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GJB2 Gene

protein-coding   GIFtS: 65
GCID: GC13M020761

Gap Junction Protein, Beta 2, 26kDa

(Previous names: gap junction protein, beta 2, 26kD (connexin 26), gap junction...)
(Previous symbols: DFNB1, DFNA3)
Pneumococci & Pneumococcal Diseases Congress
  See related diseases
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(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 2, 26kDa1 2     PPK2 5
DFNA31 2     Gap Junction Protein, Beta 2, 26kD (Connexin 26)1
DFNB11 2     Gap Junction Protein, Beta 2, 26kDa (Connexin 26)1
Connexin 261 2     NSRD12
CX262 5     Gap Junction Beta-2 Protein2
DFNA3A2 5     Gap Junction Protein Beta 22
DFNB1A2 5     Connexin-263
HID2 5     Cx263
KID2 5     

External Ids:    HGNC: 42841   Entrez Gene: 27062   Ensembl: ENSG000001654747   OMIM: 1210115   UniProtKB: P290333   

Export aliases for GJB2 gene to outside databases

Previous GC identifers: GC13M018741 GC13M014741 GC13M019691 GC13M018559 GC13M019659 GC13M001567


(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 GJB2 Gene:
This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by
electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These
structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small
molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched
gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid
levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are
responsible for as much as 50% of pre-lingual, recessive deafness. (provided by RefSeq, Oct 2008)

GeneCards Summary for GJB2 Gene:
GJB2 (gap junction protein, beta 2, 26kDa) is a protein-coding gene. Diseases associated with GJB2 include mutism, and kid syndrome. GO annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot: CXB2_HUMAN, P29033
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 GJB2 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 GJB2 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  NT_024524.15  NC_018924.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GJB2 gene promoter:
         Elk-1   AP-1   ATF-2   MEF-2A   FOXO1a   c-Jun   aMEF-2   Pax-4a   ATF   FOXO1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for GJB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GJB2


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

Entrez Gene cytogenetic band: 13q11-q12   Ensembl cytogenetic band:  13q12.11   HGNC cytogenetic band: 13q11-q12

GJB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GJB2 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M020761:  view genomic region     (about GC identifiers)

Start:
20,761,602 bp from pter      End:
20,767,114 bp from pter
Size:
5,513 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CXB2_HUMAN, P29033 (See protein sequence)
Recommended Name: Gap junction beta-2 protein  
Size: 226 amino acids; 26215 Da
Subunit: A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity)
Caution: The Thr-34 allele was originally thought to be a cause of autosomal dominant and recessive deafness
(DFNA3 and DFNB1) (PubMed:9139825). However, Thr-34 effect on hearing is controversial. Some studies supports its
pathogenic role (PubMed:17935238 and PubMed:16849369). Others provide evidence of the non-pathogenic nature of
this variant (PubMed:9422505 and PubMed:14694360)
4 PDB 3D structures from and Proteopedia for GJB2:
1XIR (3D)        2ZW3 (3D)        3IZ1 (3D)        3IZ2 (3D)    
Secondary accessions: Q508A5 Q508A6 Q5YLL0 Q5YLL1 Q5YLL4 Q6IPV5 Q86U88 Q96AK0 Q9H536 Q9NNY4

Explore the universe of human proteins at neXtProt for GJB2: NX_P29033

Explore proteomics data for GJB2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GJB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003995.2  
    ENSEMBL proteins: 
     ENSP00000372299   ENSP00000372295  
    Reactome Protein details: P29033

    GJB2 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for GJB2
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    Novus Biologicals GJB2 Proteins
    Novus Biologicals GJB2 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    GJB2 Antibody Products:

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    GJB2 Assay Products:

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    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: Cx26
    Connexins and Pannexins

    5 InterPro protein domains:
     IPR000500 Connexin
     IPR019570 Connexin_CCC
     IPR013092 Connexin_N
     IPR017990 Connexin_CS
     IPR002268 Connexin26

    Graphical View of Domain Structure for InterPro Entry P29033

    ProtoNet protein and cluster: P29033

    2 Blocks protein domains:
    IPB002268 Gap junction beta-2 protein (Cx26) signature
    IPB013092 Connexin


    UniProtKB/Swiss-Prot: CXB2_HUMAN, P29033
    Similarity: Belongs to the connexin family. Beta-type (group I) subfamily


    GJB2 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: CXB2_HUMAN, P29033
    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 GJB2:
    gap junction protein,beta 2,26kDa (connexin 26),expressed in the cochlea,weakly in the suprabasal layer of the
    epidermis and in epithelial cells of the mammary gland and endometre,monomer of the connexon (six subunits
    including GJA3,GJA8,GJB1,GJB2))

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005243gap junction channel activity IEA--
    GO:0005515protein binding ----
         
    GJB2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GJB2:
     Decreased focal adhesion (FA)  

         Selected MGI mutant phenotypes (inferred from 12 alleles(MGI details for Gjb2) (see all 17):
     cardiovascular system  cellular  craniofacial  embryogenesis  growth/size/body 
     hearing/vestibular/ear  homeostasis/metabolism  immune system  integument  limbs/digits/tail 
     mortality/aging  nervous system  no phenotypic analysis  normal  reproductive system 

    GJB2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gjb2tm1Kwi for GJB2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GJB2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GJB2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GJB2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GJB2

    miRNA
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    miRTarBase miRNAs that target GJB2:
    hsa-mir-193b-3p (MIRT016358), hsa-mir-335-5p (MIRT017821)

    Block miRNA regulation of human, mouse, rat GJB2 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate GJB2:
    hsa-miR-520d-5p hsa-miR-9* hsa-miR-524-5p hsa-miR-944
    SwitchGear 3'UTR luciferase reporter plasmidGJB2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GJB2
    Predesigned siRNA for gene silencing in human, mouse, rat GJB2

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    GenScript: all cDNA clones in your preferred vector: GJB2 (NM_004004)
    Sino Biological Human cDNA Clone for GJB2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GJB2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJB2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJB2


    (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
    CXB2_HUMAN, P29033: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    mitochondrion2
    cytoskeleton1
    extracellular1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005793endoplasmic reticulum-Golgi intermediate compartment TAS--
    GO:0005886plasma membrane TAS--
    GO:0005921gap junction ----
    GO:0005922connexon complex IEA--
    GO:0016021integral component of membrane IEA--

    GJB2 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 GJB2 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Gap junction trafficking
    Gap junction trafficking0.93
    Gap junction assembly0.00
    Gap junction trafficking and regulation0.93
    2Oligomerization of connexins into connexons
    Oligomerization of connexins into connexons
    Transport of connexins along the secretory pathway0.00
    Transport of connexons to the plasma membrane0.00
    3Myometrial Relaxation and Contraction Pathways
    Calcium Regulation in the Cardiac Cell0.43
    4Clathrin derived vesicle budding
    Membrane Trafficking0.32
    5Signaling 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 GJB2
        Signaling in Gap Junctions

    1 GeneGo (Thomson Reuters) Pathway for GJB2
        Cell adhesion Gap junctions

    1 BioSystems Pathway for GJB2
        Calcium Regulation in the Cardiac Cell


    4 Reactome Pathways for GJB2
        Gap junction assembly
    Transport of connexons to the plasma membrane
    Transport of connexins along the secretory pathway
    Oligomerization of connexins into connexons



    GJB2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GJB2: 
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat
              Stem Cells in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GJB2

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

    Selected Interacting proteins for GJB2 (P290333 ENSP000003722954) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CAV1Q031353, ENSP000003391914I2D: score=2 STRING: ENSP00000339191
    CNSTQ6PJW83, ENSP000003554704I2D: score=1 STRING: ENSP00000355470
    GJB1P080343, ENSP000003549004I2D: score=1 STRING: ENSP00000354900
    GJB6O954523, ENSP000002411244I2D: score=2 STRING: ENSP00000241124
    GJA8ENSP000002409864STRING: ENSP00000240986
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS1324944
    GO:0007267cell-cell signaling IEA--
    GO:0007605sensory perception of sound IEA--
    GO:0016264gap junction assembly TAS--
    GO:0030539male genitalia development IEA--

    GJB2 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 GJB2 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 GJB2 (Cx26)    About this table
    LigandTypeActionAffinityPubmed IDs
    flufenamic acid
    InhibitorNone--
    octanol
    InhibitorNone--
    Ca2+
    InhibitorNone--
    carbenoxolone
    InhibitorNone--

    Selected Novoseek inferred chemical compound relationships for GJB2 gene (see all 32)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    oleamide 46.3 4 17290388 (1), 17499720 (1), 16982053 (1)
    polyphosphate 44.3 7 10872445 (1), 10931957 (1), 16684595 (1), 19395572 (1) (see all 6)
    apai 31.9 2 16335400 (1), 17505205 (1)
    aminoglycosides 29.7 1 16650816 (1)
    nocodazole 26.9 4 10085106 (2), 15128867 (1)
    aequorin 24.9 3 9792698 (1), 9430718 (1)
    asparagine 18.3 2 15798904 (1)
    ganciclovir 10.7 1 11668482 (1)
    5-aza-2'deoxycytidine 9.99 4 11872627 (1), 15386363 (1), 10769635 (1)
    guanine 9.88 2 10477435 (1), 10860712 (1)



    GJB2 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,
    Conferences by KenesGroup, 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 GJB2 gene: 
    NM_004004.5  

    Unigene Cluster for GJB2:

    Gap junction protein, beta 2, 26kDa
    Hs.524894  [show with all ESTs]
    Unigene Representative Sequence: NM_004004
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000382848(uc001umy.3) ENST00000382844(uc021rha.1)

    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate GJB2:
    hsa-miR-520d-5p hsa-miR-9* hsa-miR-524-5p hsa-miR-944
    SwitchGear 3'UTR luciferase reporter plasmidGJB2 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat GJB2

    Additional mRNA sequence: 

    AK225966.1 AK313595.1 BC017048.1 BC071703.1 BT006732.1 JQ342677.1 

    4 DOTS entries:

    DT.113841  DT.91943064  DT.100743979  DT.120785344 

    Selected AceView cDNA sequences (see all 120):

    BM785180 BG677522 H88913 CA454536 T28737 BE711436 AW117930 BG679999 
    CD370089 BG677671 BG678543 BG698685 CA310936 BC071703 BF149255 BG319511 
    BE465701 AW384563 AW192488 BC017048 AA315269 BX476464 AI816732 BG677055 

    GeneLoc Exon Structure


    (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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    GJB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTTCCAAAA
    GJB2 Expression
    About this image


    GJB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Testis (Reproductive System)
             Pre-Sertoli Cells Testis Cord
     
     Neural Crest (Gastrulation Derivatives)
             PureStem SM30, NCr-fac & Meso-latp Progenitor
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Lung (Respiratory System)
             Basal Cells Respiratory Bronchioles
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    GJB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GJB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.524894
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GJB2: 
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat
              Stem Cells in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for GJB2
    OriGene qSTAR qPCR primer pairs in human, mouse for GJB2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GJB2
    QuantiTect SYBR Green Assays in human, mouse, rat GJB2
    QuantiFast Probe-based Assays in human, mouse, rat GJB2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJB2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for GJB2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gjb21 , 5 gap junction protein, beta 21, 5 87.17(n)1
    92.92(a)1
      14 (30.10 cM)5
    146191  NM_008125.31  NP_032151.11 
     570986005 
    chicken
    (Gallus gallus)
    Aves GJB21 gap junction protein, beta 2, 26kDa 73.48(n)
    78.64(a)
      428083  NM_001270816.1  NP_001257745.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Gap junction protein
    23(a)
    many ↔ many
    1(94509789-94514338)
    African clawed frog
    (Xenopus laevis)
    Amphibia gjb2-prov2 gap junction membrane channel protein beta 6 75.88(n)    BC043797.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cx30.36
    connexin 30.3
    55(a)
    1 → many
    9(22434534-22438411) ENSDARG00000042707


    ENSEMBL Gene Tree for GJB2 (if available)
    TreeFam Gene Tree for GJB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GJB2 gene
    GJB32  GJA102  GJD32  GJB62  GJB42  GJB72  GJA42  GJA12  
    GJC12  GJB52  GJC22  GJA52  GJD22  GJA32  GJA92  GJA82  
    GJB12  
    17 SIMAP similar genes for GJB2 using alignment to 6 protein entries:     CXB2_HUMAN (see all proteins):
    GJB6    GJB1    GJB5    GJB4    GJB3    GJB7
    GJC1    GJA4    GJA3    GJA9    GJA8    GJA1
    GJD3    GJA5    GJC3    GJD2    GJC2

    GJB2 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

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    Selected SNPs for GJB2 (see all 297)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289315951,2,,4
    CDeafness, autosomal dominant, 3A (DFNA3A)4 pathogenic11716965(-) CTGTGA/GACTGC 2 N D mis1 ese30--------
    rs289315921,2,,4
    CDeafness, autosomal recessive, 1A (DFNB1A)4 pathogenic11717024(-) GTACGA/TCGGCT 2 D V mis1 ese30--------
    rs289315941,2,,4
    CKeratitis-ichthyosis-deafness syndrome (KID syndrome)4 pathogenic11717352(-) AGGCCA/G/TACTTT 3 N D Y mis1 ese30--------
    rs724742241,2,,4
    C,FDeafness, autosomal recessive, 1A (DFNB1A)4 pathogenic11717391(+) CACAAC/TGAGGA 2 I V mis18Minor allele frequency- T:0.00MN EA NA EU 6403
    rs289294851,2,,4
    CKeratitis-ichthyosis-deafness syndrome (KID syndrome)4 pathogenic11717450(-) ACACTC/TCACCA 2 S F mis1 ese30--------
    VAR_0327514
    Bart-Pumphrey syndrome (BPS)4--see VAR_0327512 G S mis40--------
    VAR_0236174
    Deafness, autosomal recessive, 1A (DFNB1A)4--see VAR_0236172 L P mis40--------
    VAR_0159434
    Deafness, autosomal recessive, 1A (DFNB1A)4--see VAR_0159432 R P mis40--------
    VAR_0154604
    Deafness, autosomal recessive, 1A (DFNB1A)4--see VAR_0154602 R W mis40--------
    VAR_0607994
    Keratoderma, palmoplantar, with deafness (PPKDFN)4--see VAR_0607992 H R mis40--------

    HapMap Linkage Disequilibrium report for GJB2 (20761602 - 20767114 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GJB2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv899871CNV Loss21882294
    nsv899870CNV Loss21882294

    Human Gene Mutation Database (HGMD): GJB2
    Locus Specific Mutation Databases (LSDB): GJB2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GJB2
    DNA2.0 Custom Variant and Variant Library Synthesis for GJB2

    (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.)
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    OMIM gene information: 121011   
    OMIM disorders: 220290  601544  124500  148350  148210  602540  149200  
    UniProtKB/Swiss-Prot: CXB2_HUMAN, P29033
  • Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]: 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, 3A (DFNA3A) [MIM:601544]: 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
  • Vohwinkel syndrome (VS) [MIM:124500]: VS is an autosomal dominant disease characterized by
    hyperkeratosis, constriction on fingers and toes and congenital deafness. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350]: An autosomal dominant disorder
    characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency,
    sensorineural deafness. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]: An autosomal dominant form of
    ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development
    of two or more ectodermal structures. Keratitis-ichthyosis-deafness syndrome is characterized by the association
    of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical
    features include deafness, ichthyosis, photophobia, absent or decreased eyebrows, sparse or absent scalp hair,
    decreased sweating and dysplastic finger and toenails. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Bart-Pumphrey syndrome (BPS) [MIM:149200]: An autosomal dominant disorder characterized by sensorineural
    hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic
    variability. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:602540]: An autosomal dominant
    keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin.
    HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin
    symptoms and the severity of the associated keratitis. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for GJB2 (see all 102):    
    About MalaCards
    mutism    kid syndrome    vohwinkel syndrome    hypotrichosis-deafness syndrome
    gjb2-related dfnb 1 nonsyndromic hearing loss and deafness    deafness, autosomal recessive 1a    deafness, autosomal dominant 3a    congenital cytomegalovirus
    bart-pumphrey syndrome    keratoderma palmoplantar deafness    gjb2-related dfna 3 nonsyndromic hearing loss and deafness    ichthyosis, hystrix-like, with deafness
    porokeratotic eccrine ostial and dermal duct nevus    dfnb1    keratitis    x-linked charcot-marie-tooth disease
    nonsyndromic hearing loss and deafness    cytomegalovirus infection    nonsyndromic hearing loss and deafness, dfna3    dfna 3 nonsyndromic hearing loss and deafness

    9 diseases from the University of Copenhagen DISEASES database for GJB2:
    Nonsyndromic deafness     Sensorineural hearing loss     Enlarged vestibular aqueduct     Keratosis
    Bart-Pumphrey syndrome     Clouston syndrome     Keratitis     Usher syndrome
    Erythrokeratodermia variabilis

    GJB2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    Selected Novoseek inferred disease relationships for GJB2 gene (see all 62)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dfnb1 97.4 135 10903123 (5), 17498471 (4), 16941638 (4), 11807148 (3) (see all 61)
    congenital deafness 92.4 54 11977173 (2), 14643477 (2), 15603707 (2), 17886676 (2) (see all 36)
    dfna3 90.2 15 12064630 (2), 10633133 (1), 16059934 (1), 9507396 (1) (see all 10)
    hearing loss sensorineural 88.5 118 15064611 (3), 15138772 (2), 19235794 (2), 12530196 (2) (see all 60)
    vohwinkel syndrome 87.7 19 17106596 (3), 17993581 (1), 10369869 (1), 10751668 (1) (see all 10)
    deafness sensorineural 85.4 36 15603707 (3), 12064630 (1), 18983339 (1), 10874298 (1) (see all 26)
    congenital hearing loss 85.1 17 15603707 (2), 14755431 (2), 18428366 (1), 18585793 (1) (see all 13)
    dfnb2 82.5 1 11101839 (1)
    enlarged vestibular aqueduct syndrome 82.3 1 17886676 (1)
    keratoderma palmoplantar 81.9 23 17993581 (2), 9856479 (2), 16059934 (1), 20096356 (1) (see all 16)

    GeneTests: GJB2
    GeneReviews: GJB2
    Genetic Association Database (GAD): GJB2
    Human Genome Epidemiology (HuGE) Navigator: GJB2 (252 documents)

    Export disorders for GJB2 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 GJB2 gene, integrated from 10 sources (see all 888):
    (articles sorted by number of sources associating them with GJB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants. (PubMed id 14722929)1, 2, 4, 9 Gasmelseed N.M.A....Meyer C.G. (Hum. Mutat. 2004)
    2. Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. (PubMed id 11313763)1, 2, 4, 9 Loffler J.... Janecke A.R. (Eur. J. Hum. Genet. 2001)
    3. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. (PubMed id 15482471)1, 2, 4, 9 Richard G.... Krol A. (J. Invest. Dermatol. 2004)
    4. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. (PubMed id 9139825)1, 2, 3, 9 Kelsell D.P.... Leigh I.M. (Nature 1997)
    5. M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance. (PubMed id 17935238)1, 2, 4 Pollak A....Ploski R. (Am. J. Med. Genet. A 2007)
    6. GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. (PubMed id 12560944)1, 2, 4 Ohtsuka A.... Usami S. (Hum. Genet. 2003)
    7. 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)
    8. GJB2 mutations and additional disabilities in a pediatric cochlear implant population. (PubMed id 16154643)1, 4, 9 Wiley S....Greinwald J. (Int. J. Pediatr. Otorhinolaryngol. 2006)
    9. Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2). (PubMed id 11438992)1, 4, 9 Lin D....Lalwani A.K. (Hum. Mutat. 2001)
    10. Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. (PubMed id 12668604)1, 2, 9 Marziano N.K.... Forge A. (Hum. Mol. Genet. 2003)

    (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)
    About This Section

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    Entrez Gene: 2706 HGNC: 4284 AceView: GJB2 Ensembl:ENSG00000165474 euGenes: HUgn2706
    ECgene: GJB2 H-InvDB: GJB2

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for GJB2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GJB2 Genetics and Cytogenetics in Oncology and Haematology
    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=GJB2[genesymbol]

    (Patent information from GeneIP,
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    Patent Information for GJB2 gene:
    Search GeneIP for patents involving GJB2

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



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