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

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

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 dfnb1, and kid syndrome, and among its related super-pathways are Gap junction assembly and Transport of connexins along the secretory pathway. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NT_024524.14  NC_018924.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GJB2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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)
Subcellular location: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P29033

  • GJB2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GJB2 Protein Expression
    REFSEQ proteins: NP_003995.2  
    ENSEMBL proteins: 
     ENSP00000372299   ENSP00000372295  
    Reactome Protein details: P29033
    Human Recombinant Protein Products for GJB2: 
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    Novus Biologicals GJB2 Proteins
    Novus Biologicals GJB2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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 to membrane IEA--

    GJB2 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: 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,
    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: 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 (GO ID links to tree view):    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)  

         15/17 MGI mutant phenotypes (inferred from 12 alleles(MGI details for Gjb2) (see all 17):
     cardiovascular system  cellular  craniofacial  embryogenesis  growth/size 
     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 - Custom generated mouse model solutions for GJB2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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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    4 QIAGEN miScript miRNA 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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    (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 GJB2 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Gap junction trafficking
    Gap junction trafficking0.74
    Gap junction trafficking and regulation0.70
    Gap junction assembly0.74
    2Oligomerization of connexins into connexons
    Oligomerization of connexins into connexons1.00
    Transport of connexins along the secretory pathway1.00
    3Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
    Transport of connexons to the plasma membrane0.93
    4Cell adhesion Gap junctions
    Cell adhesion Gap junctions0.89
    5Calcium Regulation in the Cardiac Cell
    Calcium Regulation in the Cardiac Cell0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for GJB2
        Cell adhesion Gap junctions

    1 Downloadable PowerPoint Slide of QIAGEN 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

    5/7        Reactome Pathways for GJB2 (see all 7)
        Gap junction assembly
    Gap junction trafficking
    Membrane Trafficking
    Transport of connexons to the plasma membrane
    Gap junction trafficking and regulation



    GJB2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GJB2

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

    5/25 Interacting proteins for GJB2 (P290333 ENSP000003722954) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    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
    GJA1ENSP000002825614STRING: ENSP00000282561
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    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 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

    GJB2 for compounds           About GeneDecksing

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

    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--

    10/32 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)

    Search CenterWatch for drugs/clinical trials and news about GJB2 / CXB2

    (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 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)
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    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 

    24/120 AceView cDNA sequences (see all 120):

    CA454536 T28737 BG677522 BM785180 H88913 BG677944 CA310936 AA315269 
    AI589498 BG679984 AI816732 AI280695 BE465701 BG677671 AW276060 BG681001 
    AA257102 AI076554 BG742523 BC017048 AA315280 BI085076 BE711440 AW117930 

    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™, 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

    GJB2 expression in normal human tissues (normalized intensities)      GJB2 embryonic expression: see
    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 
     5/36 selected tissues (see all 36) fully expand
     
     Epithelium
             Human Bronchial Epithelial Cells (HBEpiC)   
     
     Lung (Respiratory System)    fully expand to see all 6 entries
             Basal Cells Respiratory Bronchioles
             bronchus ; respiratory epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Pre-Sertoli Cells Testis Cord
             seminal vesicle ; glandular cells   
             visceral organ/testis/seminiferous cord   
     
     Oral Cavity (Gastrointestinal Tract)    fully expand to see all 4 entries
             Human Oral Keritinocytes (HOK)   
             TONGUE   
     
     Epidermis (Integumentary System)    fully expand to see all 4 entries
             Stratified Epidermis
             Human EpiDermal Keratinocytes (HEK)   

    See GJB2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GJB2

    SOURCE GeneReport for Unigene cluster: Hs.524894
        SABiosciences Expression via Pathway-Focused PCR Arrays including GJB2: 
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat
              Stem Cells in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for GJB2 gene from 5/12 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 73.18(n)
    78.64(a)
      428083  XM_425641.3  XP_425641.3 
    lizard
    (Anolis carolinensis)
    Reptilia GJB26
    gap junction protein, beta 2, 26kDa
    69(a)
    1 ↔ 1
    3(187331215-187352256)
    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
    56(a)
    1 → many
    9(22434534-22438411)


    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)
    About This Section
    Paralogs for GJB2 gene
    GJB32  GJA102  GJB62  GJB42  GJB72  GJA42  GJA12  GJC12  
    GJB52  GJC22  GJA52  GJD22  GJA32  GJA92  GJA82  GJB12  
    17 SIMAP similar genes for GJB2 using alignment to 3 protein entries:     CXB2_HUMAN (see all proteins):
    GJB1    GJB6    GJB5    GJB4    GJB3    GJB7
    GJC1    GJA3    GJA4    GJA8    GJA9    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) 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

    10/297 SNPs in GJB2 are shown (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
    ----------
    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--------
    VAR_0087094
    Deafness, autosomal dominant, 3A (DFNA3A)4--see VAR_0087092 W C mis40--------
    VAR_0236144
    Deafness, autosomal dominant, 3A (DFNA3A)4--see VAR_0236142 R Q mis40--------
    VAR_0236074
    Deafness, autosomal recessive, 1A (DFNB1A)4--see VAR_0236072 L P mis40--------
    VAR_0159444
    Deafness, autosomal dominant, 3A (DFNA3A)4--see VAR_0159442 C F mis40--------
    VAR_0154584
    Deafness, autosomal recessive, 1A (DFNB1A)4--see VAR_0154582 T 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
    SABiosciences Cancer Mutation PCR Assays
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    (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: 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

  • 20/91 diseases for GJB2 (see all 91):    About MalaCards
    dfnb1    kid syndrome    cytomegalovirus infection    congenital cytomegalovirus
    vohwinkel syndrome    bart-pumphrey syndrome    hypotrichosis-deafness syndrome    mutism
    gjb2-related dfnb 1 nonsyndromic hearing loss and deafness    deafness, autosomal recessive 1a    deafness, autosomal dominant 3a    keratoderma palmoplantar deafness
    gjb2-related dfna 3 nonsyndromic hearing loss and deafness    ichthyosis, hystrix-like, with deafness    porokeratotic eccrine ostial and dermal duct nevus    keratitis
    enlarged vestibular aqueduct    nonsyndromic hearing loss and deafness    dfna 3 nonsyndromic hearing loss and deafness    dfnb 1 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

    10/62 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)
    About This Section

    PubMed articles for GJB2 gene, integrated from 9 sources (see all 871):
    (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. (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. (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. (2004)
    4. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. (PubMed id 9139825)1, 2, 3, 9 Kelsell D.P.... Leigh I.M. (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. (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. (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. (2006)
    8. GJB2 mutations and additional disabilities in a pediatric cochlear implant population. (PubMed id 16154643)1, 4, 9 Wiley S....Greinwald J. (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. (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. (2003)

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

    (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 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/sites/GeneTests/lab/gene/GJB2

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

     
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