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CLCNKB Gene

protein-coding   GIFtS: 60
GCID: GC01P016370

Chloride Channel, Voltage-Sensitive Kb

(Previous name: chloride channel Kb)
  See CLCNKB-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)
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Aliases
Chloride Channel, Voltage-Sensitive Kb1 2     ClC-Kb2
Chloride Channel Kb1 3     Chloride Channel Protein ClC-Kb2
ClC-K22 3     Chloride Channel, Kidney, B2
CLCKB2     

External Ids:    HGNC: 20271   Entrez Gene: 11882   Ensembl: ENSG000001849087   OMIM: 6020235   UniProtKB: P518013   

Export aliases for CLCNKB gene to outside databases

Previous GC identifers: GC01U990023 GC01P9E0058 GC01P015733 GC01P016115 GC01P016242 GC01P014888


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CLCNKB Gene:
The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels
have several functions, including the regulation of cell volume, membrane potential stabilization, signal
transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be
important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter
syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for
this gene. (provided by RefSeq, Sep 2009)

GeneCards Summary for CLCNKB Gene:
CLCNKB (chloride channel, voltage-sensitive Kb) is a protein-coding gene. Diseases associated with CLCNKB include bartter syndrome, type 4b, digenic, and bartter syndrome type 4b. GO annotations related to this gene include adenyl nucleotide binding and voltage-gated chloride channel activity. An important paralog of this gene is CLCN4.

UniProtKB/Swiss-Prot: CLCKB_HUMAN, P51801
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 CLCNKB 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CLCNKB gene promoter:
         USF1   Elk-1   Pax-5   E47   AREB6   HEN1   USF-1   SEF-1 (1)   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCLCNKB promoter sequence
   Search Chromatin IP Primers for CLCNKB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CLCNKB


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

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P016370:  view genomic region     (about GC identifiers)

Start:
16,370,247 bp from pter      End:
16,383,803 bp from pter
Size:
13,557 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CLCKB_HUMAN, P51801 (See protein sequence)
Recommended Name: Chloride channel protein ClC-Kb  
Size: 687 amino acids; 75446 Da
Subunit: Interacts with BSND. Forms heteromers with BSND in the thick ascending limb of Henle and more distal
segments (By similarity)
Miscellaneous: Compared with CLCNKA/BSND, CLCNKB/BSND is more sensitive to pH and less responsive to Ca(2+)
Secondary accessions: B3KUY3 Q5T5Q7 Q5T5Q8
Alternative splicing: 2 isoforms:  P51801-1   P51801-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CLCNKB: NX_P51801

Explore proteomics data for CLCNKB at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn679

  • See CLCNKB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000076.2  NP_001159417.2  

    ENSEMBL proteins: 
     ENSP00000364831   ENSP00000364819   ENSP00000389344  
    Reactome Protein details: P51801

    CLCNKB Human Recombinant Protein Products:

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

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

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

    Graphical View of Domain Structure for InterPro Entry P51801

    ProtoNet protein and cluster: P51801

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


    UniProtKB/Swiss-Prot: CLCKB_HUMAN, P51801
    Similarity: Belongs to the chloride channel (TC 2.A.49) family. CLCNKB subfamily
    Similarity: Contains 2 CBS domains


    Find genes that share domains with CLCNKB           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLCKB_HUMAN, P51801
    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 CLCNKB:
    chloride voltage-gated channel B,kidney specific,expressed in the basolateral membrane of the thick ascending limb
    of Henle loop in kidney,reclaiming most of the chloride that is left in the urine;tightly linked to CLCNKA (11kb
    apart)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005247voltage-gated chloride channel activity IEA--
    GO:0030554adenyl nucleotide binding IEA--
         
    Find genes that share ontologies with CLCNKB           About GenesLikeMe


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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CLCKB_HUMAN, P51801: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    Find genes that share ontologies with CLCNKB           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CLCNKB About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.58
    Stimuli-sensing channels0.58
    2Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    3Insulin receptor recycling
    Collecting duct acid secretion0.66
    4Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    5Hepatic ABC Transporters
    Hepatic ABC Transporters0.41


    Find genes that share SuperPaths with CLCNKB           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    1 Reactome Pathway for CLCNKB
        Stimuli-sensing channels

    1 PharmGKB Pathway for CLCNKB
        Diuretics Pathway, Pharmacodynamics

    1 Kegg Pathway  (Kegg details for CLCNKB):
        Collecting duct acid secretion

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CLCNKB
    Interactions:

        GeneGlobe Interaction Network for CLCNKB

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for CLCNKB (P518012 ENSP000003648314) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ASNA1ENSP000003498874STRING: ENSP00000349887
    --P310162MINT-8105489
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8041726
    GO:0006821chloride transport ----
    GO:0007588excretion TAS9326936
    GO:0034220ion transmembrane transport TAS--
    GO:0044070regulation of anion transport TAS8041726

    Find genes that share ontologies with CLCNKB           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Tocris compounds for CLCNKB (CLCKB)

    2 HMDB Compounds for CLCNKB    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    MagnesiumMagnesium (see all 2)7439-95-4--

    3 IUPHAR Ligands for CLCNKB (ClC-Kb)    About this table
    LigandTypeActionAffinityPubmed IDs
    niflumic acid
    ActivatorNone3 - 5--
    DIDS
    Channel blockerNone3 - 5--
    3-phenyl-CPP
    Channel blockerNone3 - 5--

    6 Novoseek inferred chemical compound relationships for CLCNKB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chloride 84.9 57 18094726 (2), 8904221 (2), 9326936 (2), 16391491 (2) (see all 42)
    nacl 63.5 4 17954364 (1), 15687331 (1), 17510212 (1), 17670895 (1)
    potassium 57.3 8 16713495 (1), 17872384 (1), 10561751 (1), 19096086 (1) (see all 6)
    sodium 45.4 7 16713495 (1), 9519207 (1), 16785747 (1), 19096086 (1) (see all 5)
    magnesium 42.4 5 16713495 (1), 9326936 (1), 16093448 (1)
    calcium 31.7 6 16713495 (1), 15531551 (1), 16093448 (1), 18446382 (1)



    Find genes that share compounds with CLCNKB           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CLCNKB gene (2 alternative transcripts): 
    NM_000085.4  NM_001165945.2  

    Unigene Cluster for CLCNKB:

    Chloride channel, voltage-sensitive Kb
    Hs.352243  [show with all ESTs]
    Unigene Representative Sequence: NM_000085
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375679(uc001axx.4) ENST00000375667(uc021ogl.1 uc021ogm.1 uc001axy.4)
    ENST00000431772
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    Additional mRNA sequence: 

    AK098217.1 AK292335.1 BC020873.1 BC033806.1 BC109243.1 S80315.1 Z30644.1 

    9 DOTS entries:

    DT.75142865  DT.100018253  DT.121415168  DT.320480  DT.97799662  DT.100672690  DT.87046280  DT.95250811 
    DT.99999942 

    17 AceView cDNA sequences:

    S80315 BV198968 Z30644 NM_000085 BV198964 AK098217 AL035969 BC033806 
    BM083519 CD607359 BQ440452 CD607361 CD607357 CD607363 BF819725 BQ346960 
    BI094360 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CLCNKB (see all 9)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^
    SP1:                                                                                                        -                                                   
    SP2:                                -           -                                                                                                               
    SP3:                                            -     -                                                                                                         
    SP4:                                -           -                                                                                                               
    SP5:                                                                                                        -                                                   

    ExUns: 17
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for CLCNKB

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CLCNKB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CLCNKB Expression
    About this image


    CLCNKB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Loop of Henle Cells Loop of Henle
     
     Epithelial Cells
             Loop of Henle Cells Loop of Henle
    CLCNKB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CLCNKB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.352243

    UniProtKB/Swiss-Prot: CLCKB_HUMAN, P51801
    Tissue specificity: Expressed predominantly in the kidney

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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for CLCNKB gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Clcnkb5
    Clcnka1
    chloride channel Kb5
    chloride channel Ka1
    82.44(n)1
    81.37(a)1
      4 (74.02 cM)5
    127331  NM_001146307.11  NP_001139779.11 
     1414043535 
    chicken
    (Gallus gallus)
    Aves CLCNKB1 chloride channel, voltage-sensitive Kb 66.21(n)
    62.78(a)
      428190  XM_004947472.1  XP_004947529.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    62(a)
    1 → many
    GL343609.1(355909-382911)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc641412 hypothetical protein MGC64141 72.19(n)   393353  BC053277.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ClC-a6
    Chloride channel-a
    23(a)
    1 → many
    3R(7622966-7638929)
    worm
    (Caenorhabditis elegans)
    Secernentea clh-26
    clh-36
    (see all 4)
    Protein CLH-3, isoform b
    (see all 4)
    26(a)
    25(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    II(11358447-11370312) WBGene00000529
    II(7217955-7225648) WBGene00000530


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CLCNKB gene
    CLCN42  CLCN62  CLCN52  CLCN12  CLCN72  CLCN32  CLCNKA2  CLCN22  
    3 SIMAP similar genes for CLCNKB using alignment to 3 protein entries:     CLCKB_HUMAN (see all proteins):
    CLCNKA    CLCN2    CLCN1

    Find genes that share paralogs with CLCNKB           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CLCNKB (see all 86)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0016284
    Bartter syndrome 3 (BS3)4--see VAR_0016282 R C mis40--------
    VAR_0016264
    Bartter syndrome 3 (BS3)4--see VAR_0016262 A D mis40--------
    VAR_0016254
    Bartter syndrome 3 (BS3)4--see VAR_0016252 A T mis40--------
    VAR_0016274
    Bartter syndrome 3 (BS3)4--see VAR_0016272 Y H mis40--------
    VAR_0016244
    Bartter syndrome 3 (BS3)4--see VAR_0016242 P L mis40--------
    rs66984271,2
    C--14901881(+) CCAGCC/TCCAAA 2 A syn1 ese30--------
    rs351278841,2
    C--16368481(+) ATCCCCT/-GTCCT 1 -- us2k12Minor allele frequency- -:0.25NA CSA 4
    rs30858621,2
    C--16370182(+) TGCTC-/TGCTC 
            
    CGGCC
    1 -- us2k10--------
    rs759093771,2
    C,F--16370712(+) GCCTGT/CGCCCA 1 -- int16Minor allele frequency- C:0.16NA WA CSA 247
    rs741991211,2
    C--16370734(+) GACAC-/AGGGGGA 1 -- int10--------

    HapMap Linkage Disequilibrium report for CLCNKB (16370247 - 16383803 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CLCNKB (see all 37):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672024CNV Deletion23128226
    esv2744364CNV Deletion23290073
    dgv19e201CNV Deletion23290073
    esv2674711CNV Deletion23128226
    esv2434454CNV Deletion19546169
    dgv20e199CNV Deletion23128226
    esv995840CNV Deletion20482838
    nsv436443CNV Deletion17901297
    esv2744386CNV Deletion23290073
    esv1006289CNV Insertion20482838

    Human Gene Mutation Database (HGMD): CLCNKB
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CLCNKB
    DNA2.0 Custom Variant and Variant Library Synthesis for CLCNKB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602023   
    OMIM disorders: 607364  613090  
    UniProtKB/Swiss-Prot: CLCKB_HUMAN, P51801
  • Bartter syndrome 3 (BS3) [MIM:607364]: An autosomal 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. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • 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)

  • 11 diseases for CLCNKB:    
    About MalaCards
    bartter syndrome, type 4b, digenic    bartter syndrome type 4b    bartter syndrome type 3    polyhydramnios
    hypokalemia    bartter syndrome type 4a    gitelman syndrome    dent's disease
    bartter disease    nephrocalcinosis    nephrolithiasis

    8 diseases from the University of Copenhagen DISEASES database for CLCNKB:
    Bartter disease     Gitelman syndrome     Hypokalemia     Polyhydramnios
    Nephrocalcinosis     Hyperaldosteronism     Nephrolithiasis     Sensorineural hearing loss

    Find genes that share disorders with CLCNKB           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CLCNKB gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bartter syndrome, classic 97.4 13 19807735 (4), 16306206 (2), 19050915 (2), 16902263 (2) (see all 7)
    bartters syndrome 96 26 15875219 (3), 18094726 (2), 17622951 (1), 9519207 (1) (see all 20)
    gitelman syndrome 95.2 2 15687331 (1), 12911530 (1)
    metabolic alkalosis 89.3 3 18667063 (1), 16902263 (1), 19807735 (1)
    nephrocalcinosis 84 4 19096086 (2), 10906158 (1), 9519207 (1)
    hypomagnesemia 82.9 1 18667063 (1)
    dent disease 82.7 2 11014932 (1), 9690036 (1)
    hypokalemia 78.3 2 18667063 (1), 11445802 (1)
    hypercalciuria 75 2 9519207 (1), 15021200 (1)
    polyhydramnios 68.7 1 19096086 (1)

    Genetic Association Database (GAD): CLCNKB
    Human Genome Epidemiology (HuGE) Navigator: CLCNKB (14 documents)

    Export disorders for CLCNKB 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)
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    PubMed articles for CLCNKB gene, integrated from 10 sources (see all 90):
    (articles sorted by number of sources associating them with CLCNKB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. (PubMed id 9326936)1, 2, 9 Simon D.B....Lifton R.P. (Nat. Genet. 1997)
    2. Cloning, tissue distribution, and intrarenal localization of ClC chloride channels in human kidney. (PubMed id 8544406)1, 2, 9 Takeuchi Y.... Sasaki S. (Kidney Int. 1995)
    3. Association study of variants in two ion-channel genes (TSC and CLCNKB) and hypertension in two ethnic groups in Northwest China. (PubMed id 17997379)1, 4, 9 Wang X.F....Jin L. ( international journal of clinical chemistry 2008)
    4. No association with hypertension of CLCNKB and TNFRSF1B polymorphisms at a hypertension locus on chromosome 1p36. (PubMed id 16003175)1, 4, 9 Speirs H.J....Morris B.J. (J. Hypertens. 2005)
    5. 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. (Hum. Mol. Genet. 2007)
    6. 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. (Hum. Hered. 2008)
    7. 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. (Proc. Natl. Acad. Sci. U.S.A. 1994)
    8. CLCNKB-T481S and essential hypertension in a Ghanaian population. (PubMed id 19226700)1, 4, 9 Sile S....Williams S.M. (J. Hypertens. 2009)
    9. The functional variant of the CLC-Kb channel T481S is not associated with blood pressure or hypertension in Swedes. (PubMed id 17143181)1, 4, 9 Fava C....Melander O. (J. Hypertens. 2007)
    10. Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. (PubMed id 11734858)1, 2, 9 Estevez R.... Jentsch T.J. (Nature 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1188 HGNC: 2027 AceView: CLCNKB Ensembl:ENSG00000184908 euGenes: HUgn1188
    ECgene: CLCNKB Kegg: 1188 H-InvDB: CLCNKB

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CLCNKB Pharmacogenomics, SNPs, Pathways

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

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



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