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

Gene ID: 1188, updated on 25-Jan-2022

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
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (16043782..16057326)
105.20201022 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 chloride voltage-gated channel Ka Neighboring gene family with sequence similarity 131 member C pseudogene Neighboring gene CLCNKB recombination region Neighboring gene family with sequence similarity 131 member C Neighboring gene EPH receptor A2 Neighboring gene EPHA2 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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?

General gene information

Markers

Homology

Clone Names

  • MGC24087

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables voltage-gated chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in chloride transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in excretion TAS
Traceable Author Statement
more info
PubMed 
involved_in ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_013079.1 RefSeqGene

    Range
    4985..18575
    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
    P51801
    UniProtKB/TrEMBL
    A8K8H0
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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