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Aliases for CLCNKB Gene

Aliases for CLCNKB Gene

  • Chloride Channel, Voltage-Sensitive Kb 2 3
  • Chloride Channel Kb 2 4
  • ClC-K2 3 4
  • Chloride Channel, Kidney, B 3
  • ClC-Kb 3
  • CLCKB 3

External Ids for CLCNKB Gene

Previous GeneCards Identifiers for CLCNKB Gene

  • GC01U990023
  • GC01P9E0058
  • GC01P015733
  • GC01P016115
  • GC01P016242
  • GC01P016370
  • GC01P014888

Summaries for CLCNKB Gene

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 3 and bartter syndrome type 4b, clcnka/clcnkb digenic. Among its related pathways are Activation of cAMP-Dependent PKA and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include ion channel activity and voltage-gated chloride channel activity. An important paralog of this gene is CLCN7.

UniProtKB/Swiss-Prot for CLCNKB Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLCNKB Gene

Genomics for CLCNKB Gene

Regulatory Elements for CLCNKB Gene

Genomic Location for CLCNKB Gene

Chromosome:
1
Start:
16,043,736 bp from pter
End:
16,057,326 bp from pter
Size:
13,591 bases
Orientation:
Plus strand

Genomic View for CLCNKB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CLCNKB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLCNKB Gene

Proteins for CLCNKB Gene

  • Protein details for CLCNKB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51801-CLCKB_HUMAN
    Recommended name:
    Chloride channel protein ClC-Kb
    Protein Accession:
    P51801
    Secondary Accessions:
    • B3KUY3
    • Q5T5Q7
    • Q5T5Q8

    Protein attributes for CLCNKB Gene

    Size:
    687 amino acids
    Molecular mass:
    75446 Da
    Quaternary structure:
    • 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+)

    Alternative splice isoforms for CLCNKB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLCNKB Gene

Proteomics data for CLCNKB Gene at MOPED

Post-translational modifications for CLCNKB Gene

  • Glycosylation at Asn 679
  • Modification sites at PhosphoSitePlus

Other Protein References for CLCNKB Gene

No data available for DME Specific Peptides for CLCNKB Gene

Domains & Families for CLCNKB Gene

Gene Families for CLCNKB Gene

Suggested Antigen Peptide Sequences for CLCNKB Gene

Graphical View of Domain Structure for InterPro Entry

P51801

UniProtKB/Swiss-Prot:

CLCKB_HUMAN :
  • Contains 2 CBS domains.
  • Belongs to the chloride channel (TC 2.A.49) family. CLCNKB subfamily.
Domain:
  • Contains 2 CBS domains.
Family:
  • Belongs to the chloride channel (TC 2.A.49) family. CLCNKB subfamily.
genes like me logo Genes that share domains with CLCNKB: view

Function for CLCNKB Gene

Molecular function for CLCNKB Gene

GENATLAS Biochemistry:
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)
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for CLCNKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005247 voltage-gated chloride channel activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CLCNKB: view

Phenotypes for CLCNKB Gene

GenomeRNAi human phenotypes for CLCNKB:
genes like me logo Genes that share phenotypes with CLCNKB: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CLCNKB

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CLCNKB Gene

Localization for CLCNKB Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLCNKB Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CLCNKB Gene COMPARTMENTS Subcellular localization image for CLCNKB gene
Compartment Confidence
plasma membrane 5
extracellular 1

Gene Ontology (GO) - Cellular Components for CLCNKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8041726
GO:0016020 membrane --
GO:0034707 chloride channel complex IEA --
genes like me logo Genes that share ontologies with CLCNKB: view

Pathways & Interactions for CLCNKB Gene

genes like me logo Genes that share pathways with CLCNKB: view

Pathways by source for CLCNKB Gene

1 PharmGKB pathway for CLCNKB Gene
1 KEGG pathway for CLCNKB Gene

Interacting Proteins for CLCNKB Gene

Gene Ontology (GO) - Biological Process for CLCNKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 8041726
GO:0006821 chloride transport --
GO:0007588 excretion TAS 9326936
GO:0034220 ion transmembrane transport TAS --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with CLCNKB: view

No data available for SIGNOR curated interactions for CLCNKB Gene

Drugs & Compounds for CLCNKB Gene

(6) Drugs for CLCNKB Gene - From: IUPHAR, DGIdb, NovoSeek, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Niflumic Acid Approved Pharma Channel blocker, inhibitor Ca2+-activated Cl- channel blocker 0
Potassium Experimental Pharma 0
3-phenyl-CPP Pharma Channel blocker 0
DIDS Pharma Channel blocker 0
Magnesium Nutra 0

(4) Additional Compounds for CLCNKB Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
chloride
NaCl
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with CLCNKB: view

Transcripts for CLCNKB Gene

Unigene Clusters for CLCNKB Gene

Chloride channel, voltage-sensitive Kb:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CLCNKB

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CLCNKB Gene

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: -
SP6:
SP7:
SP8:
SP9: - - - -

ExUns: 17
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for CLCNKB Gene

GeneLoc Exon Structure for
CLCNKB
ECgene alternative splicing isoforms for
CLCNKB

Expression for CLCNKB Gene

mRNA expression in normal human tissues for CLCNKB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CLCNKB Gene

This gene is overexpressed in Kidney - Cortex (x38.1).

Protein differential expression in normal tissues from HIPED for CLCNKB Gene

This gene is overexpressed in Islet of Langerhans (61.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CLCNKB Gene



SOURCE GeneReport for Unigene cluster for CLCNKB Gene Hs.352243

mRNA Expression by UniProt/SwissProt for CLCNKB Gene

P51801-CLCKB_HUMAN
Tissue specificity: Expressed predominantly in the kidney.
genes like me logo Genes that share expression patterns with CLCNKB: view

Protein tissue co-expression partners for CLCNKB Gene

Primer Products

In Situ Assay Products

Orthologs for CLCNKB Gene

This gene was present in the common ancestor of animals.

Orthologs for CLCNKB Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CLCNKA 35
  • 86.22 (n)
  • 84.28 (a)
-- 36
  • 84 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CLCNKA 35
  • 87.43 (n)
  • 86.17 (a)
-- 36
  • 86 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Clcnka 35
  • 82.44 (n)
  • 81.37 (a)
Clcnkb 16
Clcnka 36
  • 81 (a)
ManyToMany
Clcnkb 36
  • 80 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia CLCNKB 35
  • 98.06 (n)
  • 97.38 (a)
CLCNKB 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Clcnka 35
  • 82.39 (n)
  • 81.37 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 37 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves CLCNKB 35
  • 66.21 (n)
  • 62.78 (a)
-- 36
  • 61 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 62 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii clcnk 35
  • 54.15 (n)
  • 45.75 (a)
zgc64141 35
clcnk 36
  • 42 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta ClC-a 36
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea clh-1 36
  • 24 (a)
ManyToMany
clh-2 36
  • 26 (a)
ManyToMany
clh-3 36
  • 25 (a)
ManyToMany
clh-4 36
  • 22 (a)
ManyToMany
Species with no ortholog for CLCNKB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CLCNKB Gene

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

Paralogs for CLCNKB Gene

Paralogs for CLCNKB Gene

(3) SIMAP similar genes for CLCNKB Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CLCNKB: view

Variants for CLCNKB Gene

Sequence variations from dbSNP and Humsavar for CLCNKB Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs5251 - 16,050,547(+) CCTTG(C/G)TTCTC missense, reference
rs5252 -- 16,051,720(+) GCTAT(C/T)GGGCG reference, synonymous-codon
rs5253 - 16,053,701(+) GGACA(C/T)GCCAC missense, reference
rs5255 - 16,056,471(+) GACGT(C/T)GCGGG reference, missense
rs5256 - 16,046,567(+) GGGAC(A/C)GCCAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CLCNKB Gene

Variant ID Type Subtype PubMed ID
nsv871162 CNV Gain 21882294
nsv508936 CNV Insertion 20534489
dgv174n71 CNV Loss 21882294
nsv833758 CNV Gain+Loss 17160897
nsv871695 CNV Loss 21882294
nsv517651 CNV Gain+Loss 19592680
dgv175n71 CNV Gain 21882294
dgv176n71 CNV Loss 21882294
nsv520148 CNV Loss 19592680
nsv871485 CNV Loss 21882294
nsv524045 CNV Loss 19592680
nsv460629 CNV Gain 19166990
nsv470698 CNV Loss 18288195
dgv13n27 CNV Gain 19166990
nsv870526 CNV Loss 21882294
esv25815 CNV Gain 19812545
esv2744364 CNV Deletion 23290073
esv8597 CNV Loss 19470904
esv2674711 CNV Deletion 23128226
dgv177n71 CNV Loss 21882294
nsv829570 CNV Gain 20364138
esv2434454 CNV Deletion 19546169
nsv511678 CNV Loss 21212237
esv995840 CNV Deletion 20482838
dgv19e201 CNV Deletion 23290073
nsv436443 CNV Deletion 17901297
dgv20e199 CNV Deletion 23128226
dgv1e19 CNV Loss 19470904
nsv871112 CNV Gain 21882294
esv32650 CNV Gain 17666407
nsv441684 CNV CNV 18776908
esv6377 CNV Loss 19470904
esv2672024 CNV Deletion 23128226
esv1006289 CNV Insertion 20482838
esv1779187 CNV Insertion 17803354
esv2744386 CNV Deletion 23290073
nsv870466 CNV Loss 21882294

Variation tolerance for CLCNKB Gene

Residual Variation Intolerance Score: 92.83% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.23; 76.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CLCNKB Gene

HapMap Linkage Disequilibrium report
CLCNKB
Human Gene Mutation Database (HGMD)
CLCNKB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLCNKB Gene

Disorders for CLCNKB Gene

MalaCards: The human disease database

(15) MalaCards diseases for CLCNKB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
bartter syndrome, type 3
  • bartter syndrome type 3
bartter syndrome type 4b, clcnka/clcnkb digenic
  • bartter syndrome type 4b
bartter syndrome, type 4b, digenic
  • bsnd
bartter syndrome, type 4a
  • sensorineural deafness with mild renal dysfunction
bartter disease
  • bartter's syndrome
- elite association

UniProtKB/Swiss-Prot

CLCKB_HUMAN
  • 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. {ECO:0000269 PubMed:9326936}. 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. {ECO:0000269 PubMed:15044642, ECO:0000269 PubMed:18310267}. 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). {ECO:0000269 PubMed:18310267}.

Relevant External Links for CLCNKB

Genetic Association Database (GAD)
CLCNKB
Human Genome Epidemiology (HuGE) Navigator
CLCNKB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLCNKB
genes like me logo Genes that share disorders with CLCNKB: view

No data available for Genatlas for CLCNKB Gene

Publications for CLCNKB Gene

  1. Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome. (PMID: 19807735) Yu Y. … Chen N. (Clin. Genet. 2010) 23 67
  2. Coexistence of normotensive primary aldosteronism in two patients with Gitelman's syndrome and novel thiazide-sensitive Na-Cl cotransporter mutations. (PMID: 19451210) Miao Z. … Shao L. (Eur. J. Endocrinol. 2009) 23 67
  3. Genetic causes of hypercalciuric nephrolithiasis. (PMID: 18446382) Stechman M.J. … Thakker R.V. (Pediatr. Nephrol. 2009) 23 67
  4. Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome. (PMID: 19207868) Qin L. … Chen N. (Nephrology (Carlton) 2009) 23 67
  5. Chronic renal failure in a boy with classic Bartter's syndrome due to a novel mutation in CLCNKB coding for the chloride channel. (PMID: 19050915) Lin C.M. … Lin S.H. (Eur. J. Pediatr. 2009) 23 67

Products for CLCNKB Gene

Sources for CLCNKB Gene

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