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CLCN7 (chloride voltage-gated channel 7)

Identity

Alias_namesregulatory subunit 63
Alias_symbol (synonym)CLC-7
OPTA2
CLC7
ClC-7
PPP1R63
Other aliasOPTB4
HGNC (Hugo) CLCN7
LocusID (NCBI) 1186
Atlas_Id 56206
Location 16p13.3  [Link to chromosome band 16p13]
Location_base_pair Starts at 1494934 and ends at 1525085 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
FBRS (16p11.2) / CLCN7 (16p13.3)UNKL (16p13.3) / CLCN7 (16p13.3)

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)CLCN7   2025
Cards
Entrez_Gene (NCBI)CLCN7  1186  chloride voltage-gated channel 7
AliasesCLC-7; CLC7; OPTA2; OPTB4; 
PPP1R63
GeneCards (Weizmann)CLCN7
Ensembl hg19 (Hinxton)ENSG00000103249 [Gene_View]  chr16:1494934-1525085 [Contig_View]  CLCN7 [Vega]
Ensembl hg38 (Hinxton)ENSG00000103249 [Gene_View]  chr16:1494934-1525085 [Contig_View]  CLCN7 [Vega]
ICGC DataPortalENSG00000103249
TCGA cBioPortalCLCN7
AceView (NCBI)CLCN7
Genatlas (Paris)CLCN7
WikiGenes1186
SOURCE (Princeton)CLCN7
Genetics Home Reference (NIH)CLCN7
Genomic and cartography
GoldenPath hg19 (UCSC)CLCN7  -     chr16:1494934-1525085 -  16p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CLCN7  -     16p13.3   [Description]    (hg38-Dec_2013)
EnsemblCLCN7 - 16p13.3 [CytoView hg19]  CLCN7 - 16p13.3 [CytoView hg38]
Mapping of homologs : NCBICLCN7 [Mapview hg19]  CLCN7 [Mapview hg38]
OMIM166600   602727   611490   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001114331 NM_001287
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CLCN7
Cluster EST : UnigeneHs.459649 [ NCBI ]
CGAP (NCI)Hs.459649
Alternative Splicing GalleryENSG00000103249
Gene ExpressionCLCN7 [ NCBI-GEO ]   CLCN7 [ EBI - ARRAY_EXPRESS ]   CLCN7 [ SEEK ]   CLCN7 [ MEM ]
Gene Expression Viewer (FireBrowse)CLCN7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1186
GTEX Portal (Tissue expression)CLCN7
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51798   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP51798  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51798
Splice isoforms : SwissVarP51798
PhosPhoSitePlusP51798
Domaine pattern : Prosite (Expaxy)CBS (PS51371)   
Domains : Interpro (EBI)CBS_dom    Cl-channel_core    Cl-channel_volt-gated    Cl_channel-7   
Domain families : Pfam (Sanger)CBS (PF00571)    Voltage_CLC (PF00654)   
Domain families : Pfam (NCBI)pfam00571    pfam00654   
Domain families : Smart (EMBL)CBS (SM00116)  
Conserved Domain (NCBI)CLCN7
DMDM Disease mutations1186
Blocks (Seattle)CLCN7
SuperfamilyP51798
Human Protein AtlasENSG00000103249
Peptide AtlasP51798
HPRD04103
IPIIPI00020524   IPI00796265   IPI00641148   
Protein Interaction databases
DIP (DOE-UCLA)P51798
IntAct (EBI)P51798
FunCoupENSG00000103249
BioGRIDCLCN7
STRING (EMBL)CLCN7
ZODIACCLCN7
Ontologies - Pathways
QuickGOP51798
Ontology : AmiGOvoltage-gated chloride channel activity  chloride channel activity  ATP binding  lysosomal membrane  lysosomal membrane  transport  response to pH  antiporter activity  membrane  integral component of membrane  chloride ion binding  cytoplasmic vesicle  ion transmembrane transport  chloride transmembrane transport  regulation of anion transmembrane transport  
Ontology : EGO-EBIvoltage-gated chloride channel activity  chloride channel activity  ATP binding  lysosomal membrane  lysosomal membrane  transport  response to pH  antiporter activity  membrane  integral component of membrane  chloride ion binding  cytoplasmic vesicle  ion transmembrane transport  chloride transmembrane transport  regulation of anion transmembrane transport  
NDEx NetworkCLCN7
Atlas of Cancer Signalling NetworkCLCN7
Wikipedia pathwaysCLCN7
Orthology - Evolution
OrthoDB1186
GeneTree (enSembl)ENSG00000103249
Phylogenetic Trees/Animal Genes : TreeFamCLCN7
HOVERGENP51798
HOGENOMP51798
Homologs : HomoloGeneCLCN7
Homology/Alignments : Family Browser (UCSC)CLCN7
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCLCN7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CLCN7
dbVarCLCN7
ClinVarCLCN7
1000_GenomesCLCN7 
Exome Variant ServerCLCN7
ExAC (Exome Aggregation Consortium)CLCN7 (select the gene name)
Genetic variants : HAPMAP1186
Genomic Variants (DGV)CLCN7 [DGVbeta]
DECIPHER (Syndromes)16:1494934-1525085  ENSG00000103249
CONAN: Copy Number AnalysisCLCN7 
Mutations
ICGC Data PortalCLCN7 
TCGA Data PortalCLCN7 
Broad Tumor PortalCLCN7
OASIS PortalCLCN7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCLCN7  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCLCN7
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 CLCN7
DgiDB (Drug Gene Interaction Database)CLCN7
DoCM (Curated mutations)CLCN7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CLCN7 (select a term)
intoGenCLCN7
Cancer3DCLCN7(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM166600    602727    611490   
Orphanet255    2530    18682   
MedgenCLCN7
Genetic Testing Registry CLCN7
NextProtP51798 [Medical]
TSGene1186
GENETestsCLCN7
Huge Navigator CLCN7 [HugePedia]
snp3D : Map Gene to Disease1186
BioCentury BCIQCLCN7
ClinGenCLCN7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1186
Chemical/Pharm GKB GenePA26552
Clinical trialCLCN7
Miscellaneous
canSAR (ICR)CLCN7 (select the gene name)
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCLCN7
EVEXCLCN7
GoPubMedCLCN7
iHOPCLCN7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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

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