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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CLCNKA Gene

protein-coding   GIFtS: 62
GCID: GC01P016345

Chloride Channel, Voltage-Sensitive Ka

(Previous name: chloride channel Ka)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Chloride Channel, Voltage-Sensitive Ka1 2     Chloride Channel Protein ClC-Ka2
Chloride Channel Ka1 2 3     Chloride Channel, Kidney, A2
ClC-K12 3     hClC-Ka2
CLCK12     

External Ids:    HGNC: 20261   Entrez Gene: 11872   Ensembl: ENSG000001865107   OMIM: 6020245   UniProtKB: P518003   

Export aliases for CLCNKA gene to outside databases

Previous GC identifers: GC01U990022 GC01P9E0033 GC01P015711 GC01P016094 GC01P016220 GC01P014867


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CLCNKA Gene:
This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to
have 12 transmembrane domains, and requires a beta subunit called barttin to form a functional channel. It is
thought to function in salt reabsorption in the kidney and potassium recycling in the inner ear. The gene is
highly similar to CLCNKB, which is located 10 kb downstream from this gene. Multiple transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for CLCNKA Gene: 
CLCNKA (chloride channel, voltage-sensitive Ka) is a protein-coding gene. Diseases associated with CLCNKA include bartter syndrome, type 4b, digenic, and bartter syndrome type 4b, and among its related super-pathways are Stimuli-sensing channels and cAMP Pathway. GO annotations related to this gene include voltage-gated chloride channel activity. An important paralog of this gene is CLCN4.

UniProtKB/Swiss-Prot: CLCKA_HUMAN, P51800
Function: Voltage-gated chloride channel. Chloride channels have several functions including the regulation of
cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be
important in urinary concentrating mechanisms

Gene Wiki entry for CLCNKA Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004610.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CLCNKA gene promoter:
         SRF   USF1   AML1a   SRF (504 AA)   Nkx2-5   E47   PPAR-gamma1   USF-1   PPAR-gamma2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCLCNKA promoter sequence
   Search SABiosciences Chromatin IP Primers for CLCNKA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CLCNKA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36   Ensembl cytogenetic band:  1p36.13   HGNC cytogenetic band: 1p36

CLCNKA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLCNKA gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P016345:  view genomic region     (about GC identifiers)

Start:
16,345,370 bp from pter      End:
16,360,545 bp from pter
Size:
15,176 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CLCKA_HUMAN, P51800 (See protein sequence)
Recommended Name: Chloride channel protein ClC-Ka  
Size: 687 amino acids; 75285 Da
Subunit: Homodimer. Interacts with BSND. Forms heteromers with BSND in the thin ascending limb of Henle (By
similarity)
Subcellular location: Membrane; Multi-pass membrane protein
1 PDB 3D structure from and Proteopedia for CLCNKA:
2PFI (3D)    
Secondary accessions: B4DPD3 E7EPH6 Q5T5P8 Q5T5Q4 Q7Z6D1 Q86VT1
Alternative splicing: 3 isoforms:  P51800-1   P51800-2   P51800-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CLCNKA: NX_P51800

Explore proteomics data for CLCNKA at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P51800

  • CLCNKA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CLCNKA Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001036169.1  NP_001244068.1  NP_004061.3  

    ENSEMBL proteins: 
     ENSP00000364844   ENSP00000414445   ENSP00000332771   ENSP00000410353  
    Reactome Protein details: P51800
    Human Recombinant Protein Products for CLCNKA: 
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    Cloud-Clone Corp. Proteins for CLCNKA 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS8041726
    GO:0016020membrane ----
    GO:0034707chloride channel complex IEA--

    CLCNKA for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CLCN: Ion channels / Chloride channels : Voltage-sensitive

    IUPHAR Guide to PHARMACOLOGY protein family classification: ClC-Ka 
    ClC family

    4 InterPro protein domains:
     IPR014743 Cl-channel_core
     IPR000644 Cysta_beta_synth_core
     IPR002250 Cl_channel-K
     IPR001807 Cl-channel_volt-gated

    Graphical View of Domain Structure for InterPro Entry P51800

    ProtoNet protein and cluster: P51800

    3 Blocks protein domains:
    IPB000644 CBS domain
    IPB001807 Chloride channel signature
    IPB002250 CLC-K chloride channel family signature


    UniProtKB/Swiss-Prot: CLCKA_HUMAN, P51800
    Similarity: Belongs to the chloride channel (TC 2.A.49) family. CLCNKA subfamily
    Similarity: Contains 2 CBS domains


    CLCNKA for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLCKA_HUMAN, P51800
    Function: Voltage-gated chloride channel. Chloride channels have several functions including the regulation of
    cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be
    important in urinary concentrating mechanisms

         Genatlas biochemistry entry for CLCNKA:
    chloride voltage-gated channel A,kidney specific,highly expressed in the thin ascending limb of Henle
    loop,involved in the concentration function,putative candidate gene for nephrogenic diabetes insipidus,as in
    mice;tightly linked to CLCNKB (11kb apart)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005247voltage-gated chloride channel activity IEA--
    GO:0030554adenyl nucleotide binding IEA--
         
    CLCNKA for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CLCNKA:
     Upregulation of Wnt/beta-caten  Wnt reporter upregulated 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Clcnka):
     homeostasis/metabolism  renal/urinary system 

    CLCNKA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Clcnkatm1Suc for CLCNKA

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CLCNKA 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CLCNKA 
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    SwitchGear 3'UTR luciferase reporter plasmidCLCNKA 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CLCNKA About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.49
    Stimuli-sensing channels0.49
    2Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    3SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50
    4Hepatic ABC Transporters
    Hepatic ABC Transporters0.41
    5Diuretics Pathway, Pharmacodynamics
    Diuretics Pathway, Pharmacodynamics

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CLCNKA
        Hepatic ABC Transporters
    Activation of cAMP-Dependent PKA

    3        Reactome Pathways for CLCNKA
        Transmembrane transport of small molecules
    Stimuli-sensing channels
    Ion channel transport

    1 PharmGKB Pathway for CLCNKA
        Diuretics Pathway, Pharmacodynamics


    CLCNKA for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CLCNKA

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8041726
    GO:0006821chloride transport ----
    GO:0007588excretion TAS8041726
    GO:0034220ion transmembrane transport TAS--
    GO:0055085transmembrane transport TAS--

    CLCNKA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CLCNKA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CLCNKA (CLCKA)

    1 HMDB Compound for CLCNKA    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--

    1 DrugBank Compound for CLCNKA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Niflumic Acid2-(3-(Trifluoromethyl)-phenyl)aminonicotinic acid (see all 13)4394-00-7targetinducer17659402

    3 IUPHAR Ligands for CLCNKA (ClC-Ka)    About this table 
    LigandTypeActionAffinityPubmed IDs
    DIDS
    Channel blockerNone--
    3-phenyl-CPP
    Channel blockerNone--
    niflumic acid
    Channel blockerNone--

    6 Novoseek inferred chemical compound relationships for CLCNKA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chloride 75.7 9 8904221 (2), 16713495 (1), 10982849 (1), 10373326 (1) (see all 8)
    magnesium 34.3 2 16713495 (1), 16093448 (1)
    potassium 25.7 2 16713495 (1), 16093448 (1)
    sodium 23.1 2 16713495 (1), 16093448 (1)
    nacl 18.3 1 17510212 (1)
    calcium 0 2 16713495 (1), 16093448 (1)

    Search CenterWatch for drugs/clinical trials and news about CLCNKA / CLCKA

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CLCNKA gene (3 alternative transcripts): 
    NM_001042704.1  NM_001257139.1  NM_004070.3  

    Unigene Cluster for CLCNKA:

    Chloride channel, voltage-sensitive Ka
    Hs.591533  [show with all ESTs]
    Unigene Representative Sequence: BC053869
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000464764(uc010obx.1 uc010oby.1 uc001axt.3 uc010obw.2)
    ENST00000477360 ENST00000375692(uc001axu.3 uc001axv.3) ENST00000495784
    ENST00000439316 ENST00000331433 ENST00000491433 ENST00000420078
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate CLCNKA:
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK225550.1 AK290814.1 AK293476.1 AK293586.1 AK298285.1 BC048282.1 BC053869.1 Z30643.1 

    8 DOTS entries:

    DT.121415080  DT.87046280  DT.121415074  DT.95250811  DT.40211485  DT.75142865  DT.100018253  DT.445581 

    24/46 AceView cDNA sequences (see all 46):

    NM_004070 AA322786 BC053869 BC048282 BV206476 BF445204 BI761758 BV206475 
    BV206474 BI519982 BI829444 CD513734 BC035373 BM924114 AU141678 AA399181 
    Z30643 AL035950 AA890541 BV206479 AW242998 BV206477 BV206478 BV172508 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CLCNKA expression in normal human tissues (normalized intensities)      CLCNKA embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACCACAGCA
    CLCNKA Expression
    About this image


    CLCNKA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Kidney (Urinary System)
             Loop of Henle Cells Loop of Henle
     
     Mesoderm (Gastrulation Derivatives)
             PureStem Z11, Meso Progenitor

    See CLCNKA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CLCNKA

    SOURCE GeneReport for Unigene cluster: Hs.591533

    UniProtKB/Swiss-Prot: CLCKA_HUMAN, P51800
    Tissue specificity: Expressed predominantly in the kidney. All nephron segments expressing BSND also express CLCNK
    proteins

        SABiosciences Expression via Pathway-Focused PCR Array including CLCNKA: 
              Neurotoxicity in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLCNKA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CLCNKA gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Clcnka5
    Clcnkb1
    chloride channel Ka5
    chloride channel Kb1
    82.12(n)1
    81.2(a)1
      4 (73.94 cM)5
    563651  NM_019701.21  NP_062675.21 
     1413846105 
    chicken
    (Gallus gallus)
    Aves CLCNKB6
    Uncharacterized protein
    60(a)
    1 → many
    21(4312361-4316769)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    61(a)
    1 → many
    GL343609.1(355909-382911)
    African clawed frog
    (Xenopus laevis)
    Amphibia clcnka-A2 chloride channel Ka 75.92(n)    AJ011385.1 
    zebrafish
    (Danio rerio)
    Actinopterygii clcnk6
    chloride channel K
    41(a)
    1 → many
    23(24559404-24578810)
    fruit fly
    (Drosophila melanogaster)
    Insecta ClC-a6
    Chloride channel-a
    22(a)
    1 → many
    3R(7622966-7638929)
    worm
    (Caenorhabditis elegans)
    Secernentea clh-26
    clh-36
    (see all 4)
    Protein CLH-3, isoform a
    (see all 4)
    25(a)
    23(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    II(11358447-11370312)
    II(7217955-7225648)


    ENSEMBL Gene Tree for CLCNKA (if available)
    TreeFam Gene Tree for CLCNKA (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CLCNKA gene
    CLCN42  CLCN62  CLCNKB2  CLCN52  CLCN12  CLCN72  CLCN32  CLCN22  
    3 SIMAP similar genes for CLCNKA using alignment to 1 protein entry:     CLCKA_HUMAN:
    CLCNKB    CLCN2    CLCN1

    CLCNKA for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/931 SNPs in CLCNKA are shown (see all 931)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0630744
    Bartter syndrome 4B (BS4B)4--see VAR_0630742 W C mis40--------
    rs1834192421,2
    --14865453(+) TTACCC/TACCCC 1 -- us2k10--------
    rs1432391371,2
    --14865494(+) CTTCCC/TGAGGC 1 -- us2k10--------
    rs1879569081,2
    --14865508(+) ACCCAA/CACAAA 1 -- us2k10--------
    rs37543231,2
    C,F,H--14865517(-) GATCCA/CGTATT 1 -- us2k116Minor allele frequency- C:0.11NS EA NA 1938
    rs575538481,2
    C--14866652(+) CAGGT-/GCTTGT 1 -- us2k10--------
    rs570012751,2
    C--14866653(+) AGGTGA/CTTGTT 1 -- us2k10--------
    rs1124846471,2
    C,F--14879449(+) CCTCAA/GAGAAA 4 -- int1 ds50011Minor allele frequency- G:0.11NA 120
    rs1123316941,2
    C--14879454(+) AAGAAA/CCTTGA 4 -- int1 ds50010--------
    rs1131526381,2
    C--14879477(+) GGAGCC/TGCAAG 4 -- int1 ds50010--------

    HapMap Linkage Disequilibrium report for CLCNKA (16345370 - 16360545 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/24 variations for CLCNKA (see all 24):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2744364CNV Deletion23290073
    esv2665318CNV Deletion23128226
    esv2674711CNV Deletion23128226
    nsv508936CNV Insertion20534489
    dgv176n71CNV Loss21882294
    nsv870526CNV Loss21882294
    nsv871695CNV Loss21882294
    nsv524045CNV Loss19592680
    dgv174n71CNV Loss21882294
    dgv12n27CNV Loss19166990


    Human Gene Mutation Database (HGMD): CLCNKA
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CLCNKA
    DNA2.0 Custom Variant and Variant Library Synthesis for CLCNKA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602024   
    OMIM disorders: 613090  
    UniProtKB/Swiss-Prot: CLCKA_HUMAN, P51800
  • Bartter syndrome 4B (BS4B) [MIM:613090]: A digenic, recessive disorder characterized by impaired salt
    reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis,
    and varying degrees of hypercalciuria. Bartter syndrome type 4B is associated with sensorineural deafness.
    Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this
    entry. Loss-of-function of both CLCNKA and CLCNKB results in the disease phenotype (PubMed:18310267)

  • 13 diseases for CLCNKA:    About MalaCards
    bartter syndrome, type 4b, digenic    bartter syndrome type 4b    bartter syndrome type 4    neurohypophyseal diabetes insipidus
    bartter disease    renal glycosuria    diabetes insipidus    nephrogenic diabetes insipidus
    dent's disease    nephrolithiasis    hypertension    pneumonia
    hepatitis

    3 diseases from the University of Copenhagen DISEASES database for CLCNKA:
    Bartter disease     Nephrogenic diabetes insipidus     Renal glycosuria

    CLCNKA for disorders           About GeneDecksing

    Genetic Association Database (GAD): CLCNKA
    Human Genome Epidemiology (HuGE) Navigator: CLCNKA (6 documents)

    Export disorders for CLCNKA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CLCNKA gene, integrated from 9 sources (see all 35):
    (articles sorted by number of sources associating them with CLCNKA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension. (PubMed id 17510212)1, 4, 9 Barlassina C....Cusi D. (2007)
    2. Haplotype diversity in four genes (CLCNKA, CLCNKB, BSND, NEDD4L) involved in renal salt reabsorption. (PubMed id 17652939)1, 4, 9 Sile S....Williams S.M. (2008)
    3. Two highly homologous members of the ClC chloride channel family in both rat and human kidney. (PubMed id 8041726)1, 2, 9 Kieferle S.... Jentsch T. (1994)
    4. Cloning, tissue distribution, and intrarenal localization of ClC chloride channels in human kidney. (PubMed id 8544406)1, 3, 9 Takeuchi Y.... Sasaki S. (1995)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. The structure of the cytoplasmic domain of the chloride channel ClC-Ka reveals a conserved interaction interface. (PubMed id 17562318)1, 2 Markovic S. and Dutzler R. (2007)
    7. Salt wasting and deafness resulting from mutations in two chloride channels. (PubMed id 15044642)1, 2 Schlingmann K.P.... Waldegger S. (2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. (PubMed id 11734858)1, 2 Estevez R.... Jentsch T.J. (2001)
    10. Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness. (PubMed id 18310267)2, 9 Nozu K.... Matsuo M. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1187 HGNC: 2026 AceView: CLCNKA Ensembl:ENSG00000186510 euGenes: HUgn1187
    ECgene: CLCNKA H-InvDB: CLCNKA

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CLCNKA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CLCNKA Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CLCNKA gene:
    Search GeneIP for patents involving CLCNKA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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