Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CLCN5 (chloride voltage-gated channel 5)

Identity

Alias_namesNPHL2
NPHL1
nephrolithiasis 2, X-linked
nephrolithiasis 1 (X-linked)
chloride channel 5
chloride channel, voltage-sensitive 5
Alias_symbol (synonym)DENTS
XLRH
hClC-K2
hCIC-K2
CLC5
XRN
ClC-5
Other aliasCLCK2
HGNC (Hugo) CLCN5
LocusID (NCBI) 1184
Atlas_Id 61853
Location Xp11.23  [Link to chromosome band Xp11]
Location_base_pair Starts at 50067560 and ends at 50099235 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CLCN5 (Xp11.22) / CLCN5 (Xp11.22)HUWE1 (Xp11.22) / CLCN5 (Xp11.22)

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)CLCN5   2023
Cards
Entrez_Gene (NCBI)CLCN5  1184  chloride voltage-gated channel 5
AliasesCLC5; CLCK2; ClC-5; DENTS; 
NPHL1; NPHL2; XLRH; XRN; hCIC-K2
GeneCards (Weizmann)CLCN5
Ensembl hg19 (Hinxton)ENSG00000171365 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171365 [Gene_View]  chrX:50067560-50099235 [Contig_View]  CLCN5 [Vega]
ICGC DataPortalENSG00000171365
TCGA cBioPortalCLCN5
AceView (NCBI)CLCN5
Genatlas (Paris)CLCN5
WikiGenes1184
SOURCE (Princeton)CLCN5
Genetics Home Reference (NIH)CLCN5
Genomic and cartography
GoldenPath hg38 (UCSC)CLCN5  -     chrX:50067560-50099235 +  Xp11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CLCN5  -     Xp11.23   [Description]    (hg19-Feb_2009)
EnsemblCLCN5 - Xp11.23 [CytoView hg19]  CLCN5 - Xp11.23 [CytoView hg38]
Mapping of homologs : NCBICLCN5 [Mapview hg19]  CLCN5 [Mapview hg38]
OMIM300008   300009   300554   308990   310468   
Gene and transcription
Genbank (Entrez)AA743724 AK021494 AK025562 AK056560 AK092049
RefSeq transcript (Entrez)NM_000084 NM_001127898 NM_001127899 NM_001272102 NM_001282163
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CLCN5
Cluster EST : UnigeneHs.745501 [ NCBI ]
CGAP (NCI)Hs.745501
Alternative Splicing GalleryENSG00000171365
Gene ExpressionCLCN5 [ NCBI-GEO ]   CLCN5 [ EBI - ARRAY_EXPRESS ]   CLCN5 [ SEEK ]   CLCN5 [ MEM ]
Gene Expression Viewer (FireBrowse)CLCN5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1184
GTEX Portal (Tissue expression)CLCN5
Human Protein AtlasENSG00000171365-CLCN5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51795   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP51795  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51795
Splice isoforms : SwissVarP51795
PhosPhoSitePlusP51795
Domaine pattern : Prosite (Expaxy)CBS (PS51371)   
Domains : Interpro (EBI)CBS_dom    Cl-channel_core    Cl-channel_volt-gated    Cl_channel-5   
Domain families : Pfam (Sanger)CBS (PF00571)    Voltage_CLC (PF00654)   
Domain families : Pfam (NCBI)pfam00571    pfam00654   
Domain families : Smart (EMBL)CBS (SM00116)  
Conserved Domain (NCBI)CLCN5
DMDM Disease mutations1184
Blocks (Seattle)CLCN5
PDB (SRS)2J9L    2JA3   
PDB (PDBSum)2J9L    2JA3   
PDB (IMB)2J9L    2JA3   
PDB (RSDB)2J9L    2JA3   
Structural Biology KnowledgeBase2J9L    2JA3   
SCOP (Structural Classification of Proteins)2J9L    2JA3   
CATH (Classification of proteins structures)2J9L    2JA3   
SuperfamilyP51795
Human Protein Atlas [tissue]ENSG00000171365-CLCN5 [tissue]
Peptide AtlasP51795
HPRD02053
IPIIPI00294056   IPI01010436   IPI00816067   
Protein Interaction databases
DIP (DOE-UCLA)P51795
IntAct (EBI)P51795
FunCoupENSG00000171365
BioGRIDCLCN5
STRING (EMBL)CLCN5
ZODIACCLCN5
Ontologies - Pathways
QuickGOP51795
Ontology : AmiGOGolgi membrane  voltage-gated chloride channel activity  chloride channel activity  ATP binding  lysosomal membrane  endosome  Golgi apparatus  cytosol  plasma membrane  integral component of plasma membrane  transport  excretion  endosome membrane  antiporter activity  membrane  ion transmembrane transport  apical part of cell  chloride transmembrane transport  regulation of anion transmembrane transport  
Ontology : EGO-EBIGolgi membrane  voltage-gated chloride channel activity  chloride channel activity  ATP binding  lysosomal membrane  endosome  Golgi apparatus  cytosol  plasma membrane  integral component of plasma membrane  transport  excretion  endosome membrane  antiporter activity  membrane  ion transmembrane transport  apical part of cell  chloride transmembrane transport  regulation of anion transmembrane transport  
NDEx NetworkCLCN5
Atlas of Cancer Signalling NetworkCLCN5
Wikipedia pathwaysCLCN5
Orthology - Evolution
OrthoDB1184
GeneTree (enSembl)ENSG00000171365
Phylogenetic Trees/Animal Genes : TreeFamCLCN5
HOVERGENP51795
HOGENOMP51795
Homologs : HomoloGeneCLCN5
Homology/Alignments : Family Browser (UCSC)CLCN5
Gene fusions - Rearrangements
Tumor Fusion PortalCLCN5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCLCN5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CLCN5
dbVarCLCN5
ClinVarCLCN5
1000_GenomesCLCN5 
Exome Variant ServerCLCN5
ExAC (Exome Aggregation Consortium)ENSG00000171365
GNOMAD BrowserENSG00000171365
Genetic variants : HAPMAP1184
Genomic Variants (DGV)CLCN5 [DGVbeta]
DECIPHERCLCN5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCLCN5 
Mutations
ICGC Data PortalCLCN5 
TCGA Data PortalCLCN5 
Broad Tumor PortalCLCN5
OASIS PortalCLCN5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCLCN5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCLCN5
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 CLCN5
DgiDB (Drug Gene Interaction Database)CLCN5
DoCM (Curated mutations)CLCN5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CLCN5 (select a term)
intoGenCLCN5
Cancer3DCLCN5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300008    300009    300554    308990    310468   
Orphanet12453   
DisGeNETCLCN5
MedgenCLCN5
Genetic Testing Registry CLCN5
NextProtP51795 [Medical]
TSGene1184
GENETestsCLCN5
Target ValidationCLCN5
Huge Navigator CLCN5 [HugePedia]
snp3D : Map Gene to Disease1184
BioCentury BCIQCLCN5
ClinGenCLCN5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1184
Chemical/Pharm GKB GenePA26550
Clinical trialCLCN5
Miscellaneous
canSAR (ICR)CLCN5 (select the gene name)
Probes
Litterature
PubMed86 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCLCN5
EVEXCLCN5
GoPubMedCLCN5
iHOPCLCN5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 13:59:19 CET 2017

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