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CLCN6 Gene

protein-coding   GIFtS: 65
GCID: GC01P011866

Chloride Channel, Voltage-Sensitive 6

(Previous name: chloride channel 6)
  Search for CLCN6
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 61 2     ClC-63
Chloride Channel 61     KIAA00463
CLC-62     Chloride Channel Protein 63
Chloride Transport Protein 62     

External Ids:    HGNC: 20241   Entrez Gene: 11852   Ensembl: ENSG000000110217   OMIM: 6027265   UniProtKB: P517973   

Export aliases for CLCN6 gene to outside databases

Previous GC identifers: GC01P011939 GC01P011711 GC01P011475 GC01P011575 GC01P011800 GC01P011021


(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 CLCN6 Gene:
This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can
function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and
functions as a chloride/proton antiporter. Alternate splicing results in both coding and non-coding variants.
Additional alternately spliced variants have been described but their full-length structure is unknown. (provided
by RefSeq, Mar 2012)

GeneCards Summary for CLCN6 Gene:
CLCN6 (chloride channel, voltage-sensitive 6) is a protein-coding gene. GO annotations related to this gene include antiporter activity and voltage-gated chloride channel activity. An important paralog of this gene is CLCN4.

UniProtKB/Swiss-Prot: CLCN6_HUMAN, P51797
Function: Chloride transport protein, initially identified as voltage-gated chloride channel. The presence of the
conserved gating glutamate residues suggests that is functions as antiporter

Gene Wiki entry for CLCN6 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_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the CLCN6 gene promoter:
         p53   AML1a   MyoD   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCLCN6 promoter sequence
   Search Chromatin IP Primers for CLCN6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CLCN6


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

Entrez Gene cytogenetic band: 1p36   Ensembl cytogenetic band:  1p36.22   HGNC cytogenetic band: 1p36

CLCN6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLCN6 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P011866:  view genomic region     (about GC identifiers)

Start:
11,866,207 bp from pter      End:
11,903,201 bp from pter
Size:
36,995 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: CLCN6_HUMAN, P51797 (See protein sequence)
Recommended Name: Chloride transport protein 6  
Size: 869 amino acids; 97289 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 (By similarity)
Secondary accessions: A8K1T4 B4DGT7 F8W9R3 O60818 O60819 O60820 O60821 P78520 P78521 Q17R81
Q5SNW2 Q5SNW3 Q5SNX1 Q5SNX2 Q5SNX3 Q99427 Q99428 Q99429
Alternative splicing: 6 isoforms:  P51797-1   P51797-2   P51797-3   P51797-4   P51797-5   P51797-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CLCN6: NX_P51797

Explore proteomics data for CLCN6 at MOPED

Post-translational modifications: 

  • N-glycosylated on several asparagine residues1
  • Ubiquitination2 at Lys224
  • Glycosylation2 at Asn410, Asn422, Asn432
  • Modification sites at PhosphoSitePlus

  • See CLCN6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001243888.1  NP_001277.1  

    ENSEMBL proteins: 
     ENSP00000234488   ENSP00000365680   ENSP00000365679   ENSP00000365670   ENSP00000308367  
    Reactome Protein details: P51797

    CLCN6 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for CLCN6

     
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    Search eBioscience for ELISAs for CLCN6 


    (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-6
    ClC family

    4 InterPro protein domains:
     IPR014743 Cl-channel_core
     IPR000644 CBS_dom
     IPR002248 Cl_channel-6
     IPR001807 Cl-channel_volt-gated

    Graphical View of Domain Structure for InterPro Entry P51797

    ProtoNet protein and cluster: P51797

    3 Blocks protein domains:
    IPB000644 CBS domain
    IPB001807 Chloride channel signature
    IPB002248 CLC-6 chloride channel signature


    UniProtKB/Swiss-Prot: CLCN6_HUMAN, P51797
    Similarity: Belongs to the chloride channel (TC 2.A.49) family. ClC-6/CLCN6 subfamily
    Similarity: Contains 2 CBS domains


    Find genes that share domains with CLCN6           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: CLCN6_HUMAN, P51797
    Function: Chloride transport protein, initially identified as voltage-gated chloride channel. The presence of the
    conserved gating glutamate residues suggests that is functions as antiporter

         Genatlas biochemistry entry for CLCN6:
    chloride voltage-gated channel 6,97kDa,widely expressed

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005247voltage-gated chloride channel activity NAS8543009
    GO:0005524ATP binding IEA--
    GO:0015297antiporter activity IEA--
    GO:0030554adenyl nucleotide binding ----
         
    Find genes that share ontologies with CLCN6           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CLCN6:
     Increased circadian rhythm amp 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Clcn6):
     behavior/neurological  cellular  integument  nervous system 

    Find genes that share phenotypes with CLCN6           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Clcn6tm1Tjj for CLCN6

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    hsa-miR-607 hsa-miR-875-3p hsa-miR-520d-5p hsa-miR-148b hsa-miR-330-5p hsa-miR-128 hsa-miR-301a hsa-miR-548s
    SwitchGear 3'UTR luciferase reporter plasmidCLCN6 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
    CLCN6_HUMAN, P51797: Endosome membrane; Multi-pass membrane protein. Note=Detected in detergent-resistant lipid
    rafts
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    plasma membrane3

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane IDA17897319
    GO:0010008endosome membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane NAS8543009

    Find genes that share ontologies with CLCN6           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 CLCN6 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 CLCN6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CLCN6
        Cholera Infection
    Hepatic ABC Transporters
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA

    1 Reactome Pathway for CLCN6
        Stimuli-sensing channels


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CLCN6
    Interactions:

        Search GeneGlobe Interaction Network for CLCN6

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for CLCN6 (ENSP000002344884) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ASNA1ENSP000003498874STRING: ENSP00000349887
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006821chloride transport NAS8543009
    GO:0006884cell volume homeostasis NAS8543009
    GO:0007165signal transduction NAS8543009
    GO:0009612response to mechanical stimulus IEA--
    GO:0034220ion transmembrane transport TAS--

    Find genes that share ontologies with CLCN6           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 CLCN6

    1 HMDB Compound for CLCN6    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--

    1 IUPHAR Ligand for CLCN6 (ClC-6)    About this table
    LigandTypeActionAffinityPubmed IDs
    DIDS
    Channel blockerNone3--

    1 Novoseek inferred chemical compound relationship for CLCN6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chloride 65.2 6 9480924 (2), 9224655 (2), 14761608 (1)

    2 PharmGKB related drug/compound annotations for CLCN6 gene    About this table
    Drug/compound PharmGKB Annotation
    antipsychoticsCA  
    methotrexateCA  



    Find genes that share compounds with CLCN6           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 CLCN6 gene (5 alternative transcripts): 
    NM_001256959.1  NM_001286.3  NM_021735.2  NM_021736.2  NM_021737.2  

    Unigene Cluster for CLCN6:

    Chloride channel, voltage-sensitive 6
    Hs.193043  [show with all ESTs]
    Unigene Representative Sequence: NM_001286
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000346436(uc001ate.4 uc010oat.2 uc010oau.2) ENST00000376497
    ENST00000376496 ENST00000376490 ENST00000376491 ENST00000376492 ENST00000494028
    ENST00000376487 ENST00000312413(uc009vne.1 uc009vnf.1 uc009vng.1 uc009vnh.1)

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    hsa-miR-607 hsa-miR-875-3p hsa-miR-520d-5p hsa-miR-148b hsa-miR-330-5p hsa-miR-128 hsa-miR-301a hsa-miR-548s
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    Additional mRNA sequence: 

    AK289999.1 AK294764.1 AK307098.1 BC050457.1 BC117420.1 BC117424.1 BC143844.1 D28475.2 
    NR_046428.1 X83378.1 X96391.1 X99473.1 X99474.1 X99475.1 

    14 DOTS entries:

    DT.453278  DT.100773866  DT.91762463  DT.75151031  DT.92068841  DT.100785174  DT.95374433  DT.121440298 
    DT.121440367  DT.91734195  DT.121440328  DT.40294011  DT.91797040  DT.99974858 

    Selected AceView cDNA sequences (see all 163):

    CN483515 BM557724 BQ012884 CA773433 AI886848 BI467262 AW190376 AL707784 
    BE502239 BX955352 AA321539 AI571357 BM726161 BX642754 X99473 CA313082 
    BQ716147 AA338838 CD514270 H87127 F03382 AI656222 AW172703 BQ776507 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CLCN6    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^
    SP1:              -                       -           -                 -                                         -                                             
    SP2:                                                  -                                                                                                         
    SP3:              -                       -                                                                                                                     
    SP4:                                      -           -                                                                                                         
    SP5:                                                                                                                          -     -                           

    ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for CLCN6

    (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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    CLCN6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAGAATAAA
    CLCN6 Expression
    About this image


    CLCN6 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
     
     Adipose (Muscoskeletal System)
             Mesenchymal Stem Cells Subcutaneous White Adipose
     
     Mesenchymal Stem Cells
             Mesenchymal Stem Cells Subcutaneous White Adipose
    CLCN6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CLCN6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.193043

    UniProtKB/Swiss-Prot: CLCN6_HUMAN, P51797
    Tissue specificity: Testis, ovary, small intestine, brain and skeletal muscle. Low level expression in aortic and
    coronary vascular smooth muscle cells, and aortic endothelial cells. Isoform 3 is only detected in kidney

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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 eukaryotes.

    Orthologs for CLCN6 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Clcn61 , 5 chloride channel 61, 5 90.22(n)1
    96.89(a)1
      4 (78.67 cM)5
    263721  NM_011929.21  NP_036059.11 
     1480042595 
    chicken
    (Gallus gallus)
    Aves CLCN61 chloride channel, voltage-sensitive 6 81.39(n)
    93.43(a)
      419488  XM_417644.3  XP_417644.2 
    lizard
    (Anolis carolinensis)
    Reptilia CLCN66
    chloride channel, voltage-sensitive 6
    87(a)
    1 ↔ 1
    GL344836.1(1378-18441)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia clcn61 chloride channel, voltage-sensitive 6 76.07(n)
    87.92(a)
      100496474  XM_002937529.2  XP_002937575.2 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb95f012 Transcribed sequence with weak similarity to protein more 73.47(n)    57044375 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GEF16
    Voltage-gated chloride channel localized to the go...
    21(a)
    1 → many
    X(507746-510085) YJR040W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CLC-D1 CLC-D 45.75(n)
    36.96(a)
      832693  NM_122525.2  NP_197996.1 


    ENSEMBL Gene Tree for CLCN6 (if available)
    TreeFam Gene Tree for CLCN6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CLCN6 gene
    CLCN42  CLCNKB2  CLCN52  CLCN12  CLCN72  CLCN32  CLCNKA2  CLCN22  
    1 SIMAP similar gene for CLCN6 using alignment to 3 protein entries:     CLCN6_HUMAN (see all proteins):
    CLCN7

    Find genes that share paralogs with CLCN6           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 CLCN6 (see all 1229)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs358499261,2
    C--11023795(+) TCATC-/TTTTTT 3 -- int10--------
    rs574417621,2
    C--11868780(+) GGACC-/CTGGGA 3 -- int10--------
    rs589417651,2
    C--11870837(+) AAAAG-/AAGCGTGG 3 -- int10--------
    rs709872041,2
    C--11872768(+) TGTGT-/GT/TA 
            
    ATTGT
    3 -- int11NA 2
    rs357535481,2
    C--11875090(+) GTCTC-/AAAAAA 3 -- int11Minor allele frequency- A:0.50NA 2
    rs561986881,2
    C--11875105(+) AAAAA-/A/AAA 
            
    GTGGA
    3 -- int11NA 2
    rs558752331,2
    C--11876903(+) TTCCC-/TTTTTTT 3 -- int10--------
    rs709872051,2
    C--11882135(+) TTTTTT/-GTTTT 3 -- int12Minor allele frequency- -:0.25NA 4
    rs37535871,2
    C,F--11882440(-) AGGCAA/TTCCTT 3 -- us2k17Minor allele frequency- T:0.10NA EA 728
    rs37535861,2
    C--11882534(-) CTCCCA/GAAGTG 3 -- us2k13Minor allele frequency- G:0.06NA NS 650

    HapMap Linkage Disequilibrium report for CLCN6 (11866207 - 11903201 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CLCN6:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2280942CNV Deletion18987734
    nsv527521CNV Loss19592680
    nsv871919CNV Loss21882294
    nsv871014CNV Gain21882294

    Human Gene Mutation Database (HGMD): CLCN6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CLCN6
    DNA2.0 Custom Variant and Variant Library Synthesis for CLCN6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602726    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for CLCN6:
    Neuronal ceroid lipofuscinosis

    Find genes that share disorders with CLCN6           About GenesLikeMe

    Genetic Association Database (GAD): CLCN6
    Human Genome Epidemiology (HuGE) Navigator: CLCN6 (9 documents)

    Export disorders for CLCN6 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 CLCN6 gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with CLCN6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family. (PubMed id 8543009)1, 2, 3 Brandt S. and Jentsch T.J. (FEBS Lett. 1995)
    2. Alternative splicing of ClC-6 (a member of the ClC chloride-channel family) transcripts generates three truncated isoforms one of which, ClC-6c, is kidney-specific. (PubMed id 9224655)1, 2, 9 Eggermont J.... Nilius B. (Biochem. J. 1997)
    3. Expression of CLCN voltage-gated chloride channel genes in human blood vessels. (PubMed id 10198195)1, 2, 9 Lamb F.S....Schutte B.C. (J. Mol. Cell. Cardiol. 1999)
    4. Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster. (PubMed id 21273288)1, 4 Del Greco M F....Pramstaller P.P. (Hum. Mol. Genet. 2011)
    5. Identification of type 2 diabetes-associated combination of SNPs using support vector machine. (PubMed id 20416077)1, 4 Ban H.J....Park K.J. (BMC Genet. 2010)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. Genetic architecture of ambulatory blood pressure in the general population: insights from cardiovascular gene-centric array. (PubMed id 21060006)1, 4 Tomaszewski M....Samani N.J. (Hypertension 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    9. Genome-wide association study identifies eight loci associated with blood pressure. (PubMed id 19430483)1, 4 Newton-Cheh C....Munroe P.B. (Nat. Genet. 2009)
    10. Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy. (PubMed id 19898482)1, 4 Ross C.J....Hayden M.R. (Nat. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 1185 HGNC: 2024 AceView: CLCN6 Ensembl:ENSG00000011021 euGenes: HUgn1185
    ECgene: CLCN6 H-InvDB: CLCN6

    (According to HUGE)
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    HUGE: KIAA0046

    (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 CLCN6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CLCN6 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CLCN6 gene:
    Search GeneIP for patents involving CLCN6

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



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