mutations
ICGC Data PortalCLCN4 
TCGA Data PortalCLCN4 
Broad Tumor PortalCLCN4
OASIS PortalCLCN4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCLCN4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCLCN4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch CLCN4
DgiDB (Drug Gene Interaction Database)CLCN4
DoCM (Curated mutations)CLCN4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CLCN4 (select a term)
intoGenCLCN4
Cancer3DCLCN4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM302910   
Orphanet3256   
MedgenCLCN4
Genetic Testing Registry CLCN4
NextProtP51793 [Medical]
TSGene1183
GENETestsCLCN4
Huge Navigator CLCN4 [HugePedia]
snp3D : Map Gene to Disease1183
BioCentury BCIQCLCN4
ClinGenCLCN4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1183
Chemical/Pharm GKB GenePA26549
Clinical trialCLCN4
Miscellaneous
canSAR (ICR)CLCN4 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCLCN4
EVEXCLCN4
GoPubMedCLCN4
iHOPCLCN4
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 : Tue Mar 14 13:00:42 CET 2017

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