Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



CLCN7 Gene

protein-coding   GIFtS: 66
GCID: GC16M001494

Chloride Channel, Voltage-Sensitive 7

(Previous name: chloride channel 7)
  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)
About This Section

TryGeneCards Plus

Aliases
Chloride Channel, Voltage-Sensitive 71 2     Protein Phosphatase 11
Chloride Channel 7 Alpha Subunit2 3     Regulatory Subunit 631
Chloride Channel Protein 72 3     CLC-72
CLC72 5     PPP1R632
OPTA22 5     H(+)/Cl(-) Exchange Transporter 72
OPTB42 5     Protein Phosphatase 1, Regulatory Subunit 632
Chloride Channel 71     ClC-73

External Ids:    HGNC: 20251   Entrez Gene: 11862   Ensembl: ENSG000001032497   OMIM: 6027275   UniProtKB: P517983   

Export aliases for CLCN7 gene to outside databases

Previous GC identifers: GC16M001512 GC16M001435 GC16M001421


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

TryGeneCards Plus

Entrez Gene summary for CLCN7 Gene:
The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important
roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in
this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant
osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called
autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic
disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most
common form of osteopetrosis, occurring in adolescence or adulthood. (provided by RefSeq, Jul 2008)

GeneCards Summary for CLCN7 Gene:
CLCN7 (chloride channel, voltage-sensitive 7) is a protein-coding gene. Diseases associated with CLCN7 include osteopetrosis autosomal recessive 4, and clcn7-related osteopetrosis. GO annotations related to this gene include antiporter activity and chloride channel activity. An important paralog of this gene is CLCN4.

UniProtKB/Swiss-Prot: CLCN7_HUMAN, P51798
Function: Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as
antiporter and contributes to the acidification of the lysosome lumen

Gene Wiki entry for CLCN7 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000016.10  NC_018927.2  NT_010393.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the CLCN7 gene promoter:
         AML1a   Pax-5   SREBP-1c   c-Ets-1   SREBP-1b   AREB6   SREBP-1a   POU2F1   POU2F1a   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCLCN7 promoter sequence
   Search Chromatin IP Primers for CLCN7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CLCN7


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

Entrez Gene cytogenetic band: 16p13   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13

CLCN7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLCN7 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M001494:  view genomic region     (about GC identifiers)

Start:
1,494,935 bp from pter      End:
1,525,581 bp from pter
Size:
30,647 bases      Orientation:
minus 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, 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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: CLCN7_HUMAN, P51798 (See protein sequence)
Recommended Name: H(+)/Cl(-) exchange transporter 7  
Size: 805 amino acids; 88679 Da
Subunit: Chloride channel 7 are heteromers of alpha (CLCN7) and beta (OSTM1) subunits
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: A6NEJ7 A8K5T9 A8K7X1 B3KPN3 E9PDB9 Q9NYX5
Alternative splicing: 2 isoforms:  P51798-1   P51798-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CLCN7: NX_P51798

Explore proteomics data for CLCN7 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys88, Lys274
  • Modification sites at PhosphoSitePlus

  • See CLCN7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001107803.1  NP_001278.1  

    ENSEMBL proteins: 
     ENSP00000372193   ENSP00000262318   ENSP00000461009   ENSP00000454845   ENSP00000410907  
    Reactome Protein details: P51798

    CLCN7 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for CLCN7
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CLCN7
    GenScript Custom Purified and Recombinant Proteins Services for CLCN7
    Novus Biologicals CLCN7 Protein
    Novus Biologicals CLCN7 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CLCN7

    CLCN7 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for CLCN7
    OriGene Custom Antibody Services for CLCN7
    Novus Biologicals CLCN7 Antibodies
    Abcam antibodies for CLCN7
    Cloud-Clone Corp. Antibodies for CLCN7
    Search ThermoFisher Antibodies for CLCN7
    LSBio Antibodies in human, mouse, rat for CLCN7

    CLCN7 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CLCN7
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CLCN7
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CLCN7
    Cloud-Clone Corp. CLIAs for CLCN7


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    CLCN: Ion channels / Chloride channels : Voltage-sensitive
    PPP1R: Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits

    IUPHAR Guide to PHARMACOLOGY protein family classification: ClC-7
    ClC family

    4 InterPro protein domains:
     IPR014743 Cl-channel_core
     IPR000644 CBS_dom
     IPR002249 Cl_channel-7
     IPR001807 Cl-channel_volt-gated

    Graphical View of Domain Structure for InterPro Entry P51798

    ProtoNet protein and cluster: P51798

    3 Blocks protein domains:
    IPB000644 CBS domain
    IPB001807 Chloride channel signature
    IPB002249 CLC-7 chloride channel signature


    UniProtKB/Swiss-Prot: CLCN7_HUMAN, P51798
    Similarity: Belongs to the chloride channel (TC 2.A.49) family. ClC-7/CLCN7 subfamily
    Similarity: Contains 2 CBS domains


    CLCN7 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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLCN7_HUMAN, P51798
    Function: Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as
    antiporter and contributes to the acidification of the lysosome lumen

         Genatlas biochemistry entry for CLCN7:
    chloride voltage-gated channel 7,89kDa,widely expressed

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005247voltage-gated chloride channel activity IEA--
    GO:0005254chloride channel activity TAS8543009
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
         
    CLCN7 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CLCN7:
     Decreased G3BP1 protein expres 

         15 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Clcn7):
     behavior/neurological  cellular  craniofacial  growth/size/body  hematopoietic system 
     immune system  integument  limbs/digits/tail  mortality/aging  nervous system 
     pigmentation  renal/urinary system  respiratory system  skeleton  vision/eye 

    CLCN7 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Clcn7tm1Tjj for CLCN7

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CLCN7
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CLCN7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CLCN7
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CLCN7

    miRNA
    Products:
        
    miRTarBase miRNAs that target CLCN7:
    hsa-mir-125a-5p (MIRT045747), hsa-mir-769-3p (MIRT039129)

    Block miRNA regulation of human, mouse, rat CLCN7 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate CLCN7
    SwitchGear 3'UTR luciferase reporter plasmidCLCN7 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CLCN7
    Predesigned siRNA for gene silencing in human, mouse, rat CLCN7

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CLCN7

    Clone
    Products:
         
    OriGene clones in human, mouse for CLCN7 (see all 14)
    OriGene ORF clones in mouse, rat for CLCN7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CLCN7 (NM_001287)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CLCN7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLCN7

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CLCN7
    Browse ESI BIO Cell Lines and PureStem Progenitors for CLCN7 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLCN7


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    CLCN7_HUMAN, P51798: Lysosome membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    nucleus3
    plasma membrane3
    endoplasmic reticulum1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0031410cytoplasmic vesicle IEA--

    CLCN7 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).
    About This Section

    TryGeneCards Plus

    SuperPaths for CLCN7 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 CLCN7
        Cholera Infection
    Hepatic ABC Transporters
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA

    1 Reactome Pathway for CLCN7
        Stimuli-sensing channels



    CLCN7 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including CLCN7: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CLCN7

    5 Interacting proteins for CLCN7 (P517982, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OSTM1Q86WC43I2D: score=2 
    PACS1Q6VY073I2D: score=2 
    CREB3O438893I2D: score=1 
    LAMP2P134732MINT-8188417
    --Q8BGT02MINT-8188417
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8543009
    GO:0006821chloride transport ----
    GO:0009268response to pH IEA--
    GO:0034220ion transmembrane transport TAS--
    GO:0055085transmembrane transport TAS--

    CLCN7 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)
    About This Section

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

    Browse Tocris compounds for CLCN7

    1 HMDB Compound for CLCN7    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--

    3 IUPHAR Ligands for CLCN7 (ClC-7)    About this table
    LigandTypeActionAffinityPubmed IDs
    DIDS
    Channel blockerNone4.420830208
    NS5818
    Channel blockerNone4.320830208
    NPPB
    Channel blockerNone3.820830208

    3 Novoseek inferred chemical compound relationships for CLCN7 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chloride 70.9 18 12929941 (3), 15177004 (1), 17164308 (1), 15633192 (1) (see all 11)
    valine 36.4 2 16234969 (1), 16120485 (1)
    methionine 24.2 1 16120485 (1)



    CLCN7 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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for CLCN7 gene (2 alternative transcripts): 
    NM_001114331.2  NM_001287.5  

    Unigene Cluster for CLCN7:

    Chloride channel, voltage-sensitive 7
    Hs.459649  [show with all ESTs]
    Unigene Representative Sequence: AK122944
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000563642(uc002clu.2) ENST00000382745(uc002clv.2) ENST00000565092
    ENST00000262318 ENST00000567836 ENST00000567789 ENST00000563822 ENST00000569851
    ENST00000564968 ENST00000561665 ENST00000567139 ENST00000564568 ENST00000566812
    ENST00000448525(uc002clw.2)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CLCN7 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate CLCN7
    SwitchGear 3'UTR luciferase reporter plasmidCLCN7 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CLCN7
    Predesigned siRNA for gene silencing in human, mouse, rat CLCN7
    Clone
    Products:
         
    OriGene clones in human, mouse for CLCN7 (see all 14)
    OriGene ORF clones in mouse, rat for CLCN7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CLCN7 (NM_001287)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CLCN7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLCN7
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CLCN7
    OriGene qSTAR qPCR primer pairs in human, mouse for CLCN7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CLCN7
      QuantiTect SYBR Green Assays in human, mouse, rat CLCN7
      QuantiFast Probe-based Assays in human, mouse, rat CLCN7

    Additional mRNA sequence: 

    AF224741.1 AK056551.1 AK122944.1 AK130196.1 AK291404.1 AK292136.1 AK304796.1 AK315978.1 
    BC004946.1 BC006158.1 BC012737.2 BC015235.1 BC109196.1 U88844.1 Z67743.1 

    Selected DOTS entries (see all 25):

    DT.442877  DT.99989165  DT.91773591  DT.120656648  DT.100679161  DT.100820094  DT.91773590  DT.95261026 
    DT.86858970  DT.100030632  DT.97807468  DT.100705311  DT.100820095  DT.100820091  DT.100820092  DT.100820093 
    DT.102827919  DT.120656653  DT.120656683  DT.120656690  DT.120656691  DT.120656705  DT.91773588  DT.95261041 

    Selected AceView cDNA sequences (see all 52):

    CD611171 BC012737 CD611168 NM_001287 CR604762 CR613527 AW296013 BC006158 
    BF842485 AK056551 AK096963 AK128285 BM150421 Z67743 U88844 CD611172 
    BC004946 AK130196 BI551366 BC015235 AK122944 BI670360 BE247077 AF224741 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CLCN7 (see all 15)    About this scheme

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

    ExUns: 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b · 21c ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25a · 25b · 25c ^ 26 ^ 27 ^ 28 ^ 29a · 29b · 29c · 29d
    SP1:              -           -     -           -     -           -                 -           -                                             
    SP2:              -           -     -           -     -           -                 -           -                                             
    SP3:                          -     -                             -                 -           -                                             
    SP4:                                                                                -           -                                             
    SP5:                                                                                            -                                             


    ECgene alternative splicing isoforms for CLCN7

    (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)
    About This Section

    TryGeneCards Plus

    CLCN7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGACCCCGG
    CLCN7 Expression
    About this image


    CLCN7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    CLCN7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CLCN7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.459649

    UniProtKB/Swiss-Prot: CLCN7_HUMAN, P51798
    Tissue specificity: Brain, testis, muscle and kidney

        Pathway & Disease-focused RT2 Profiler PCR Array including CLCN7: 
              Neuronal Ion Channels in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CLCN7
    OriGene qSTAR qPCR primer pairs in human, mouse for CLCN7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CLCN7
    QuantiTect SYBR Green Assays in human, mouse, rat CLCN7
    QuantiFast Probe-based Assays in human, mouse, rat CLCN7
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLCN7

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CLCN7 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Clcn71 , 5 chloride channel 71, 5 87.34(n)1
    96.64(a)1
      17 (12.53 cM)5
    263731  NM_011930.31  NP_036060.11 
     251333915 
    chicken
    (Gallus gallus)
    Aves CLCN71 chloride channel, voltage-sensitive 7 80.97(n)
    87.83(a)
      416656  NM_001030644.2  NP_001025815.1 
    lizard
    (Anolis carolinensis)
    Reptilia CLCN76
    chloride channel, voltage-sensitive 7
    85(a)
    1 ↔ 1
    GL343691.1(144349-172299)
    African clawed frog
    (Xenopus laevis)
    Amphibia CB945230.12   -- 78.85(n)    CB945230.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BM958349.12   -- 76.44(n)    BM958349.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG85943
    ClC-b1
    chloride channel3
    Chloride channel-b1
    50(a)3
    55.54(n)1
    51.52(a)1
      49B53
    363811  NM_136954.31  NP_610798.11 
    worm
    (Caenorhabditis elegans)
    Secernentea clh-61 , 3 chloride channel3
    clh-61
    48(a)3
    50.7(n)1
    50.34(a)1
      V(12063099-12065964)3
    1796551  NM_073621.31  NP_506022.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GEF16
    Voltage-gated chloride channel localized to the go...
    22(a)
    1 → many
    X(507746-510085) YJR040W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CLC-C1 CLC-C 45.94(n)
    37.24(a)
      835052  NM_124367.3  NP_199800.1 


    ENSEMBL Gene Tree for CLCN7 (if available)
    TreeFam Gene Tree for CLCN7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for CLCN7 gene
    CLCN42  CLCN62  CLCNKB2  CLCN52  CLCN12  CLCN32  CLCNKA2  CLCN22  
    2 SIMAP similar genes for CLCN7 using alignment to 7 protein entries:     CLCN7_HUMAN (see all proteins):
    CLCN1    CLCN6

    CLCN7 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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for CLCN7 (see all 1251)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0209994
    Osteopetrosis, autosomal recessive 4 (OPTB4)4--see VAR_0209992 P R mis40--------
    VAR_0646404
    Osteopetrosis, autosomal dominant 2 (OPTA2)4--see VAR_0646402 F L mis40--------
    VAR_0374274
    Osteopetrosis, autosomal recessive 4 (OPTB4)4--see VAR_0374272 I F mis40--------
    VAR_0646434
    Osteopetrosis, autosomal recessive 4 (OPTB4)4--see VAR_0646432 R Q mis40--------
    VAR_0210074
    Osteopetrosis, autosomal recessive 4 (OPTB4)4--see VAR_0210072 S F mis40--------
    VAR_0646464
    Osteopetrosis, autosomal dominant 2 (OPTA2)4--see VAR_0646462 F L mis40--------
    VAR_0646474
    Osteopetrosis, autosomal recessive 4 (OPTB4)4--see VAR_0646472 R W mis40--------
    VAR_0210054
    Osteopetrosis, autosomal recessive 4 (OPTB4)4--see VAR_0210052 L P mis40--------
    VAR_0646484
    Osteopetrosis, autosomal recessive 4 (OPTB4)4--see VAR_0646482 R P mis40--------
    VAR_0209984
    Osteopetrosis, autosomal recessive 4 (OPTB4)4--see VAR_0209982 G R mis40--------

    HapMap Linkage Disequilibrium report for CLCN7 (1494935 - 1525581 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CLCN7 (see all 36):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2740712CNV Deletion23290073
    esv1712114CNV Deletion17803354
    esv2750343CNV Deletion23290073
    esv2750344CNV Deletion23290073
    esv2676983CNV Deletion23128226
    esv2743238CNV Deletion23290073
    esv2422427CNV Duplication17116639
    esv1010408CNV Insertion20482838
    nsv904954CNV Loss21882294
    nsv904950CNV Loss21882294

    Human Gene Mutation Database (HGMD): CLCN7
    Locus Specific Mutation Databases (LSDB): CLCN7

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CLCN7
    DNA2.0 Custom Variant and Variant Library Synthesis for CLCN7

    (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.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 602727   
    OMIM disorders: 611490  166600  
    UniProtKB/Swiss-Prot: CLCN7_HUMAN, P51798
  • Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]: A rare genetic disease characterized by
    abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe
    autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form
    occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with
    macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and
    hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600]: A rare genetic disease characterized by
    abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe
    autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form
    occurring in adolescence or adulthood. OPTA2 is the most common form of osteopetrosis, occurring in adolescence
    or adulthood. It is characterized by sclerosis, predominantly involving the spine, the pelvis and the skull base.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20 diseases for CLCN7:    
    About MalaCards
    osteopetrosis autosomal recessive 4    clcn7-related osteopetrosis    osteopetrosis autosomal dominant type 2    osteopetrosis autosomal recessive 1
    osteopetrosis autosomal recessive 6    osteopetrosis    bartter disease    dent's disease
    nephrocalcinosis    lysosomal storage disease    nephrolithiasis    optic atrophy
    osteoporosis    cholera    pneumonia    multiple myeloma
    myeloma    hepatitis    malaria    neuronitis

    1 disease from the University of Copenhagen DISEASES database for CLCN7:
    Osteopetrosis

    CLCN7 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for CLCN7 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    osteopetrosis, autosomal dominant, type ii 98.3 7 16368748 (1), 12929941 (1), 15016726 (1), 19288050 (1) (see all 5)
    osteopetrosis 93.1 20 14564431 (3), 15706348 (2), 16368748 (1), 15177004 (1) (see all 12)
    osteopetrosis, autosomal recessive 89.5 1 12522560 (1)
    bone diseases 61.6 2 17164308 (1), 16234969 (1)
    neurodegeneration 26.9 1 15706348 (1)

    GeneTests: CLCN7
    GeneReviews: CLCN7
    Genetic Association Database (GAD): CLCN7
    Human Genome Epidemiology (HuGE) Navigator: CLCN7 (8 documents)

    Export disorders for CLCN7 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

    TryGeneCards Plus

    PubMed articles for CLCN7 gene, integrated from 10 sources (see all 59):
    (articles sorted by number of sources associating them with CLCN7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. (PubMed id 14584882)1, 2, 4 Frattini A.... Villa A. (J. Bone Miner. Res. 2003)
    2. 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)
    3. CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men. (PubMed id 18755304)1, 4, 9 Chu K....Econs M.J. (Bone 2008)
    4. Polymorphisms of the CLCN7 gene are associated with BMD in women. (PubMed id 16234969)1, 4, 9 Pettersson U....Ralston S.H. (J. Bone Miner. Res. 2005)
    5. Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II. (PubMed id 16368748)1, 4, 9 Kornak U....de Vernejoul M.C. (J. Clin. Endocrinol. Metab. 2006)
    6. Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. (PubMed id 11741829)1, 2, 9 Cleiren E.... Van Hul W. (Hum. Mol. Genet. 2001)
    7. Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations. (PubMed id 19953639)1, 2, 9 Pangrazio A.... Sobacchi C. (Hum. Mutat. 2010)
    8. ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity. (PubMed id 21527911)1, 2 Leisle L.... Stauber T. (EMBO J. 2011)
    9. The -9247 T/C polymorphism in the SOST upstream regulatory region that potentially affects C/EBPalpha and FOXA1 binding is associated with osteoporosis. (PubMed id 19371798)1, 4 Huang Q.Y....Kung A.W. (Bone 2009)
    10. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 1186 HGNC: 2025 AceView: CLCN7 Ensembl:ENSG00000103249 euGenes: HUgn1186
    ECgene: CLCN7 H-InvDB: CLCN7

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for CLCN7 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CLCN7[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for CLCN7 gene:
    Search GeneIP for patents involving CLCN7

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for CLCN7   OriGene RNAi products in human, mouse, rat for CLCN7  
     OriGene qPCR primer pairs and template standards for CLCN7   OriGene Protein Over-expression Lysate for CLCN7  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for CLCN7  
     OriGene qSTAR qPCR primer pairs in human, mouse for CLCN7   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for CLCN7   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CLCN7   OriGene Custom Protein Services for CLCN7  

     
     
     Block miRNA regulation of human, mouse, rat CLCN7 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CLCN7
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CLCN7 Predesigned siRNA for gene silencing in human, mouse, rat CLCN7
     QuantiFast Probe-based Assays in human, mouse, rat CLCN7 QuantiTect SYBR Green Assays in human, mouse, rat CLCN7
     PCR Arrays including human, mouse, rat CLCN7 Search Chromatin IP Primers for CLCN7
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CLCN7  GeneGlobe Interaction Network for CLCN7
     Regulatory tfbs in CLCN7 promoter
     GenScript Custom Purified and Recombinant Proteins Services for CLCN7 GenScript cDNA clones with any tag delivered in your preferred vector for CLCN7
     GenScript Custom Assay Services for CLCN7 GenScript Custom overexpressing Cell Line Services for CLCN7
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for CLCN7
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     CLCN7 antibodies
     CLCN7 proteins
     CLCN7 lysates
     Antibodies for CLCN7
     See all of Abcam's Antibodies, Kits and Proteins for CLCN7
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for CLCN7
     Antibodies for CLCN7
     ELISAs for CLCN7
     CLIAs for CLCN7



     Browse ESI BIO Cell Lines and PureStem Progenitors for CLCN7
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLCN7
     SwitchGear 3'UTR luciferase reporter plasmids for CLCN7
     SwitchGear Promoter luciferase reporter plasmids for CLCN7
     Search ThermoFisher Antibodies for CLCN7
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CLCN7
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CLCN7
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CLCN7
     LSBio Antibodies in human, mouse, rat for CLCN7
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CLCN7 gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4