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

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)
About This Section

Aliases
Gap Junction Protein, Beta 6, 30kDa1 2     HED2 5
ED21 2 5     Gap Junction Protein, Beta 61
DFNA31 2     ECTD22
Ectodermal Dysplasia 2, Hidrotic (Clouston Syndrome)1 2     EDH2
Gap Junction Protein, Beta 6 (Connexin 30)1 2     HED22
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 clouston syndrome, and hidrotic ectodermal dysplasia 2, and among its related super-pathways are Gap junction assembly and Myometrial Relaxation and Contraction Pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.2  NT_024524.14  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GJB6

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

UniProtKB/Swiss-Prot: 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)
Subcellular location: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95452

  • GJB6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GJB6 Protein Expression
    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
    Human Recombinant Protein Products for GJB6: 
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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. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IDA--
    GO:0005921gap junction ----
    GO:0005922connexon complex IEA--
    GO:0016021integral to membrane IEA--
    GO:0043231intracellular membrane-bounded organelle IDA--

    GJB6 for ontologies           About GeneDecksing



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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for GJB6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GJB6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GJB6 
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    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJB6


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GJB6 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Gap junction trafficking
    Gap junction trafficking0.74
    Gap junction trafficking and regulation0.70
    Gap junction assembly0.74
    2Calcium Regulation in the Cardiac Cell
    Calcium Regulation in the Cardiac Cell0.43
    3Membrane Trafficking
    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 QIAGEN Pathway Central Maps for GJB6
        Signaling in Gap Junctions

    1 BioSystems Pathway for GJB6
        Calcium Regulation in the Cardiac Cell

    4        Reactome Pathways for GJB6
        Gap junction assembly
    Gap junction trafficking
    Membrane Trafficking
    Gap junction trafficking and regulation



    GJB6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GJB6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/21 Interacting proteins for GJB6 (O954523 ENSP000002411244) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GJB2P290333, ENSP000003722954I2D: score=2 STRING: ENSP00000372295
    CNSTQ6PJW83, ENSP000003554704I2D: score=1 STRING: ENSP00000355470
    TJP1Q071573I2D: score=1 
    GJA1ENSP000002825614STRING: ENSP00000282561
    GJA10ENSP000003583584STRING: ENSP00000358358
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007154cell communication IEA--
    GO:0007605sensory perception of sound IEA--
    GO:0042471ear morphogenesis IEA--

    GJB6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    Search CenterWatch for drugs/clinical trials and news about GJB6 / CXB6

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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)

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    SwitchGear 3'UTR luciferase reporter plasmidGJB6 3' UTR sequence
    Inhib. RNA
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    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 

    24/31 AceView cDNA sequences (see all 31):

    BG678911 AY297110 BC038934 NM_006783 BI753411 CB985877 BX435107 AK075247 
    BG286709 BM910179 BE181310 BM927223 AI694073 AI569513 BX441414 CF453597 
    BG682360 BM549069 BE181335 N64339 BM045089 BE185135 AW860458 BE149762 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GJB6 expression in normal human tissues (normalized intensities)      GJB6 embryonic expression: see
    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 
     5/9 selected tissues (see all 9) fully expand
     
     Lung (Respiratory System)    fully expand to see all 3 entries
             Basal Cells Respiratory Bronchioles
             Human Bronchial Epithelial Cells (HBEpiC)   
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Adult Endothelial Cells Blood Brain Barrier
             Human Pulmonary Microvascular Endothelial Cells (HPMEC)   
     
     Blood Brain Barrier (Nervous 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
     
     Epithelium (Uncategorized)    fully expand to see all 2 entries
             Human Bronchial Epithelial Cells (HBEpiC)   

    See GJB6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GJB6

    SOURCE GeneReport for Unigene cluster: Hs.511757
        SABiosciences Expression via Pathway-Focused 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
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    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

    This gene was present in the common ancestor of chordates.

    Orthologs for GJB6 gene from 3/9 species (see all 9)    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_001010937.11  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 
    zebrafish
    (Danio rerio)
    Actinopterygii cx30.31 connexin 30.3 61.77(n)
    61.11(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)
    About This Section
    Paralogs for GJB6 gene
    GJB32  GJA102  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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/403 SNPs in GJB6 are shown (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
    ----------
    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--------
    rs289378721,2,4
    CEctodermal dysplasia 2, Clouston type (ECTD2)4 pathogenic11751138(-) CCCAGC/TGCTGC 8 A V mis1 ese30--------
    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
    VAR_0579604
    ----see VAR_0579602 G R mis40--------

    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604418   
    OMIM disorders: 612643  129500  612645  220290  
    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

  • 20/50 diseases for GJB6 (see all 50):    About MalaCards
    clouston syndrome    hidrotic ectodermal dysplasia 2    deafness, digenic gjb2/gjb6    deafness, autosomal dominant 3b
    gjb6-related dfnb 1 nonsyndromic hearing loss and deafness    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    dfnb1    pseudoainhum
    bart-pumphrey syndrome    sphenoid sinusitis    ectodermal dysplasia    congenital cytomegalovirus
    kid syndrome    orchitis    auditory neuropathy    pandas

    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)
    About This Section

    PubMed articles for GJB6 gene, integrated from 9 sources (see all 200):
    (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. (1999)
    2. [GJB6 gene mutation analysis in Chinese nonsyndromic deaf population] (PubMed id 17438853)1, 4, 9 Yuan Y....Wu B. (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. (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. (2007)
    5. GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment. (PubMed id 15345117)1, 4, 9 Gronskov K....Brondum-Nielsen K. (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. (2008)
    7. Genotyping for Cx26 and Cx30 mutations in cases with congenital hearing loss. (PubMed id 18554165)1, 4, 9 Evirgen N....Erkoc A. (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. (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. (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. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 10804 HGNC: 4288 AceView: GJB6 Ensembl:ENSG00000121742 euGenes: HUgn10804
    ECgene: GJB6 H-InvDB: GJB6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for 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/sites/GeneTests/lab/gene/GJB6

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