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    Clcn2 chloride channel, voltage-sensitive 2 [ Mus musculus (house mouse) ]

    Gene ID: 12724, updated on 27-Nov-2024

    Summary

    Official Symbol
    Clcn2provided by MGI
    Official Full Name
    chloride channel, voltage-sensitive 2provided by MGI
    Primary source
    MGI:MGI:105061
    See related
    Ensembl:ENSMUSG00000022843 AllianceGenome:MGI:105061
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Clc2; ClC-2; nmf240
    Summary
    Enables voltage-gated chloride channel activity. Involved in chloride transport; regulation of resting membrane potential; and stabilization of membrane potential. Acts upstream of or within acinar cell differentiation; cell differentiation involved in salivary gland development; and retina development in camera-type eye. Located in astrocyte end-foot; basolateral plasma membrane; and myelin sheath. Is expressed in several structures, including central nervous system; gonad; hindlimb phalanx; notochord; and visual system. Used to study leukodystrophy and primary hyperaldosteronism. Human ortholog(s) of this gene implicated in idiopathic generalized epilepsy 11 and primary hyperaldosteronism. Orthologous to human CLCN2 (chloride voltage-gated channel 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in colon adult (RPKM 62.6), adrenal adult (RPKM 45.6) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Clcn2 in Genome Data Viewer
    Location:
    16 A3- B1; 16 12.5 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (20521185..20536496, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (20702435..20717746, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene eukaryotic translation elongation factor 1 gamma pseudogene Neighboring gene eukaryotic translation initiation factor 4, gamma 1 Neighboring gene small nucleolar RNA, C/D box 66 Neighboring gene family with sequence similarity 131, member A Neighboring gene STARR-seq mESC enhancer starr_40329 Neighboring gene STARR-positive B cell enhancer ABC_E1489 Neighboring gene polymerase (RNA) II (DNA directed) polypeptide H Neighboring gene STARR-seq mESC enhancer starr_40331 Neighboring gene thrombopoietin Neighboring gene chordin

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables chloride channel regulator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables voltage-gated chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables voltage-gated chloride channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables voltage-gated chloride channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables voltage-gated chloride channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables voltage-gated monoatomic anion channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables volume-sensitive chloride channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within acinar cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cell differentiation involved in salivary gland development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular hypotonic response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chloride transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chloride transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chloride transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in lung development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in phagocytosis, engulfment IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phagocytosis, engulfment ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of oligodendrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of oligodendrocyte differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of aldosterone biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of aldosterone biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of membrane depolarization during action potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of resting membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within retina development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in stabilization of membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in astrocyte end-foot IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in astrocyte end-foot ISO
    Inferred from Sequence Orthology
    more info
     
    located_in axon initial segment IEA
    Inferred from Electronic Annotation
    more info
     
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in basolateral plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in dendrite ISO
    Inferred from Sequence Orthology
    more info
     
    located_in dendritic spine membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in myelin sheath IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in myelin sheath ISO
    Inferred from Sequence Orthology
    more info
     
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perikaryon ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    chloride channel protein 2
    Names
    chloride channel 2

    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.

    mRNA and Protein(s)

    1. NM_001416768.1NP_001403697.1  chloride channel protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC087898, CT010490
      Related
      ENSMUST00000148131.8
    2. NM_001416769.1NP_001403698.1  chloride channel protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC087898, CT010490
      Related
      ENSMUST00000153075.8
    3. NM_001416770.1NP_001403699.1  chloride channel protein 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      CT010490
    4. NM_009900.3NP_034030.2  chloride channel protein 2 isoform 1

      See identical proteins and their annotated locations for NP_034030.2

      Status: VALIDATED

      Source sequence(s)
      AC087898, CT010490
      Consensus CDS
      CCDS28057.1
      UniProtKB/Swiss-Prot
      Q0VBC2, Q9R0A1, Q9WUJ9
      UniProtKB/TrEMBL
      A9C437
      Related
      ENSMUSP00000007207.9, ENSMUST00000007207.15
      Conserved Domains (3) summary
      cd03683
      Location:98575
      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:800848
      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:151554
      Voltage_CLC; Voltage gated chloride channel

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000082.7 Reference GRCm39 C57BL/6J

      Range
      20521185..20536496 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006521749.5XP_006521812.1  chloride channel protein 2 isoform X2

      Conserved Domains (2) summary
      cl02915
      Location:15309
      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 ...
      cd04591
      Location:321582
      CBS_pair_voltage-gated_CLC_euk_bac; Two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the voltage gated CLC (chloride channel) in eukaryotes and bacteria
    2. XM_030248952.2XP_030104812.1  chloride channel protein 2 isoform X2

      Conserved Domains (2) summary
      cl02915
      Location:15309
      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 ...
      cd04591
      Location:321582
      CBS_pair_voltage-gated_CLC_euk_bac; Two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the voltage gated CLC (chloride channel) in eukaryotes and bacteria

    RNA

    1. XR_384520.4 RNA Sequence

    2. XR_003951749.2 RNA Sequence

    3. XR_004939155.1 RNA Sequence

    4. XR_001781785.3 RNA Sequence

    5. XR_004939154.1 RNA Sequence

    6. XR_003951748.2 RNA Sequence

    7. XR_003951747.2 RNA Sequence