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CLCNKB Gene

protein-coding   GIFtS: 56

GC01P014888
chloride channel Kb
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
chloride channel Kb1 2 3     CLCKB2
hClC-Kb1 2     chloride channel protein ClC-Kb2
ClC-K22 3     MGC240872
chloride channel, kidney, B2     ClC-Kb2

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

Export aliases for CLCNKB gene to outside databases

Previous GC identifers: GC01U990023 GC01P9E0058 GC01P015733 GC01P016115 GC01P016242 GC01P016370


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

Entrez Gene summary for CLCNKB:
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)

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

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CLCNKB gene promoter:
         GCNF-1   GCNF-2   CREB   deltaCREB   RORalpha1   GATA-1   ATF-2   PPAR-gamma2   PPAR-gamma1   Pbx1a   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for CLCNKB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


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 gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P014888:  view genomic region     (about GC identifiers)

Start:
14,888,657 bp from pter
End:
14,902,282 bp from pter
Size:
13,626 bases
Orientation:
plus strand

1 alternative location:
Chr1+ 16,370,247-16,383,803     
RefSeq DNA sequence:
NC_000001.10  NT_004610.19  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

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)
Subcellular location: Cell membrane; Multi-pass membrane protein
Miscellaneous: Compared with CLCNKA/BSND, CLCNKB/BSND is more sensitive to pH and less responsive to Ca(2+)
Secondary accessions: Q5T5Q8

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

REFSEQ proteins (2 alternative transcripts): 
NP_000076.2  NP_001159417.1  


ENSEMBL proteins: 
ENSP00000364819 ENSP00000364831 ENSP00000389344 ENSP00000332055 ENSP00000364820 


Human Recombinant Proteins 
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
Browse OriGene Protein Over-expression Lysates
GenScript Custom Purified and Recombinant Proteins Services for CLCNKB 
Novus Biologicals Proteins for CLCNKB
Browse Sino Biological Recombinant Proteins
Browse ProSpec Recombinant Proteins

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

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

CLCNKB for ontologies           About GeneDecksing



Antibodies for CLCNKB: 
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for CLCNKB
Browse R&D Systems for Antibodies
Browse OriGene Antibodies
GenScript Custom Superior Antibodies Services for CLCNKB 
Novus Biologicals Antibody for CLCNKB
Browse antibodies at Epitomics

Assays for CLCNKB: 
Browse Kits and Assays available from Millipore
Browse ELISAs at Sigma-Aldrich
OriGene Custom Immunoassay Development 
Browse OriGene Fluorogenic Cell Assay Kits 
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for CLCNKB 
Browse Enzo Life Sciences for kits & assays
Uscn ELISAs and CLIAs for CLCNKB 


(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CLCNKB for domains           About GeneDecksing

4 InterPro domains/families:
 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 P51801

ProtoNet protein and cluster: P51801

3 Blocks protein families:
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


(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

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

Inhib.
RNA:
    
Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich siRNA Panels and siRNA for CLCNKB
Sigma-Aldrich shRNA Panels and shRNA for CLCNKB
OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): CLCNKB
OriGene shRNA RFP (see all 3): CLCNKB
OriGene basic RS shRNA (see all 3): CLCNKB
OriGene siRNA (see all 3): CLCNKB
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CLCNKB 
miRNA:Browse microRNA Mimics at Sigma-Aldrich
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CLCNKB 
Search SABiosciences for Assays for microRNAs that regulate CLCNKB

Gene
Editing:
Browse CompoZr Knockout ZFN at Sigma-Aldrich 

Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
Browse iPSC Reprogramming Factors at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): CLCNKB
OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): CLCNKB
OriGene untagged cDNA clones in CMV expression vector: CLCNKB
OriGene 3'-UTR clone (see all 2): CLCNKB 
Browse MicroRNA Expression Plasmids 
GenScript Custom cDNA clone Services for CLCNKB 
Browse Sino Biological Human cDNA Clones

Cell
Lines:
  
GenScript Custom overexpressing Cell Line Services for CLCNKB 

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)

4 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005216 ion channel activity ----
GO:0005244 voltage-gated ion channel activity IEA--
GO:0005247 voltage-gated chloride channel activity IEA--
GO:0005515 protein binding IEA--
About this table

CLCNKB for ontologies           About GeneDecksing


(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section


CLCNKB for pathways           About GeneDecksing

1 Kegg Pathway  (Kegg details for CLCNKB):
    hsa04966 Collecting duct acid secretion

    SABiosciences Custom Pathway-Focused PCR Arrays for CLCNKB 

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CLCNKB

1 Interacting protein for CLCNKB (P518012) via UniProtKB, MINT, and/or STRING
InteractantInteraction Details
GeneCardExternal ID(s)
--P310162MINT-7971450
About this table

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

GO IDQualified GO termEvidencePubMed IDs
GO:0006810 transport TAS8041726
GO:0006811 ion transport IEA--
GO:0006821 chloride transport ----
GO:0007588 excretion TAS9326936
GO:0055085 transmembrane transport IEA--
About this table

CLCNKB for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

CLCNKB for compounds           About GeneDecksing

Browse Small Molecules at Sigma-Aldrich
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CLCNKB
6 Novoseek chemical compound relationships for CLCNKB gene
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)
About this table



(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib.
RNA:
     
Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich siRNA Panels and siRNA for CLCNKB
Sigma-Aldrich shRNA Panels and shRNA for CLCNKB
OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): CLCNKB
OriGene shRNA RFP (see all 3): CLCNKB
OriGene basic RS shRNA (see all 3): CLCNKB
OriGene siRNA (see all 3): CLCNKB
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CLCNKB 
miRNA: Browse microRNA Mimics at Sigma-Aldrich
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CLCNKB 
Search SABiosciences for Assays for microRNAs that regulate CLCNKB
Clones: Browse FLAG tag genes at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): CLCNKB
OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): CLCNKB
OriGene untagged cDNA clones in CMV expression vector: CLCNKB
OriGene 3'-UTR Clone (see all 2): CLCNKB 
Browse OriGene MicroRNA Expression Plasmids 
GenScript Custom cDNA clone Services for CLCNKB 
Primers: OriGene genome-wide validated SYBR primer pairs: CLCNKB
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for CLCNKB: PPH17609A

REFSEQ mRNAs for CLCNKB gene (2 alternative transcripts): 

NM_000085.3  NM_001165945.1  

Additional cDNA sequence: 

AK098217.1 AK292335.1 AK293586.1 BC020873.1 BC033806.1 BC109243.1 S80315.1 Z30644.1 

6 DOTS entries:

DT.75142865  DT.100018253  DT.121415168  DT.87046280  DT.95250811  DT.99999942 

17 AceView cDNA sequences:

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

highest scoring ESTs for CLCNKB:

Z30644 AK098217 BC033806 BI771730 BC020873 S80315 AI631912 BF510399 BG428823 BI765914 

Unigene Cluster for CLCNKB:

Chloride channel Kb
Hs.352243  [show with all ESTs]
Unigene Representative Sequence: NM_000085


GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for CLCNKB (see all 9)

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:      

About this scheme

ECgene alternative splicing isoforms for CLCNKB
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000375667(uc001axy.3) ENST00000375679(uc001axw.3 uc001axx.3)
ENST00000431772 ENST00000331579 ENST00000375668

(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

CLCNKB expression in normal and diseased human tissues

1  / 2  / 3

7 probe-sets matching CLCNKB gene

Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
32984_s_at2, 3 U95-A 2 0.94 0.47 1.00 1.00 Z30644 1.00 0.80 0.91 1
205985_x_at2, 3 U133-A 2 0.91 0.95 -- -- NM_000085 0.60 0.83 0.73 1
207047_s_at2, 3 U133-A 2 0.91 0.46 -- -- NM_004070 0.20 0.17 0.18 2
1554749_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
205985_x_at2 U133Plus2 2 0.91 0.95 -- -- -- -- -- -- --
1554748_at2 U133Plus2 2 0.91 0.60 -- -- -- -- -- -- --
207047_s_at2 U133Plus2 2 0.91 0.46 -- -- -- -- -- -- --
About this table

CLCNKB for expression           About GeneDecksing

Data from Genenote  (Publications) and GNF BioGPS
    About these images
CLCNKB gene expression
CLCNKB gene electronic northern expression
CLCNKB gene sage expression
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.352243

Expression variation in blood from EXPOLDB for CLCNKB

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

Primers: OriGene genome-wide validated SYBR primer pairs: CLCNKB
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for CLCNKB: PPH17609A
    SABiosciences Custom PCR Arrays for CLCNKB 


(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for CLCNKB gene from 5/6 species (see all 6)
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
CLCNKB1   -- chloride channel Kb 87.43(n)
86.17(a)
487422  XM_544547.2  XP_544547.2 
cow
(Bos taurus)
LOC5381451   -- similar to chloride channel 86.22(n)
84.28(a)
538145  XM_618340.3  XP_618340.3 
rat
(Rattus norvegicus)
Clcnka1   -- chloride channel Ka 82.39(n)
81.37(a)
79425  NM_053327.1  NP_445779.1 
mouse
(Mus musculus)
Clcnkb5
Clcnka1
4 (74.02 cM)5
chloride channel Kb5
chloride channel Ka1
82.1(n)1
81.37(a)1
127331  NM_024412.21  NP_077723.21 
 AA2406105  AA2859435  (see all 13)
chicken
(Gallus gallus)
CLCNKB1   -- chloride channel Kb 66.41(n)
63.19(a)
428190  XM_425749.2  XP_425749.2 
About this table        Species with no ortholog for CLCNKB

ENSEMBL Gene Tree for CLCNKB (if available)

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
Paralogs for CLCNKB gene
CLCN42  CLCN62  CLCN52  CLCN12  CLCN72  CLCN32  CLCNKA2  CLCN22  

CLCNKB for paralogs           About GeneDecksing



(SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

10/337 NCBI SNPs in CLCNKB are shown (see all 337)
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidChr 1 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
----------
rs52511,2
F16377042(+) CCTTGG/CTTCTC 6 /L /V mis1 ref12Minor allele frequency- C:0.48MN 264
rs52521,2
C,F,16378215(+) GCTATC/TGGGCG 6 I ref1 syn116Minor allele frequency- T:0.11MN NA NS EA WA 1348
rs52531,2
C,F,A,H16380196(+) GGACAC/TGCCAC 6 T M mis1 ref1 ese323Minor allele frequency- T:0.13MN EA NS NA WA 2935
rs52551,2
C,F,16382966(+) GACGTC/TGCGGG 6 S L ref1 mis12Minor allele frequency- T:0.02MN 1164
rs52561,2
C,F16373062(+) GGGACA/CGCCAC 4 S R ref1 mis13Minor allele frequency- C:0.09MN 183
rs52571,2
C,F,A,16373124(+) TCTTCG/AGGCTT 4 /S ref1 syn1 ese316Minor allele frequency- A:0.27MN NS EA NA 919
rs52581,2
C,F16374417(+) CGGAGG/CTGAAG 5 /L /V mis1 ref1 ng511Minor allele frequency- C:0.50MN 80
rs52591,2
C16374468(+) TCAAGA/CACTTT 5 N H ng51 ref1 mis1 ese35Minor allele frequency- C:0.02MN NS EA 490
rs52601,2
C,F16375721(+) CTGGCG/AGTCTT 6 /A syn1 ref11Minor allele frequency- A:0.10MN 80
rs8689501,2
C,F,A,H,16370215(+) TTCTGG/ATCGGT 1 -- ng5113Minor allele frequency- A:0.49NA MN WA 409
About this table

HapMap Linkage Disequilibrium images for CLCNKB (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 11 variations for CLCNKB
     11 CNVs: 48164 6792 97300 60803 63115 37643 74196 48165 22889 53420 48156

QIAGEN SeqTarget long-range PCR primers for resequencing CLCNKB 

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CLCNKB for disorders           About GeneDecksing

OMIM: 602023   disorders: 607364  602522  

UniProtKB/Swiss-Prot: CLCKB_HUMAN, P51801

  • Defects in CLCNKB are the cause of Bartter syndrome type 3 (BS3) [MIM:607364]; also known as classic Bartter
  • syndrome. It is an autosomal recessive form of often severe intravascular volume depletion due to renal salt-wasting
    associated with low blood pressure, hypokalemic alkalosis, hypercalciuria, and normal serum magnesium levels
  • Defects in CLCNKB are a cause of Bartter syndrome type 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

    10/16 Novoseek disease relationships for CLCNKB gene (see all 16)

    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)
    About this table

    Human Gene Mutation Database (HGMD): CLCNKB
    Genetic Association Database (GAD): CLCNKB
    Human Genome Epidemiology (HuGE) Navigator: CLCNKB (12 documents)

    Export disorders and mutations for CLCNKB gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
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    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
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    10/81 PubMed articles for CLCNKB gene, integrated from 7 sources (see all 81):
    (articles sorted by number of sources associating them with CLCNKB)
    1. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. (PubMed id 9326936)1, 2, 7 Simon D.B....Lifton R.P. (1997)
    2. Cloning, tissue distribution, and intrarenal localization of ClC chloride channels in human kidney. (PubMed id 8544406)1, 2, 7 Takeuchi Y.... Sasaki S. (1995)
    3. No association with hypertension of CLCNKB and TNFRSF1B polymorphisms at a hypertension locus on chromosome 1p36. (PubMed id 16003175)1, 4, 7 Speirs H.J....Morris B.J. (2005)
    4. Two highly homologous members of the ClC chloride channel family in both rat and human kidney. (PubMed id 8041726)1, 2, 7 Kieferle S.... Jentsch T. (1994)
    5. Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. (PubMed id 11734858)1, 2, 7 Estevez R.... Jentsch T.J. (2001)
    6. Association analysis between hypertension and CYBA, CLCNKB, and KCNMB1 functional polymorphisms in the Japanese population--the Suita Study. (PubMed id 15671602)1, 4 Kokubo Y....Tomoike H. (2005)
    7. Salt wasting and deafness resulting from mutations in two chloride channels. (PubMed id 15044642)1, 2 Schlingmann K.P.... Waldegger S. (2004)
    8. Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance. (PubMed id 18094726)1, 7 Kramer B.K....Waldegger S. (2008)
    9. Identification and functional analysis of novel mutat ions of the CLCNKB gene in Chinese patients with classic Bartter syndrome. (PubMed id 19807735)1, 7 Yu Y....Chen N. (2010)
    10. Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. (PubMed id 19096086)1, 7 Brochard K....Vargas-Poussou R. (2009)

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    (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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
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    Patent Information for CLCNKB gene:
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