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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CLCNKB Gene

protein-coding GIFtS: 60
GCID: GC01P016370

chloride channel, voltage-sensitive Kb

(Previous name: chloride channel Kb )

Explore 22 diseases affiliated with
CLCNKB via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Chloride Channel, Voltage-Sensitive Kb¹ ²		CLCKB²
Chloride Channel Kb¹ ³		ClC-Kb²
ClC-K2² ³		Chloride Channel Protein ClC-Kb²
HClC-Kb¹		Chloride Channel, Kidney, B²

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
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, Sep 2009)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004610.19

Regulatory elements:

SABiosciences 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 plasmid: CLCNKB promoter sequence

Search SABiosciences Chromatin IP Primers for CLCNKB

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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: 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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P51801

CLCNKB Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000076.2 NP_001159417.2

ENSEMBL proteins:

ENSP00000364831 ENSP00000364819 ENSP00000389344

Reactome Protein details: P51801
Human Recombinant Protein Products:

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	Uscn Proteins for CLCNKB

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005887	integral to plasma membrane	TAS	8041726
GO:0016021	integral to membrane	--	--
GO:0034707	chloride channel complex	IEA	--

CLCNKB for ontologies About GeneDecksing

CLCNKB Antibody Products:

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	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 ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

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)

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		1 QIAGEN miScript miRNA Assays for microRNA that regulate CLCNKB:
		hsa-miR-3652
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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CLCNKB (see all 7) OriGene shRNA RFP: CLCNKB OriGene siRNA: CLCNKB
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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLCNKB

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005247	voltage-gated chloride channel activity	IEA	--

CLCNKB for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Ion channel transport

Ion channel transport

1.00

Stimuli-sensing channels

0.49

Diuretics Pathway, Pharmacodynamics

Diuretics Pathway, Pharmacodynamics

1.00

Hepatic ABC Transporters

Hepatic ABC Transporters

1.00

Activation of cAMP-Dependent PKA

Activation of cAMP-Dependent PKA

1.00

Insulin receptor recycling

Collecting duct acid secretion

0.68

Pathway sources
See GeneCards unified pathways
Show all pathways

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CLCNKB

	Hepatic ABC Transporters
	Activation of cAMP-Dependent PKA

3 Reactome Pathways for CLCNKB

	Transmembrane transport of small molecules
	Stimuli-sensing channels
	Ion channel transport

1 PharmGKB Pathway for CLCNKB

Diuretics Pathway, Pharmacodynamics

1 Kegg Pathway (Kegg details for CLCNKB):

Collecting duct acid secretion

CLCNKB for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CLCNKB

1 Interacting protein for CLCNKB (P51801²) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
--	P31016²	MINT-8105489

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	TAS	8041726
GO:0007588	excretion	TAS	9326936

CLCNKB for ontologies About GeneDecksing

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

CLCNKB for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CLCNKB

2 HMDB Compounds for CLCNKB About this table

Compound	Synonyms	CAS #	PubMed Ids
Chlorine	Cl2 (see all 13)	16887-00-6	--
Magnesium	Magnesium (see all 2)	7439-95-4	--

6 Novoseek 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)

Search CenterWatch for drugs/clinical trials and news about CLCNKB / CLCKB

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
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, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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

miRNA Products:		OriGene 3'-UTR Clone (see all 2): CLCNKB Browse OriGene MicroRNA Expression Plasmids
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		hsa-miR-3652
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CLCNKB

Additional cDNA 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:

NM_000085 BV198968 S80315 Z30644 AL035969 BM083519 BV198964 AK098217

BC033806 CD607359 BQ440452 CD607363 CD607361 CD607357 BF819725 BQ346960

BI094360

GeneLoc Exon Structure

5/9 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™, 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

CLCNKB expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

CLCNKB expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Loop of Henle

Loop of Henle Cells

Kidney

Renal Collecting Duct System

Intercalated Cells

Kidney

Yolk Sac

Definitive Yolk Sac

Erythroid Progenitor Cells

Blood

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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

SOURCE GeneReport for Unigene cluster: Hs.352243

UniProtKB/Swiss-Prot: CLCKB_HUMAN, P51801

Tissue specificity: Expressed predominantly in the kidney

SABiosciences Custom PCR Arrays for CLCNKB

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLCNKB

(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 last universal common ancestor (LUCA).

Orthologs for CLCNKB gene from 8/27 species (see all 27) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CLCNKB¹	chloride channel, voltage-sensitive Kb	66.26(n) 62.97(a)		428190 XM_425749.3 XP_425749.3
lizard (Anolis carolinensis)	Reptilia	--	--	62(a)	1 → many	GL343609.1(361714-378624)
zebrafish (Danio rerio)	Actinopterygii	zgc64141²	hypothetical protein MGC64141	72.19(n)		393353 BC053277.1
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)	CLC-type chloride cHannel family member (clh-3) (see all 4)	25(a) 24(a) (see all 4)	many ↔ many many ↔ many (see all 4)	II(11358383-11370248) II(7217914-7225607)
thale cress (Arabidopsis thaliana)	eudicotyledons	CLCE⁶ CLCF⁶	chloride channel protein CLC-f	11(a) 10(a)	possible ortholog possible ortholog	4(16835986-16839375) 1(20787134-20791189)
rice (Oryza sativa)	Liliopsida	-- -- (see all 3)	chloride transporter, chloride channel family, put... chloride transporter, chloride channel family, put... (see all 3)	11(a) 10(a) (see all 3)	possible ortholog possible ortholog (see all 3)	1(29215854-29220762) 8(24636296-24642903)
E. coli (Escherichia coli)	Gamma proteobacteria	clcB⁶ clcA⁶	chloride channel, voltage-gated	15(a) 15(a)	possible ortholog 1 ↔ many	Chromosome(1663339-1664595) Chromosome(175107-176528)

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)
About This Section

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

CLCNKB for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121909136^1,2	C	pathogenic	15848278(+)	`TCCTGG/AGCTCC`	4	/* /W	stg¹ int¹		1		NA	4384
rs13306250^1,2	H	--	14891706(+)	`GGGACA/GCAGCA`	3	--	int¹		4		NS EA	420
rs2095541^1,2	C,F,A,H,	--	14891925(+)	`GCTCAC/TTNNNN`	3	--	int¹		9		NA WA EA	478
rs945400^1,2	C,F,A,	--	14891933(+)	`AGTGGT/GGGCCT`	3	--	int¹		2		MN WA	302
rs74403616^1,2	C,	--	14892000(+)	`AGGAAC/TGTGAA`	3	--	int¹		2		NA	122
rs111496009^1,2	C,	--	14892032(+)	`NNNNCA/G/TGTGTC`	3	--	int¹		3		NA WA	240
rs11587376^1,2	H	--	14892114(+)	`ctttaG/Tgaggc`	3	--	int¹		0	--	--	--	--
rs113187681^1,2		--	14892135(+)	`GGATCA/CCTTGT`	3	--	int¹		2		CSA WA	119
rs78040646^1,2		--	14892576(+)	`CTGACG/ACAGGA`	3	--	int¹		2		CSA WA	119
rs5258^1,2	C,F,	--	14892825(+)	`CGGAGG/CTGAAG`	4	/L /V	mis¹ int¹		1		MN	80

HapMap Linkage Disequilibrium report for CLCNKB (16370247 - 16383803 bp)
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
Human Gene Mutation Database (HGMD): CLCNKB

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(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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CLCNKB for disorders           About GeneDecksing

OMIM gene information: 602023
OMIM 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

20/22 diseases for CLCNKB (see all 22): About MalaCards

bartter syndrome type 3 bartter syndrome, type 4, digenic bartter syndrome type 4 bartter syndrome type 4b

dent disease gitelman syndrome hypomagnesemia polyhydramnios

hyperaldosteronism nephrocalcinosis hypercalciuria nephrolithiasis

diabetes insipidus bartter disease essential hypertension renal cell carcinoma

aldosteronism renal carcinoma hypertension seizures

8 diseases from the University of Copenhagen DISEASES database for CLCNKB:

Bartter disease Gitelman syndrome Hypokalemia Polyhydramnios

Nephrocalcinosis Hyperaldosteronism Nephrolithiasis Sensorineural hearing loss

10/16 Novoseek 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)
About This Section

PubMed articles for CLCNKB gene, integrated from 9 sources (see all 86):
(articles sorted by number of sources associating them with CLCNKB)

Utopia: connect your pdf to the dynamic
world of online information

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. (1997)
Cloning, tissue distribution, and intrarenal localization of ClC chloride channels in human kidney. (PubMed id 8544406)^{1, 2, 9} Takeuchi Y.... Sasaki S. (1995)
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. (2005)
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)
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. (2001)
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)
Salt wasting and deafness resulting from mutations in two chloride channels. (PubMed id 15044642)^{1, 2} Schlingmann K.P.... Waldegger S. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance. (PubMed id 18094726)^{1, 9} Kramer B.K....Waldegger S. (2008)
Identification and functional analysis of novel mutat ions of the CLCNKB gene in Chinese patients with classic Bartter syndrome. (PubMed id 19807735)^{1, 9} Yu Y....Chen N. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CLCNKB	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CLCNKB gene
(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:
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GeneCards and IP:
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chloride channel, voltage-sensitive Kb

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CLCNKB Gene

chloride channel, voltage-sensitive Kb

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