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CLCN1 Gene

protein-coding   GIFtS: 62
GCID: GC07P143013

Chloride Channel, Voltage-Sensitive 1

(Previous names: chloride channel 1, skeletal muscle)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chloride Channel, Voltage-Sensitive 11 2     Thomsen Disease1
Chloride Channel 1, Skeletal Muscle1 2     Chloride Channel Protein 12
Chloride Channel Protein, Skeletal Muscle2 3     clC-12
CLC12 3     ClC-13
Autosomal Dominant1     

External Ids:    HGNC: 20191   Entrez Gene: 11802   Ensembl: ENSG000001880377   OMIM: 1184255   UniProtKB: P355233   

Export aliases for CLCN1 gene to outside databases

Previous GC identifers: GC07P141339 GC07P142407 GC07P142484 GC07P142530 GC07P142723 GC07P137350


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CLCN1 Gene:
The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which
demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein
encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene
cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and
dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. (provided by RefSeq,
Mar 2012)

GeneCards Summary for CLCN1 Gene:
CLCN1 (chloride channel, voltage-sensitive 1) is a protein-coding gene. Diseases associated with CLCN1 include becker's myotonia, and myotonia congenita autosomal dominant. GO annotations related to this gene include chloride channel activity and adenyl nucleotide binding. An important paralog of this gene is CLCN4.

UniProtKB/Swiss-Prot: CLCN1_HUMAN, P35523
Function: Voltage-gated chloride channel. Chloride channels have several functions including the regulation of
cell volume; membrane potential stabilization, signal transduction and transepithelial transport

Gene Wiki entry for CLCN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007933.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the CLCN1 gene promoter:
         Max1   Sox5   MIF-1   AREB6   PPAR-gamma1   FOXO4   PPAR-gamma2   MRF-2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCLCN1 promoter sequence
   Search Chromatin IP Primers for CLCN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CLCN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q35   Ensembl cytogenetic band:  7q34   HGNC cytogenetic band: 7q12

CLCN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLCN1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P143013:  view genomic region     (about GC identifiers)

Start:
143,013,219 bp from pter      End:
143,049,176 bp from pter
Size:
35,958 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 142,415,337-142,451,223     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CLCN1_HUMAN, P35523 (See protein sequence)
Recommended Name: Chloride channel protein 1  
Size: 988 amino acids; 108626 Da
Subunit: Homotetramer (Probable)
Miscellaneous: The CLC channel family contains both chloride channels and proton-coupled anion transporters that
exchange chloride or another anion for protons. The absence of conserved gating glutamate residues is typical for
family members that function as channels
Secondary accessions: A4D2H5 Q2M202

Explore the universe of human proteins at neXtProt for CLCN1: NX_P35523

Explore proteomics data for CLCN1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CLCN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000074.2  
    ENSEMBL proteins: 
     ENSP00000339867   ENSP00000395949   ENSP00000400027  
    Reactome Protein details: P35523

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CLCN: Ion channels / Chloride channels : Voltage-sensitive

    IUPHAR Guide to PHARMACOLOGY protein family classification: ClC-1
    ClC family

    4 InterPro protein domains:
     IPR014743 Cl-channel_core
     IPR000644 CBS_dom
     IPR002243 Cl_channel-1
     IPR001807 Cl-channel_volt-gated

    Graphical View of Domain Structure for InterPro Entry P35523

    ProtoNet protein and cluster: P35523

    3 Blocks protein domains:
    IPB000644 CBS domain
    IPB001807 Chloride channel signature
    IPB002243 CLC-1 chloride channel signature


    UniProtKB/Swiss-Prot: CLCN1_HUMAN, P35523
    Similarity: Belongs to the chloride channel (TC 2.A.49) family. ClC-1/CLCN1 subfamily
    Similarity: Contains 2 CBS domains


    CLCN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLCN1_HUMAN, P35523
    Function: Voltage-gated chloride channel. Chloride channels have several functions including the regulation of
    cell volume; membrane potential stabilization, signal transduction and transepithelial transport

         Genatlas biochemistry entry for CLCN1:
    chloride voltage-gated channel 1,skeletal muscle

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005247voltage-gated chloride channel activity IEA--
    GO:0005254chloride channel activity TAS1379744
    GO:0030554adenyl nucleotide binding IEA--
         
    CLCN1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for CLCN1:
     Decreased POU5F1-GFP protein e  Decreased nuclei size in G2M  Synthetic lethal with Ras 

         12 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Clcn1):
     behavior/neurological  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism  integument 
     mortality/aging  muscle  nervous system  no phenotypic analysis  reproductive system 
     skeleton  vision/eye 

    CLCN1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CLCN1
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CLCN1_HUMAN, P35523: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS9122265
    GO:0016020membrane ----
    GO:0034707chloride channel complex IEA--
    GO:0042383sarcolemma IEA--

    CLCN1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CLCN1 About    
    See pathways by source

    SuperPathContained pathways About
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    2Ion channel transport
    Ion channel transport0.58
    Stimuli-sensing channels0.58
    3Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    4Hepatic ABC Transporters
    Hepatic ABC Transporters0.41
    5Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Cholera Infection0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CLCN1
        Cholera Infection
    Hepatic ABC Transporters
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA

    1 Reactome Pathway for CLCN1
        Stimuli-sensing channels



    CLCN1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CLCN1
    Interactions:

        Search GeneGlobe Interaction Network for CLCN1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for CLCN1 (ENSP000003398674) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRBNENSP000002319484STRING: ENSP00000231948
    ASNA1ENSP000003498874STRING: ENSP00000349887
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS9122265
    GO:0006821chloride transport ----
    GO:0006936muscle contraction TAS1379744
    GO:0019227neuronal action potential propagation IEA--
    GO:0034220ion transmembrane transport TAS--

    CLCN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CLCN1

    1 HMDB Compound for CLCN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--

    7 IUPHAR Ligands for CLCN1 (ClC-1)    About this table
    LigandTypeActionAffinityPubmed IDs
    S-(-)CPP
    Channel blockerNone--
    Zn2+
    Channel blockerNone--
    fenofibric acid
    Channel blockerNone--
    niflumic acid
    Channel blockerNone--
    S-(-)CPB
    Channel blockerNone--
    Cd2+
    Channel blockerNone--
    9-A-C
    Channel blockerNone--

    2 Novoseek inferred chemical compound relationships for CLCN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chloride 85.3 72 8857733 (3), 17708420 (2), 1659665 (2), 10533075 (2) (see all 52)
    sodium 40.9 6 9196902 (1), 20076800 (1), 16981011 (1), 11933197 (1) (see all 5)



    CLCN1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CLCN1 gene: 
    NM_000083.2  

    Unigene Cluster for CLCN1:

    Chloride channel, voltage-sensitive 1
    Hs.121483  [show with all ESTs]
    Unigene Representative Sequence: NM_000083
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000343257(uc003wcr.1 uc011ktc.1 uc010loy.1) ENST00000432192(uc010lox.1)
    ENST00000455478(uc003wcs.1) ENST00000495612
    miRNA
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    Additional mRNA sequence: 

    AY103154.1 AY103155.1 AY103156.1 BC112156.1 BC113495.1 BC143796.1 M97820.1 NR_046453.1 
    Z25884.1 

    1 DOTS entry:

    DT.306330 

    7 AceView cDNA sequences:

    Z25884 NM_000083 AY103156 M97820 AY103155 AY103154 BF349282 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CLCN1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25
    SP1:                                      -     -                                                                                                         
    SP2:                                                                                                                                                      
    SP3:                                -                                                                                                                     
    SP4:                                -     -     -     -                                                                                                   


    ECgene alternative splicing isoforms for CLCN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CLCN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGAAGCTCA
    CLCN1 Expression
    About this image


    CLCN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Cerebral Cortex
             Olfactory Bulb   
     
     Skeletal Muscle (Muscoskeletal System)
    CLCN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CLCN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.121483

    UniProtKB/Swiss-Prot: CLCN1_HUMAN, P35523
    Tissue specificity: Predominantly expressed in skeletal muscles

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CLCN1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Clcn11 , 5 chloride channel 11, 5 85.89(n)1
    88.32(a)1
      6 (20.57 cM)5
    127231  NM_013491.21  NP_038519.11 
     422866855 
    chicken
    (Gallus gallus)
    Aves CLCN11 chloride channel, voltage-sensitive 1 66.7(n)
    67.88(a)
      427949  XM_004938123.1  XP_004938180.1 
    lizard
    (Anolis carolinensis)
    Reptilia CLCN16
    chloride channel, voltage-sensitive 1
    66(a)
    1 ↔ 1
    GL343391.1(796410-873987)
    zebrafish
    (Danio rerio)
    Actinopterygii clcn1a1 chloride channel 1a 64.95(n)
    67.88(a)
      795133  NM_001082910.1  NP_001076379.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ClC-a6
    Chloride channel-a
    33(a)
    1 → many
    3R(7622966-7638929)
    worm
    (Caenorhabditis elegans)
    Secernentea clh-33 Chloride channel protein 39(a)   II(7218345-7222930)   --


    ENSEMBL Gene Tree for CLCN1 (if available)
    TreeFam Gene Tree for CLCN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CLCN1 gene
    CLCN42  CLCN62  CLCNKB2  CLCN52  CLCN72  CLCN32  CLCNKA2  CLCN22  
    5 SIMAP similar genes for CLCN1 using alignment to 4 protein entries:     CLCN1_HUMAN (see all proteins):
    CLCN3    CLCN2    CLCNKA    CLCN7    CLCNKB

    CLCN1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CLCN1 (see all 1055)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2015095011,2,,4
    CMyotonia congenita, autosomal recessive (MCR)4 --146381742(+) TCCACC/TGCCTG 2 R C mis10--------
    rs1497295311,2,,4
    C,FMyotonia congenita, autosomal recessive (MCR)4 --146382499(+) ACCTTC/GCCACT 2 F L mis12Minor allele frequency- G:0.00NA EU 5875
    rs2006219761,2,,4
    Myotonia congenita, autosomal recessive (MCR)4 --146385488(+) GCCATA/GCTACT 2 Y C mis10--------
    rs1464576191,2,,4
    C,FMyotonia congenita, autosomal recessive (MCR)4 --146400367(+) GCTTCA/GTGCCT 2 M V mis12Minor allele frequency- G:0.00NA EU 5743
    VAR_0016034
    Myotonia congenita, autosomal recessive (MCR)4--see VAR_0016032 R Q mis40--------
    VAR_0015844
    Myotonia congenita, autosomal recessive (MCR)4--see VAR_0015842 D G mis40--------
    VAR_0015964
    Myotonia congenita, autosomal recessive (MCR)4--see VAR_0015962 E K mis40--------
    VAR_0016004
    Myotonia congenita, autosomal dominant (MCD)4--see VAR_0016002 R Q mis40--------
    VAR_0016124
    Myotonia congenita, autosomal recessive (MCR)4--see VAR_0016122 I N mis40--------
    VAR_0016114
    Myotonia congenita, autosomal recessive (MCR)4--see VAR_0016112 Q R mis40--------

    HapMap Linkage Disequilibrium report for CLCN1 (143013219 - 143049176 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CLCN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv5985CNV Insertion18451855
    nsv831169CNV Loss17160897
    nsv5984CNV Loss18451855

    Human Gene Mutation Database (HGMD): CLCN1
    Locus Specific Mutation Databases (LSDB): CLCN1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CLCN1
    DNA2.0 Custom Variant and Variant Library Synthesis for CLCN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 118425   
    OMIM disorders: 255700  160800  
    UniProtKB/Swiss-Prot: CLCN1_HUMAN, P35523
  • Myotonia congenita, autosomal dominant (MCD) [MIM:160800]: A non-dystrophic skeletal muscle disorder
    characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most
    patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many
    patients show marked hypertrophy of the lower limb muscles. The autosomal dominant form (Thomsen disease) is less
    common and less severe than the autosomal recessive one (Becker disease). A milder form of autosomal dominant
    myotonia is characterized by isolated myotonia without muscle weakness, hypotrophy, or hypertrophy (myotonia
    levior). Note=The disease is caused by mutations affecting the gene represented in this entry
  • Myotonia congenita, autosomal recessive (MCR) [MIM:255700]: A non-dystrophic skeletal muscle disorder
    characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most
    patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many
    patients show marked hypertrophy of the lower limb muscles. The autosomal recessive form (Becker disease) is more
    severe than the autosomal dominant one (Thomsen disease). Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • Selected diseases for CLCN1 (see all 33):    
    About MalaCards
    becker's myotonia    myotonia congenita autosomal dominant    myotonia    myotonia congenita, dominant
    myotonia congenita, recessive    thomsen's myotonia    myotonia congenita autosomal recessive    endomyocardial fibrosis
    thomsen disease    myotonia levior, recessive    myotonic dystrophy type 2    hyperkalemic periodic paralysis
    kennedy's disease    myotonic dystrophy    myotonic dystrophy type 1    bartter disease
    hypokalemic periodic paralysis    dent's disease    nephrocalcinosis    osteopetrosis

    5 diseases from the University of Copenhagen DISEASES database for CLCN1:
    Thomsen disease     Endomyocardial fibrosis     Myotonic dystrophy     Hypokalemic periodic paralysis
    Hyperkalemic periodic paralysis

    CLCN1 for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for CLCN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myotonia congenita 98.6 60 15116370 (4), 15162127 (3), 8857733 (3), 20399394 (3) (see all 36)
    myotonia generalized becker 95.4 2 7951242 (1), 7951215 (1)
    myotonic disorders 91.7 3 9196902 (1), 7951242 (1), 11113225 (1)
    promm 82.6 2 9576553 (1), 14742629 (1)
    myotonic dystrophy 79 4 18807109 (3), 17215330 (1)
    endomyocardial fibrosis 76.3 4 17717708 (1), 18624224 (1), 10215406 (1), 11113225 (1)
    myopathy 57.5 1 10720929 (1)
    hypertrophy 47.7 1 11840191 (1)

    GeneTests: CLCN1
    GeneReviews: CLCN1
    Genetic Association Database (GAD): CLCN1
    Human Genome Epidemiology (HuGE) Navigator: CLCN1 (7 documents)

    Export disorders for CLCN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for CLCN1 gene, integrated from 10 sources (see all 151):
    (articles sorted by number of sources associating them with CLCN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The skeletal muscle chloride channel in dominant and recessive human myotonia. (PubMed id 1379744)1, 2, 3, 9 Koch M.C.... Jentsch T.J. (Science 1992)
    2. In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. (PubMed id 18337730)1, 4, 9 Trip J....Ginjaar I.B. (Eur. J. Hum. Genet. 2008)
    3. High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany. (PubMed id 18807109)1, 4, 9 Suominen T....Udd B. (J. Neurol. 2008)
    4. Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance. (PubMed id 9566422)1, 2, 9 Plassart-Schiess E.... Fontaine B. (Neurology 1998)
    5. Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. (PubMed id 10215406)1, 2, 9 Sangiuolo F.... Dallapiccola B. (Hum. Mutat. 1998)
    6. Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. (PubMed id 8533761)1, 2, 9 Meyer-Kleine C.... Koch M.C. (Am. J. Hum. Genet. 1995)
    7. Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). (PubMed id 8112288)1, 2, 9 Steinmeyer K.... Jentsch T.J. (EMBO J. 1994)
    8. Myotonia levior is a chloride channel disorder. (PubMed id 7581380)1, 2, 9 Lehmann-Horn F.... George A.L. Jr. (Hum. Mol. Genet. 1995)
    9. Novel muscle chloride channel mutations and their effects on heterozygous carriers. (PubMed id 8571958)1, 2, 9 Mailaender V.... Lehmann-Horn F. (Am. J. Hum. Genet. 1996)
    10. Genomic organization of the human muscle chloride channel ClC-1 and analysis of novel mutations leading to Becker-type myotonia. (PubMed id 7951242)1, 2, 9 Lorenz C.... Jentsch T.J. (Hum. Mol. Genet. 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1180 HGNC: 2019 AceView: CLCN1 Ensembl:ENSG00000188037 euGenes: HUgn1180
    ECgene: CLCN1 H-InvDB: CLCN1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CLCN1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CLCN1[genesymbol]

    (Patent information from GeneIP,
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    Patent Information for CLCN1 gene:
    Search GeneIP for patents involving CLCN1

    GeneCards and IP:
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