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GJB6 Gene

protein-coding   GIFtS: 63
GCID: GC13M020796

Gap Junction Protein, Beta 6, 30kDa

(Previous names: ectodermal dysplasia 2, hidrotic (Clouston syndrome), gap...)
(Previous symbols: DFNA3, ED2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Gap Junction Protein, Beta 6, 30kDa1 2     ECTD22 5
DFNA31 2     HED22 5
ED21 2     Gap Junction Protein, Beta 61
Ectodermal Dysplasia 2, Hidrotic (Clouston Syndrome)1 2     EDH2
Gap Junction Protein, Beta 6 (Connexin 30)1 2     HED2
Connexin 301 2     connexin-302
CX302 5     Gap Junction Beta-6 Protein2
DFNA3B2 5     Connexin-303
DFNB1B2 5     Cx303

External Ids:    HGNC: 42881   Entrez Gene: 108042   Ensembl: ENSG000001217427   OMIM: 6044185   UniProtKB: O954523   

Export aliases for GJB6 gene to outside databases

Previous GC identifers: GC13M018776 GC13M014776 GC13M019726 GC13M018594 GC13M019694 GC13M001601


(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 GJB6 Gene:
Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed
by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four
transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane
segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is
determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on
their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta)
of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been
found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. (provided by RefSeq, Jul
2008)

GeneCards Summary for GJB6 Gene:
GJB6 (gap junction protein, beta 6, 30kDa) is a protein-coding gene. Diseases associated with GJB6 include deafness, digenic gjb2/gjb6, and deafness, autosomal dominant 3b. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot: CXB6_HUMAN, O95452
Function: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons,
through which materials of low MW diffuse from one cell to a neighboring cell

summary for GJB6 Gene:
Gap channels (also known as gap junctions) are specalized cell-cell contacts between almost all eukaryotic
cells that provide direct intracellular communication. Generally, gap channels allow the passive diffusion
of molecules up to 1 kDa which includes nutrients, small metabolites (e.g. glucose), ions (K+, Ca2+) and
second messengers (IP3, cAMP and cGMP). Gap channels allow electrical and biochemical coupling between cells
and in excitable tissues, such as neurons and the heart, enables the generation of synchronized and rapid
responses. Structurally, gap channels are composed of two hemichannels called 'connexons', which themselves
are formed from six connexin molecules. Homo- and heteromeric combinations are seen, which exhibit distinct
permeability, selectivity and functional properties. Pannexins are related to connexins and can also form
gap junctions. However, their expression is limited to the brain. Furthermore, in nonchordate animals a
family of proteins called innexins form these channels. Gap channels are regulated through
post-translational modifications of the C'-terminal cytoplasmic tail and phosphorylation modulates assembly
and their physiological properties. They are continuously synthesized and degraded, allowing tissues to
rapidly adapt to changing environmental conditions. Connexins play a key role in many physiological
processes including cardiac and smooth muscle contraction, regulation of neuronal excitability, epithelial
electrolyte transport and keratinocyte differentiation. Mutations in connexin genes are associated with
human diseases including sensorineural deafness, a variety of skin disorders, peripheral neuropathy and
cardiovascular disease.

Gene Wiki entry for GJB6 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000013.11  NC_018924.2  NT_024524.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the GJB6 gene promoter:
         CRE-BP1   AML1a   ATF-2   Sox9   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGJB6 promoter sequence
   Search Chromatin IP Primers for GJB6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GJB6


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

Entrez Gene cytogenetic band: 13q12   Ensembl cytogenetic band:  13q12.11   HGNC cytogenetic band: 13q12

GJB6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GJB6 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M020796:  view genomic region     (about GC identifiers)

Start:
20,796,101 bp from pter      End:
20,806,534 bp from pter
Size:
10,434 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.)
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UniProtKB/Swiss-Prot: CXB6_HUMAN, O95452 (See protein sequence)
Recommended Name: Gap junction beta-6 protein  
Size: 261 amino acids; 30387 Da
Subunit: A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity)
Secondary accessions: B3KQN2 Q5Q1H9 Q5Q1I0 Q5Q1I1 Q5T5U0 Q8IUP0

Explore the universe of human proteins at neXtProt for GJB6: NX_O95452

Explore proteomics data for GJB6 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GJB6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001103689.1  NP_001103690.1  NP_001103691.1  NP_006774.2  

    ENSEMBL proteins: 
     ENSP00000241124   ENSP00000382939   ENSP00000382938   ENSP00000348521  
    Reactome Protein details: O95452

    GJB6 Human Recombinant Protein Products:

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    Novus Biologicals GJB6 Protein
    Novus Biologicals GJB6 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    GJB6 Antibody Products:

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    GJB6 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GJ: Ion channels / Gap junction proteins (connexins)

    IUPHAR Guide to PHARMACOLOGY protein family classification: Cx30
    Connexins and Pannexins

    4 InterPro protein domains:
     IPR000500 Connexin
     IPR019570 Connexin_CCC
     IPR013092 Connexin_N
     IPR017990 Connexin_CS

    Graphical View of Domain Structure for InterPro Entry O95452

    ProtoNet protein and cluster: O95452

    1 Blocks protein domain: IPB013092 Connexin

    UniProtKB/Swiss-Prot: CXB6_HUMAN, O95452
    Similarity: Belongs to the connexin family. Beta-type (group I) subfamily


    GJB6 for domains           About GeneDecksing


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

         UniProtKB/Swiss-Prot Summary: CXB6_HUMAN, O95452
    Function: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons,
    through which materials of low MW diffuse from one cell to a neighboring cell

         Genatlas biochemistry entry for GJB6:
    gap junction protein,beta six,mouse CX30 homolog,expressed in the cochlea

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    GJB6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GJB6:
     Increased gamma-H2AX phosphory 

         7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Gjb6):
     behavior/neurological  cardiovascular system  hearing/vestibular/ear  homeostasis/metabolism  immune system 
     nervous system  no phenotypic analysis 

    GJB6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gjb6tm1.1Mcsa for GJB6

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GJB6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GJB6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GJB6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GJB6

    miRNA
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    miRTarBase miRNAs that target GJB6:
    hsa-mir-335-5p (MIRT017331)

    Block miRNA regulation of human, mouse, rat GJB6 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate GJB6:
    hsa-miR-3163 hsa-miR-203 hsa-miR-340 hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidGJB6 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GJB6
    Predesigned siRNA for gene silencing in human, mouse, rat GJB6

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for GJB6 (see all 22)
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    GenScript: all cDNA clones in your preferred vector (see all 4): GJB6 (NM_006783)
    Sino Biological Human cDNA Clone for GJB6
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GJB6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJB6

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    Browse ESI BIO Cell Lines and PureStem Progenitors for GJB6 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJB6


    (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
    CXB6_HUMAN, O95452: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton2
    extracellular2
    golgi apparatus1
    lysosome1
    mitochondrion1
    nucleus1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane ----
    GO:0005921gap junction ----
    GO:0005922connexon complex IEA--
    GO:0016021integral component of membrane IEA--

    GJB6 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GJB6 About    
    See pathways by source

    SuperPathContained pathways About
    1Gap junction trafficking
    Gap junction trafficking0.93
    Gap junction assembly0.00
    Gap junction trafficking and regulation0.93
    2Myometrial Relaxation and Contraction Pathways
    Calcium Regulation in the Cardiac Cell0.43
    3Clathrin derived vesicle budding
    Membrane Trafficking0.32
    4Signaling in Gap Junctions
    Signaling in Gap Junctions0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for GJB6
        Signaling in Gap Junctions

    1 BioSystems Pathway for GJB6
        Calcium Regulation in the Cardiac Cell


    1 Reactome Pathway for GJB6
        Gap junction assembly



    GJB6 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GJB6: 
              Cell Junction PathwayFinder in human mouse rat
              Huntington's Disease in human mouse rat
              Gap Junctions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GJB6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GJB6 (O954523 ENSP000002411244) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GJB2P290333, ENSP000003722954I2D: score=2 STRING: ENSP00000372295
    CNSTQ6PJW83, ENSP000003554704I2D: score=1 STRING: ENSP00000355470
    TJP1Q071573, ENSP000002815374I2D: score=1 STRING: ENSP00000281537
    GJA10ENSP000003583584STRING: ENSP00000358358
    GJA3ENSP000002411254STRING: ENSP00000241125
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--
    GO:0007154cell communication IEA--
    GO:0007605sensory perception of sound IEA--
    GO:0008285negative regulation of cell proliferation IEA--
    GO:0042471ear morphogenesis IEA--

    GJB6 for ontologies           About GeneDecksing



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

    Compounds for GJB6 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Gap 27Selective gap junction blocker[198284-64-9]
    Scrambled 10Panx Scrambled version of 10Panx (Cat. No. 3348), Panx-1 mimetic inhibitory peptide [1315378-72-3]
    Carbenoxolone disodiumGap junction blocker. Also inhibitor of 11 beta-hydroxysteroid dehydrogenase[7421-40-1]
    10PanxPanx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions[955091-53-9]

    4 IUPHAR Ligands for GJB6 (Cx30)    About this table
    LigandTypeActionAffinityPubmed IDs
    flufenamic acid
    InhibitorNone--
    octanol
    InhibitorNone--
    Ca2+
    InhibitorNone--
    carbenoxolone
    InhibitorNone--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GJB6 gene (4 alternative transcripts): 
    NM_001110219.2  NM_001110220.2  NM_001110221.2  NM_006783.4  

    Unigene Cluster for GJB6:

    Gap junction protein, beta 6, 30kDa
    Hs.511757  [show with all ESTs]
    Unigene Representative Sequence: NM_001110219
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000241124(uc001umz.4) ENST00000400066 ENST00000400065 ENST00000356192(uc001unc.4 uc001una.4 uc001und.4 uc001unb.4)

    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate GJB6:
    hsa-miR-3163 hsa-miR-203 hsa-miR-340 hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidGJB6 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GJB6
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    GenScript: all cDNA clones in your preferred vector (see all 4): GJB6 (NM_006783)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GJB6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJB6
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GJB6
      QuantiTect SYBR Green Assays in human, mouse, rat GJB6
      QuantiFast Probe-based Assays in human, mouse, rat GJB6

    Additional mRNA sequence: 

    AK075247.1 AK289592.1 AK312352.1 AY297110.1 AY789474.1 AY789475.1 AY789476.1 BC038934.1 
    U64469.1 

    6 DOTS entries:

    DT.40113167  DT.99933425  DT.97827901  DT.97827902  DT.100777771  DT.95296856 

    Selected AceView cDNA sequences (see all 31):

    BG678911 BC038934 AY297110 BI753411 NM_006783 AI694073 BE181310 BG682360 
    AK075247 BM549069 BX441414 BM910179 BX435107 AI569513 BM927223 BG286709 
    CB985877 CF453597 N64339 BM045089 BE181335 BE185135 BE149572 BF096149 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GJB6 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f
    SP1:                                -           -                                             
    SP2:                                -           -                                             
    SP3:                                -     -     -                                             
    SP4:                          -     -     -     -                                             
    SP5:                                      -     -                                             


    ECgene alternative splicing isoforms for GJB6

    (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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    GJB6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATACGCTTAA
    GJB6 Expression
    About this image


    GJB6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Lung (Respiratory System)
             Basal Cells Respiratory Bronchioles
     
     Esophagus (Gastrointestinal Tract)
    GJB6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GJB6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.511757
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GJB6: 
              Cell Junction PathwayFinder in human mouse rat
              Huntington's Disease in human mouse rat
              Gap Junctions in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for GJB6
    OriGene qSTAR qPCR primer pairs in human, mouse for GJB6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GJB6
    QuantiTect SYBR Green Assays in human, mouse, rat GJB6
    QuantiFast Probe-based Assays in human, mouse, rat GJB6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJB6

    (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

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    This gene was present in the common ancestor of chordates.

    Orthologs for GJB6 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gjb61 , 5 gap junction protein, beta 61, 5 86.33(n)1
    95.4(a)1
      14 (30.10 cM)5
    146231  NM_001010937.21  NP_001010937.11 
     571233035 
    chicken
    (Gallus gallus)
    Aves GJB61 gap junction protein, beta 6, 30kDa 73.31(n)
    73.56(a)
      395771  NM_204931.1  NP_990262.1 
    lizard
    (Anolis carolinensis)
    Reptilia GJB66
    gap junction protein, beta 6, 30kDa
    76(a)
    1 ↔ 1
    3(187331215-187352256)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gjb21 gap junction protein, beta 2, 26kDa 67.77(n)
    70.12(a)
      549738  NM_001016984.2  NP_001016984.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cx30.31 connexin 30.3 61.9(n)
    61.51(a)
      404725  NM_212825.2  NP_997990.2 


    ENSEMBL Gene Tree for GJB6 (if available)
    TreeFam Gene Tree for GJB6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GJB6 gene
    GJB32  GJA102  GJD32  GJB42  GJB22  GJB72  GJA42  GJA12  
    GJC12  GJB52  GJC22  GJA52  GJD22  GJA32  GJA92  GJA82  
    GJB12  
    15 SIMAP similar genes for GJB6 using alignment to 1 protein entry:     CXB6_HUMAN:
    GJB2    GJB1    GJB3    GJB5    GJB7    GJB4
    GJA8    GJC1    GJA4    GJA1    GJA3    GJA5
    GJD3    GJA9    GJC3

    GJB6 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GJB6 (see all 403)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289378721,2,,4
    CEctodermal dysplasia 2, Clouston type (ECTD2)4 pathogenic11751138(-) CCCAGC/TGCTGC 8 A V mis1 ese30--------
    VAR_0156964
    Ectodermal dysplasia 2, Clouston type (ECTD2)4--see VAR_0156962 G R mis40--------
    VAR_0168384
    Ectodermal dysplasia 2, Clouston type (ECTD2)4--see VAR_0168382 V E mis40--------
    VAR_0087114
    Deafness, autosomal dominant, 3B (DFNA3B)4--see VAR_0087112 T M mis40--------
    rs1110333381,2,,4
    C,Fnon-pathogenic11750806(-) CTGCGT/ACTGTG 8 /T /S mis12Minor allele frequency- A:0.01NA EU 5873
    rs1048944161,2
    Cpathogenic11751291(-) CCTCGA/TGGTGG 8 E V mis10--------
    rs1048944151,2
    Cpathogenic11751370(-) TCATCA/GGGGGT 8 R G mis10--------
    rs1048944141,2
    Cpathogenic11751387(-) GGGGAC/TGCTGC 8 T M mis10--------
    rs350020041,2
    C,Fprobable-non-pathogenic11750912(+) CAGGGC/TAGGTG 8 L syn13Minor allele frequency- T:0.00NA EU 5953
    rs679111771,2
    C--1608313(+) CACCG-/TGTTA 
     GCCAGGA
    TGGTC
    4 -- int10--------

    HapMap Linkage Disequilibrium report for GJB6 (20796101 - 20806534 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GJB6:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2751132CNV Loss17911159
    nsv899871CNV Loss21882294

    Human Gene Mutation Database (HGMD): GJB6
    Locus Specific Mutation Databases (LSDB): GJB6

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GJB6
    DNA2.0 Custom Variant and Variant Library Synthesis for GJB6

    (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: 604418   
    OMIM disorders: 612643  612645  220290  129500  
    UniProtKB/Swiss-Prot: CXB6_HUMAN, O95452
  • Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500]: A form of ectodermal dysplasia, a
    heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair,
    teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical
    features represents a different type of ectodermal dysplasia. ECTD2 is an autosomal dominant condition
    characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal
    sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent feature. Hearing impairment has
    been detected in few cases. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Deafness, autosomal recessive, 1B (DFNB1B) [MIM:612645]: A form of non-syndromic sensorineural hearing
    loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to
    the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Deafness, autosomal dominant, 3B (DFNA3B) [MIM:612643]: A form of non-syndromic sensorineural hearing
    loss characterized by a variable phenotype, ranging from bilateral middle to high frequency hearing loss to
    profound sensorineural deafness. Sensorineural deafness results from damage to the neural receptors of the inner
    ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • Selected diseases for GJB6 (see all 59):    
    About MalaCards
    deafness, digenic gjb2/gjb6    deafness, autosomal dominant 3b    hidrotic ectodermal dysplasia 2    clouston syndrome
    gjb6-related dfnb 1 nonsyndromic hearing loss and deafness    nonsyndromic hearing loss and deafness, dfna3    dfna 3 nonsyndromic hearing loss and deafness    gjb6-related dfna 3 nonsyndromic hearing loss and deafness
    nonsyndromic hearing loss and deafness    deafness, autosomal recessive 1b    dfnb 1 nonsyndromic hearing loss and deafness    bart-pumphrey syndrome
    sphenoid sinusitis    kid syndrome    nonsyndromic hearing loss and deafness, dfnb1    dfnb1
    pseudoainhum    congenital cytomegalovirus    ectodermal dysplasia    orchitis

    7 diseases from the University of Copenhagen DISEASES database for GJB6:
    Nonsyndromic deafness     Clouston syndrome     Sensorineural hearing loss     Hodgkin's lymphoma, nodular sclerosis
    Enlarged vestibular aqueduct     Bart-Pumphrey syndrome     Palmoplantar keratosis

    GJB6 for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for GJB6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dfnb1 96.5 28 11807148 (2), 19719946 (2), 16336662 (1), 19465004 (1) (see all 14)
    hidrotic ectodermal dysplasia 92.7 9 17160938 (1), 14708603 (1), 19318801 (1), 11874494 (1) (see all 6)
    hearing loss sensorineural 79.7 13 17666888 (2), 20233142 (2), 16840571 (1), 15064611 (1) (see all 6)
    congenital deafness 76.6 4 17152467 (1), 12910486 (1), 15638823 (1), 17426645 (1)
    deafness sensorineural 67.1 6 15464308 (1), 19285977 (1), 16222667 (1)
    skin diseases 44.4 5 12419304 (1), 11933201 (1), 19283857 (1)
    tumors 4.54 6 19844737 (5)
    cancer 2.74 11 17695503 (3), 19528455 (1)
    carcinoma 0 2 17695503 (1)

    GeneTests: GJB6
    GeneReviews: GJB6
    Genetic Association Database (GAD): GJB6
    Human Genome Epidemiology (HuGE) Navigator: GJB6 (72 documents)

    Export disorders for GJB6 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 GJB6 gene, integrated from 10 sources (see all 203):
    (articles sorted by number of sources associating them with GJB6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. (PubMed id 10471490)1, 2, 3 Grifa A.... Gasparini P. (Nat. Genet. 1999)
    2. [GJB6 gene mutation analysis in Chinese nonsyndromic deaf population]. (PubMed id 17438853)1, 4, 9 Yuan Y....Wu B. (Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2007)
    3. Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling. (PubMed id 19125024)1, 4, 9 Batissoco A.C....Mingroni-Netto R.C. (Ear Hear 2009)
    4. Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment. (PubMed id 17357124)1, 4, 9 Samanich J....Morrow B.E. (Am. J. Med. Genet. A 2007)
    5. GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment. (PubMed id 15345117)1, 4, 9 GrA...ndum-Nielsen K. (Genet. Test. 2004)
    6. Absence of GJB3 and GJB6 mutations in Moroccan familial and sporadic patients with autosomal recessive non-syndromic deafness. (PubMed id 18809214)1, 4, 9 Nahili H....Barakat A. (Int. J. Pediatr. Otorhinolaryngol. 2008)
    7. Genotyping for Cx26 and Cx30 mutations in cases with congenital hearing loss. (PubMed id 18554165)1, 4, 9 Evirgen N....ErkoAs A. (Genet. Test. 2008)
    8. Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12. (PubMed id 10610709)1, 2, 9 Kelley P.M....Kimberling W.J. (Genomics 1999)
    9. Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2. (PubMed id 20022641)1, 4, 9 Gravina L.P....Chertkoff L. (Int. J. Pediatr. Otorhinolaryngol. 2010)
    10. Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program. (PubMed id 16125251)1, 4, 9 Propst E.J....Papsin B.C. (Int. J. Pediatr. Otorhinolaryngol. 2006)

    (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: 10804 HGNC: 4288 AceView: GJB6 Ensembl:ENSG00000121742 euGenes: HUgn10804
    ECgene: GJB6 H-InvDB: GJB6

    (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 GJB6 Pharmacogenomics, SNPs, Pathways
    Connexin-deafness homepagehttp://davinci.crg.es/deafness/
    Hereditary hearing loss homepagehttp://webhost.ua.ac.be/hhh/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GJB6[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GJB6 gene:
    Search GeneIP for patents involving GJB6

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



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