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

Gene ID: 1188, updated on 19-Jul-2014
Official Symbol
CLCNKBprovided by HGNC
Official Full Name
chloride channel, voltage-sensitive Kbprovided by HGNC
Primary source
HGNC:2027
Locus tag
RP11-5P18.8
See related
Ensembl:ENSG00000184908; HPRD:03607; MIM:602023; Vega:OTTHUMG00000009530
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]
See CLCNKB in Epigenomics, MapViewer
Location:
1p36
Exon count:
20
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (16043736..16057326)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (16370231..16383821)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene chloride channel, voltage-sensitive Ka Neighboring gene family with sequence similarity 131, member C pseudogene Neighboring gene family with sequence similarity 131, member C Neighboring gene EPH receptor A2 Neighboring gene uncharacterized LOC101927479

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Collecting duct acid secretion, organism-specific biosystem (from KEGG)
    Collecting duct acid secretion, organism-specific biosystemOne of the important roles of the collecting duct segment of the kidney nephron is acid secretion. As daily food intake loads acid into the body, urinary acid excretion is essential, and urine pH can...
  • Collecting duct acid secretion, conserved biosystem (from KEGG)
    Collecting duct acid secretion, conserved biosystemOne of the important roles of the collecting duct segment of the kidney nephron is acid secretion. As daily food intake loads acid into the body, urinary acid excretion is essential, and urine pH can...
  • Ion channel transport, organism-specific biosystem (from REACTOME)
    Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
  • Stimuli-sensing channels, organism-specific biosystem (from REACTOME)
    Stimuli-sensing channels, organism-specific biosystemIon channels that mediate sensations such as pain, warmth, cold, taste pressure and vision. Channels that mediate these sensations include acid-sensing ion channels (ASICs) (Wang & Xu 2011, Qadri et ...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC24087

Gene Ontology Provided by GOA

Function Evidence Code Pubs
adenyl nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
voltage-gated chloride channel activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
excretion TAS
Traceable Author Statement
more info
PubMed 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
regulation of anion transport IEA
Inferred from Electronic Annotation
more info
 
regulation of anion transport TAS
Traceable Author Statement
more info
PubMed 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
chloride channel protein ClC-Kb
Names
chloride channel protein ClC-Kb
chloride channel, kidney, B

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 

    Range
    4985..18575
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000085.4NP_000076.2  chloride channel protein ClC-Kb isoform 1

    See proteins identical to NP_000076.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK098217, AK292335, AL355994, DA624942, DA627682, DA633177
    Consensus CDS
    CCDS168.1
    UniProtKB/TrEMBL
    A8K8H0
    UniProtKB/Swiss-Prot
    P51801
    Related
    ENSP00000364831, OTTHUMP00000011120, ENST00000375679, OTTHUMT00000026331
    Conserved Domains (2) summary
    cd03683
    Location:49534
    Blast Score: 1462
    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
    Blast Score: 212
    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 ...
  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, OTTHUMP00000011121, ENST00000375667, OTTHUMT00000026332
    Conserved Domains (2) summary
    cd04591
    Location:386506
    Blast Score: 214
    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 ...
    cl02915
    Location:50365
    Blast Score: 920
    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 Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    16043736..16057326
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245733.1XP_005245790.1  

    Conserved Domains (2) summary
    cd03683
    Location:49534
    Blast Score: 1461
    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:555675
    Blast Score: 213
    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 ...

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    14893788..14902305
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006710070.1XP_006710133.1  

  2. XM_006710069.1XP_006710132.1  

    Conserved Domains (2) summary
    cd04591
    Location:386507
    Blast Score: 206
    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 ...
    cl02915
    Location:50365
    Blast Score: 923
    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 ...

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    16168758..16182434
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)