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CLCN4 Gene

protein-coding   GIFtS: 62
GCID: GC0XP010085

Chloride Channel, Voltage-Sensitive 4

(Previous name: chloride channel 4)
  See CLCN4-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 41 2     ClC-42 3
Chloride Channel 41 2     CLC42
Chloride Channel Protein 42 3     ClC-4A2
Chloride Transporter ClC-42 3     H(+)/Cl(-) Exchange Transporter 42

External Ids:    HGNC: 20221   Entrez Gene: 11832   Ensembl: ENSG000000734647   OMIM: 3029105   UniProtKB: P517933   

Export aliases for CLCN4 gene to outside databases

Previous GC identifers: GC0XP009154 GC0XP008940 GC0XP009471 GC0XP009536 GC0XP009934 GC0XP007954


(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 CLCN4 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. Chloride
channel 4 has an evolutionary conserved CpG island and is conserved in both mouse and hamster. This gene is
mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which
are both located on the human X chromosome at band p22.3. The physiological role of chloride channel 4 remains
unknown but may contribute to the pathogenesis of neuronal disorders. Alternate splicing results in two
transcript variants that encode different proteins. (provided by RefSeq, Mar 2012)

GeneCards Summary for CLCN4 Gene:
CLCN4 (chloride channel, voltage-sensitive 4) is a protein-coding gene. Diseases associated with CLCN4 include microphthalmia with linear skin defects syndrome, and ocular albinism. GO annotations related to this gene include antiporter activity and chloride channel activity. An important paralog of this gene is CLCN6.

UniProtKB/Swiss-Prot: CLCN4_HUMAN, P51793
Function: Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against
protons

Gene Wiki entry for CLCN4 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 at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_167197.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CLCN4 gene promoter:
         CREB   CRE-BP1   deltaCREB   ATF-2   c-Jun   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CLCN4 promoter sequence
   Search Chromatin IP Primers for CLCN4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CLCN4


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

Entrez Gene cytogenetic band: Xp22.3   Ensembl cytogenetic band:  Xp22.2   HGNC cytogenetic band: Xp22.3

CLCN4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLCN4 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP010085:  view genomic region     (about GC identifiers)

Start:
10,124,985 bp from pter      End:
10,205,700 bp from pter
Size:
80,716 bases      Orientation:
plus strand

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: CLCN4_HUMAN, P51793 (See protein sequence)
Recommended Name: H(+)/Cl(-) exchange transporter 4  
Size: 760 amino acids; 84917 Da
Miscellaneous: The CLC channel family contains both chloride channels and proton-coupled anion transporters that
exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is typical
for family members that function as antiporters
Secondary accessions: A1L3U1 Q9UBU1

Explore the universe of human proteins at neXtProt for CLCN4: NX_P51793

Explore proteomics data for CLCN4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CLCN4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001243873.1  NP_001821.2  

    ENSEMBL proteins: 
     ENSP00000370213   ENSP00000370209   ENSP00000403064   ENSP00000405754  
    Reactome Protein details: P51793

    CLCN4 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for CLCN4

     
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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-4
    ClC family

    4 InterPro protein domains:
     IPR014743 Cl-channel_core
     IPR000644 CBS_dom
     IPR001807 Cl-channel_volt-gated
     IPR002246 Cl_channel-4

    Graphical View of Domain Structure for InterPro Entry P51793

    ProtoNet protein and cluster: P51793

    3 Blocks protein domains:
    IPB000644 CBS domain
    IPB001807 Chloride channel signature
    IPB002246 CLC-4 chloride channel signature


    UniProtKB/Swiss-Prot: CLCN4_HUMAN, P51793
    Similarity: Belongs to the chloride channel (TC 2.A.49) family. ClC-4/CLCN4 subfamily
    Similarity: Contains 2 CBS domains


    Find genes that share domains with CLCN4           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLCN4_HUMAN, P51793
    Function: Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against
    protons

         Genatlas biochemistry entry for CLCN4:
    chloride voltage-gated channel 4,brain and heart

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005247voltage-gated chloride channel activity IEA--
    GO:0005254chloride channel activity IDA10564087
    GO:0005524ATP binding IEA--
    GO:0015297antiporter activity IEA--
         
    Find genes that share ontologies with CLCN4           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CLCN4:
     Decreased homologous recombina 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Clcn4-2):
     homeostasis/metabolism  renal/urinary system 

    Find genes that share phenotypes with CLCN4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Clcn4-2Clcn4-tm1Tjj for CLCN4

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    hsa-miR-3164 hsa-miR-548j hsa-miR-330-5p hsa-miR-24-1* hsa-miR-15a hsa-miR-134 hsa-miR-507 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidCLCN4 3' UTR sequence
    Inhib. RNA
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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
    CLCN4_HUMAN, P51793: Early endosome membrane; Multi-pass membrane protein (By similarity). Late endosome
    membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    plasma membrane3
    cytosol1
    golgi apparatus1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010008endosome membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0031901early endosome membrane IEA--
    GO:0031902late endosome membrane IEA--

    Find genes that share ontologies with CLCN4           About GenesLikeMe


    (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 CLCN4 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


    Find genes that share SuperPaths with CLCN4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CLCN4
        Cholera Infection
    Hepatic ABC Transporters
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA


    1 Reactome Pathway for CLCN4
        Stimuli-sensing channels


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CLCN4
    Interactions:

        Search GeneGlobe Interaction Network for CLCN4

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    Selected Interacting proteins for CLCN4 (P517933 ENSP000003702134) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206286Q8N1B43I2D: score=1 
    ENSG00000224455Q8N1B43I2D: score=1 
    ENSG00000225590Q8N1B43I2D: score=1 
    ENSG00000228425Q8N1B43I2D: score=1 
    ENSG00000236014Q8N1B43I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8069296
    GO:0006821chloride transport IDA10564087
    GO:0034220ion transmembrane transport TAS--
    GO:0044070regulation of anion transport TAS8069296
    GO:0055085transmembrane transport TAS--

    Find genes that share ontologies with CLCN4           About GenesLikeMe



    (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 CLCN4

    1 HMDB Compound for CLCN4    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--

    2 IUPHAR Ligands for CLCN4 (ClC-4)    About this table
    LigandTypeActionAffinityPubmed IDs
    Zn2+
    Channel blockerNone4.318658230
    Cd2+
    Channel blockerNone4.218658230

    3 Novoseek inferred chemical compound relationships for CLCN4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chloride 78.2 14 20087350 (2), 11675385 (2), 16129671 (2), 8069296 (1) (see all 9)
    hydrogen 28.5 1 16914964 (1)
    glutamate 16.4 1 16914964 (1)



    Find genes that share compounds with CLCN4           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CLCN4 gene (2 alternative transcripts): 
    NM_001256944.1  NM_001830.3  

    Unigene Cluster for CLCN4:

    Chloride channel, voltage-sensitive 4
    Hs.495674  [show with all ESTs]
    Unigene Representative Sequence: NM_001830
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380833(uc004csy.4 uc011mid.2) ENST00000380829 ENST00000454850
    ENST00000421085
    miRNA
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    hsa-miR-3164 hsa-miR-548j hsa-miR-330-5p hsa-miR-24-1* hsa-miR-15a hsa-miR-134 hsa-miR-507 hsa-miR-9
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    Additional mRNA sequence: 

    AB019432.1 AF052117.1 AF170492.1 AK225287.1 AK289564.1 AK299611.1 BC036068.1 BC130278.1 
    X77197.1 

    6 DOTS entries:

    DT.214138  DT.205149  DT.97839585  DT.101979299  DT.86854183  DT.75200160 

    Selected AceView cDNA sequences (see all 74):

    F07643 BC036068 M79019 AI864647 F08394 AW892370 AA297742 AA071195 
    AF170492 BX494810 AA071201 AU098794 AI168107 AU125175 BM676117 AW292101 
    BX116599 AI758925 AB019432 BM712774 AI375170 AA678256 BX505541 AF052117 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CLCN4    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
    SP1:                          -           -                                                                     
    SP2:                          -           -                                                                     
    SP3:                          -           -                 -     -                                             
    SP4:                    -     -           -                                                                     
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for CLCN4

    (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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    CLCN4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CLCN4 Expression
    About this image


    CLCN4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Mature B-Cells Peripheral Blood
    CLCN4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CLCN4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.495674

    UniProtKB/Swiss-Prot: CLCN4_HUMAN, P51793
    Tissue specificity: Abundant in skeletal muscle and also detectable in brain and heart

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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 and fungi.

    Orthologs for CLCN4 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Clcn4-21 , 5 chloride channel 4-21, 5 88.26(n)1
    98.53(a)1
      7 (4.23 cM)5
    127271  NM_011334.31  NP_035464.31 
     72823165 
    chicken
    (Gallus gallus)
    Aves CLCN41 chloride channel 4 81.27(n)
    97.24(a)
      428005  XM_425575.4  XP_425575.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    23(a)
    many ↔ many
    GL343207.1(1405794-1474985)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.124342 Transcribed sequence with strong similarity to protein more 78.88(n)    BX710282.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.79652 Transcribed sequence with moderate similarity to protein more 78.41(n)    57074445 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG52843 chloride channel 57(a)   72D5   --
    worm
    (Caenorhabditis elegans)
    Secernentea clh-56
    Protein CLH-5 (clh-5) mRNA, complete cds
    52(a)
    1 → many
    II(9094680-9098846) WBGene00000532
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GEF16
    Voltage-gated chloride channel localized to the go...
    30(a)
    1 → many
    X(507746-510085) YJR040W


    ENSEMBL Gene Tree for CLCN4 (if available)
    TreeFam Gene Tree for CLCN4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CLCN4 gene
    CLCN62  CLCNKB2  CLCN52  CLCN12  CLCN72  CLCN32  CLCNKA2  CLCN22  
    2 SIMAP similar genes for CLCN4 using alignment to 6 protein entries:     CLCN4_HUMAN (see all proteins):
    CLCN5    CLCN3

    Find genes that share paralogs with CLCN4           About GenesLikeMe



    (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 CLCN4 (see all 1229)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs65303721,2
    C,F--10087356(+) AGTGGG/AGAGGG 1 -- us2k1 trp39Minor allele frequency- A:0.23NA WA CSA 13
    rs1128990331,2
    C--10087366(+) GAGCTA/GTCCTG 1 -- us2k12Minor allele frequency- G:0.00CSA 2
    rs59338081,2
    C,A--10087439(+) CTCCTT/CCCACT 1 -- us2k13Minor allele frequency- C:0.00NA CSA 4
    rs1432992631,2
    C--10087486(+) GGGAGA/CAACAT 1 -- us2k10--------
    rs1916362151,2
    --10087514(+) CTGTTC/TTAAAC 1 -- us2k10--------
    rs59347751,2
    C,A--10087680(+) GAGGTT/GGCAGT 1 -- us2k13Minor allele frequency- G:0.20NA 5
    rs1484067401,2
    --10087717(+) AGCCTA/GGGAGA 1 -- us2k10--------
    rs2006609641,2
    C--10088054(+) AAAAC-/TGTT  
            
    TGTTT
    1 -- us2k10--------
    rs2011050391,2
    C--10088059(+) TGTTTA/GTTTAT 1 -- us2k10--------
    rs59338091,2
    C,F,A--10088116(+) TTGCTG/ATAAAA 1 -- us2k13Minor allele frequency- A:0.40NA WA 5

    HapMap Linkage Disequilibrium report for CLCN4 (10124985 - 10205700 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CLCN4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6795CNV Insertion18451855
    nsv519068CNV Gain19592680
    dgv2438e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): CLCN4
    Locus Specific Mutation Databases (LSDB): CLCN4

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CLCN4
    DNA2.0 Custom Variant and Variant Library Synthesis for CLCN4

    (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: 302910    OMIM disorders: --

    2 diseases for CLCN4:    
    About MalaCards
    microphthalmia with linear skin defects syndrome    ocular albinism

    1 disease from the University of Copenhagen DISEASES database for CLCN4:
    Ocular albinism

    Find genes that share disorders with CLCN4           About GenesLikeMe

    1 Novoseek inferred disease relationship for CLCN4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cystic fibrosis 19.7 1 10932070 (1)

    Genetic Association Database (GAD): CLCN4

    Export disorders for CLCN4 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)
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    PubMed articles for CLCN4 gene, integrated from 10 sources (see all 38):
    (articles sorted by number of sources associating them with CLCN4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. (PubMed id 8069296)1, 2, 3, 9 van Slegtenhorst M.A.... Ballabio A. (Hum. Mol. Genet. 1994)
    2. Identification of an acid-activated Cl- channel from human skeletal muscles. (PubMed id 10564087)1, 2, 9 Kawasaki M....Sasaki S. (Am. J. Physiol. 1999)
    3. Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease. (PubMed id 19546591)1, 9 Wu F....Thakker R.V. (Nephron Physiol 2009)
    4. Gene trapping identifies chloride channel 4 as a novel inducer of colon cancer cell migration, invasion and metastases. (PubMed id 20087350)1, 9 Ishiguro T....Boyd D.D. (Br. J. Cancer 2010)
    5. Identification and functional characterization of a voltage-gated chloride channel and its novel splice variant in taste bud cells. (PubMed id 16129671)1, 9 Huang L....Brand J.G. (J. Biol. Chem. 2005)
    6. Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5. (PubMed id 16034421)1, 9 Picollo A. and Pusch M. (Nature 2005)
    7. A new region of conservation is defined between human and mouse X chromosomes. (PubMed id 8661129)1, 9 Dinulos M.B....Disteche C.M. (Genomics 1996)
    8. Expression of CLCN voltage-gated chloride channel genes in human blood vessels. (PubMed id 10198195)1, 9 Lamb F.S....Schutte B.C. (J. Mol. Cell. Cardiol. 1999)
    9. Intragenic TaqI restriction fragment length polymorphism (RFLP) in CICN4, between the loci for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects syndrome (MLS). (PubMed id 7759088)1, 9 Schnur R.E. and Wick P.A. (Hum. Genet. 1995)
    10. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. (PubMed id 23647072)1 Veeramah K.R....Hammer M.F. (Epilepsia 2013)

    (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: 1183 HGNC: 2022 AceView: CLCN4 Ensembl:ENSG00000073464 euGenes: HUgn1183
    ECgene: CLCN4 H-InvDB: CLCN4

    (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 CLCN4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CLCN4 gene:
    Search GeneIP for patents involving CLCN4

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



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