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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CLCN1 Gene

protein-coding   GIFtS: 62
GCID: GC07P143013

Chloride Channel, Voltage-Sensitive 1

(Previous names: chloride channel 1, skeletal muscle)
Microbiology & Infectious Diseases Congress
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at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 myotonia, and thomsen disease, and among its related super-pathways are Activation of cAMP-Dependent PKA and Stimuli-sensing channels. GO annotations related to this gene include chloride channel activity and voltage-gated chloride channel activity. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007914.15  NT_079596.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CLCN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CLCN1_HUMAN, P35523 (See protein sequence)
Recommended Name: Chloride channel protein 1  
Size: 988 amino acids; 108626 Da
Subunit: Homotetramer (Probable)
Subcellular location: Membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P35523

  • CLCN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CLCN1 Protein Expression
    REFSEQ proteins: NP_000074.2  
    ENSEMBL proteins: 
     ENSP00000339867   ENSP00000395949   ENSP00000400027  
    Reactome Protein details: P35523
    Human Recombinant Protein Products for CLCN1: 
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    Cloud-Clone Corp. Proteins for CLCN1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

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

    CLCN1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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 Cysta_beta_synth_core
     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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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  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:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CLCN1 
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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 transport0.49
    Stimuli-sensing channels0.49
    3SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50
    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 QIAGEN Pathway Central Maps for CLCN1
        Cholera Infection
    Hepatic ABC Transporters
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA

    3        Reactome Pathways for CLCN1
        Transmembrane transport of small molecules
    Stimuli-sensing channels
    Ion channel transport



    CLCN1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CLCN1

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CLCN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about CLCN1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    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 AY103156 M97820 NM_000083 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CLCN1 expression in normal human tissues (normalized intensities)      CLCN1 embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Thalamus
             Olfactory Bulb   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             gastrocnemius muscle   
     
     Spinal Cord (Nervous System)
             Dorsal Horn   

     -- (Muscoskeletal System)
             muscle   

    See CLCN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CLCN1

    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
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLCN1

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CLCN1 gene from 6/11 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 86.06(n)1
    88.53(a)1
      6 (20.57 cM)5
    127231  NM_013491.21  NP_038519.11 
     422866855 
    chicken
    (Gallus gallus)
    Aves CLCN11 chloride channel 1, skeletal muscle 67.97(n)
    69.21(a)
      427949  XM_425521.3  XP_425521.3 
    lizard
    (Anolis carolinensis)
    Reptilia CLCN16
    chloride channel, voltage-sensitive 1
    66(a)
    1 ↔ 1
    GL343391.1(796410-873987)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5674781 chloride channel protein 1-like 64.97(n)
    69.36(a)
      567478  XM_690774.5  XP_695866.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta ClC-a6
    Chloride channel-a
    31(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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1055 SNPs in CLCN1 are shown (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
    ----------
    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--------
    VAR_0363004
    A breast cancer sample4--see VAR_0363002 E K mis40--------
    VAR_0016024
    Myotonia congenita, autosomal recessive (MCR)4--see VAR_0016022 I T mis40--------
    VAR_0015914
    Myotonia congenita, autosomal recessive (MCR)4--see VAR_0015912 V L mis40--------
    VAR_0016074
    Myotonia congenita, autosomal dominant (MCD)4--see VAR_0016072 P L 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/27 diseases for CLCN1 (see all 27):    About MalaCards
    myotonia    thomsen disease    myotonia congenita autosomal recessive    muscle disorders
    endomyocardial fibrosis    myotonia congenita autosomal dominant    myotonia congenita, dominant    myotonia congenita, recessive
    myotonic dystrophy type 2    kennedy's disease    hyperkalemic periodic paralysis    myotonic dystrophy
    myotonic dystrophy type 1    bartter disease    dent's disease    hypokalemic periodic paralysis
    nephrocalcinosis    paralysis    osteopetrosis    hypogonadism

    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

    PubMed articles for CLCN1 gene, integrated from 9 sources (see all 149):
    (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. (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. (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. (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. (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. (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. (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. (1994)
    8. Myotonia levior is a chloride channel disorder. (PubMed id 7581380)1, 2, 9 Lehmann-Horn F.... George A.L. Jr. (1995)
    9. Novel muscle chloride channel mutations and their effects on heterozygous carriers. (PubMed id 8571958)1, 2, 9 Mailaender V.... Lehmann-Horn F. (1996)
    10. Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. (PubMed id 7951242)1, 2, 9 Lorenz C.... Jentsch T.J. (1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1180 HGNC: 2019 AceView: CLCN1 Ensembl:ENSG00000188037 euGenes: HUgn1180
    ECgene: CLCN1 H-InvDB: CLCN1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CLCN1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CLCN1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CLCN1 gene:
    Search GeneIP for patents involving CLCN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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