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    CLCNKB chloride voltage-gated channel Kb [ Homo sapiens (human) ]

    Gene ID: 1188, updated on 2-Nov-2024

    Summary

    Official Symbol
    CLCNKBprovided by HGNC
    Official Full Name
    chloride voltage-gated channel Kbprovided by HGNC
    Primary source
    HGNC:HGNC:2027
    See related
    Ensembl:ENSG00000184908 MIM:602023; AllianceGenome:HGNC:2027
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CLCKB; ClC-K2; ClC-Kb
    Summary
    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]
    Expression
    Biased expression in kidney (RPKM 65.3), salivary gland (RPKM 9.9) and 1 other tissue See more
    Orthologs
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    Genomic context

    See CLCNKB in Genome Data Viewer
    Location:
    1p36.13
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (16043782..16057326)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (15485085..15498707)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (16370277..16383821)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CLCNKA recombination region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16352537-16353445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16356923-16357422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16358660-16359467 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16359468-16360274 Neighboring gene chloride voltage-gated channel Ka Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16365121-16365621 Neighboring gene family with sequence similarity 131 member C pseudogene Neighboring gene CLCNKB recombination region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16374236-16375139 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16375140-16376042 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16376043-16376946 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16376947-16377848 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:16387001-16387191 Neighboring gene family with sequence similarity 131 member C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 323 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16400409-16400908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16408357-16408856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16408906-16409838 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16440794-16441636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16442478-16443319 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16444655-16445328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16446600-16447156 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16449091-16449770 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:16457212-16457413 Neighboring gene EPH receptor A2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16467866-16468833 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16470345-16470872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16470873-16471401 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16472987-16473515 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16476741-16477376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16477377-16478012 Neighboring gene EPHA2 antisense RNA 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Bartter disease type 3
    MedGen: C1846343 OMIM: 607364 GeneReviews: Not available
    not available
    Bartter disease type 4B
    MedGen: C4310805 OMIM: 613090 GeneReviews: Not available
    not available

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • MGC24087

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chloride channel activity PubMed 
    enables metal ion binding  
    enables protein binding PubMed 
    enables voltage-gated chloride channel activity  
    Component Evidence Code Pubs
    located_in basolateral plasma membrane PubMed 
    part_of chloride channel complex  
    is_active_in plasma membrane  
    located_in plasma membrane  

    General protein information

    Preferred Names
    chloride channel protein ClC-Kb
    Names
    chloride channel, kidney, B
    chloride channel, voltage-sensitive Kb

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013079.2 RefSeqGene

      Range
      5002..18528
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000085.5NP_000076.2  chloride channel protein ClC-Kb isoform 1

      See identical proteins and their annotated locations for NP_000076.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL355994
      Consensus CDS
      CCDS168.1
      UniProtKB/Swiss-Prot
      B3KUY3, P51801, Q5T5Q7, Q5T5Q8
      UniProtKB/TrEMBL
      A0A804HJB2
      Related
      ENSP00000364831.5, ENST00000375679.9
      Conserved Domains (3) summary
      cd03683
      Location:49534
      ClC_1_like; ClC-1-like chloride channel proteins. This CD includes isoforms ClC-0, ClC-1, ClC-2 and ClC_K. ClC-1 is expressed in skeletal muscle and its mutation leads to both recessively and dominantly-inherited forms of muscle stiffness or myotonia. ClC-K is ...
      cd04591
      Location:555676
      CBS_pair_EriC_assoc_euk_bac; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in the EriC CIC-type chloride channels in eukaryotes and bacteria. These ion channels are proteins with a seemingly simple task of allowing the passive flow of ...
      pfam00654
      Location:106513
      Voltage_CLC; Voltage gated chloride channel
    2. NM_001165945.2NP_001159417.2  chloride channel protein ClC-Kb isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has a different 5' UTR, uses an alternate splice site in the 3' coding region, and initiates translation from a different start codon compared to variant 1. This results in a shorter isoform (2) with a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AK098217, AL355994, DA369686, DA424588
      Consensus CDS
      CCDS57974.1
      UniProtKB/Swiss-Prot
      P51801
      Related
      ENSP00000364819.3, ENST00000375667.7
      Conserved Domains (3) summary
      cd04591
      Location:386506
      CBS_pair_EriC_assoc_euk_bac; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in the EriC CIC-type chloride channels in eukaryotes and bacteria. These ion channels are proteins with a seemingly simple task of allowing the passive flow of ...
      pfam00654
      Location:50344
      Voltage_CLC; Voltage gated chloride channel
      cl02915
      Location:50365
      Voltage_gated_ClC; CLC voltage-gated chloride channel. The ClC chloride channels catalyse the selective flow of Cl- ions across cell membranes, thereby regulating electrical excitation in skeletal muscle and the flow of salt and water across epithelial barriers. This ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      16043782..16057326
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      15485085..15498707
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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