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CLCNKB (chloride voltage-gated channel Kb)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1188
Gene nameGene Name - the full gene name approved by the HGNC.
Chloride voltage-gated channel Kb
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CLCNKB
SynonymsGene synonyms aliases
CLCKB, ClC-K2, ClC-Kb
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.13
SummarySummary of gene provided in NCBI Entrez 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 tra
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs121909131 C>G,T Pathogenic Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs121909132 G>A Pathogenic Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs121909133 C>A,T Uncertain-significance, pathogenic Missense variant, coding sequence variant
rs121909134 C>A Pathogenic Missense variant, coding sequence variant
rs121909135 T>C Pathogenic Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT894895 hsa-miR-1292 CLIP-seq
MIRT894896 hsa-miR-216a CLIP-seq
MIRT894897 hsa-miR-3145-5p CLIP-seq
MIRT894898 hsa-miR-3192 CLIP-seq
MIRT894899 hsa-miR-4314 CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005247 Function Voltage-gated chloride channel activity IBA 21873635
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane IBA 21873635
GO:0006821 Process Chloride transport IBA 21873635
GO:0007588 Process Excretion TAS 9326936
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P51801
Protein name Chloride channel protein ClC-Kb (Chloride channel Kb) (ClC-K2)
Protein function Anion-selective channel permeable to small monovalent anions with ion selectivity for chloride > bromide > nitrate > iodide (PubMed:11734858, PubMed:12111250). Forms a homodimeric channel where each subunit has its own ion conduction pathway. Ma
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00654 Voltage_CLC
102 → 514
Voltage gated chloride channel
 Family
PF00571 CBS
547 → 605
CBS domain
 Domain
Sequence
Sequence length 687
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Collecting duct acid secretion   Stimuli-sensing channels
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Bartter syndrome BARTTER SYNDROME, TYPE 4B, Classic Bartter syndrome, Bartter Disease, Bartter syndrome, type 3, BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS rs74315284, rs74315285, rs1389952796, rs74315286, rs74315287, rs74315288, rs74315289, rs121908144, rs121908145, rs121909137, rs121909138, rs121909131, rs121909132, rs121909133, rs121909134, rs121909135, rs779908241, rs121909136, rs104893706, rs137853158, rs137853159, rs774515747, rs1057519608, rs104894244, rs2135941091, rs104894245, rs104894253, rs104894254, rs104894250, rs104894251, rs397514729, rs863224858, rs765347751, rs878854404, rs878854405, rs878854406, rs878854407, rs875989852, rs886039870, rs779588655, rs201707868, rs1057516207, rs185212943, rs1057520300, rs1057520301, rs1057520302, rs1057520303, rs1057520304, rs370221310, rs779593707, rs377205432, rs1555466999, rs953686324, rs768286324, rs746509804, rs771232166, rs1566857461, rs373367600, rs1159737562, rs769554073, rs1570334344, rs201781905, rs377215024, rs755714542, rs1570340095, rs1570341086, rs1180658535, rs764247288, rs865973286, rs1007109925, rs1411280373, rs1380025163, rs758961147 10561751, 24058621, 17622951, 9326936, 23550235, 18310267, 23550235, 16391491
Bartter syndrome with hypocalciuria Bartter Syndrome, Type 3, with Hypocalciuria rs121909136, rs554794449
Bartter syndrome with sensorineural deafness Infantile Bartter syndrome with sensorineural deafness, BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS rs1191726071
Chondrocalcinosis Calcium pyrophosphate deposition disease rs121908405, rs28939080, rs121908407, rs2126640512, rs121908408, rs121908409, rs121908410
Unknown
Disease name Disease term dbSNP ID References
Conn syndrome Conn Syndrome
Diabetic ketoacidosis Diabetic Ketoacidosis
Focal seizures Focal seizures, afebril
Gitelman syndrome Gitelman Syndrome 20931281, 18667063, 19265611

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