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GJB3 Gene

protein-coding   GIFtS: 61
GCID: GC01P035246

Gap Junction Protein, Beta 3, 31kDa

(Previous names: gap junction protein, beta 3, 31kD (connexin 31), gap junction...)
(Previous symbols: DFNA2, EKV)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Gap Junction Protein, Beta 3, 31kDa1 2     Gap Junction Protein, Beta 3, 31kD (Connexin 31)1
CX312 3 5     Gap Junction Protein, Beta 3, 31kDa (Connexin 31)1
DFNA21 2     connexin-312
EKV1 2     Gap Junction Beta-3 Protein2
Connexin 311 2     Connexin-313
DFNA2B2 5     Cx313
Erythrokeratodermia Variabilis1     

External Ids:    HGNC: 42851   Entrez Gene: 27072   Ensembl: ENSG000001889107   OMIM: 6033245   UniProtKB: O757123   

Export aliases for GJB3 gene to outside databases

Previous GC identifers: GC01P035070 GC01P034302 GC01P034673 GC00M9U0045 GC01P034915 GC01P033365


(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 GJB3 Gene:
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are
composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight
materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia
variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same
protein. (provided by RefSeq, Jul 2008)

GeneCards Summary for GJB3 Gene:
GJB3 (gap junction protein, beta 3, 31kDa) is a protein-coding gene. Diseases associated with GJB3 include deafness, autosomal dominant, with peripheral neuropathy, and pseudoainhum. GO annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJA10.

UniProtKB/Swiss-Prot: CXB3_HUMAN, O75712
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 GJB3 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 GJB3 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_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the GJB3 gene promoter:
         CREB   Max1   USF1   USF-1   c-Myc   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGJB3 promoter sequence
   Search Chromatin IP Primers for GJB3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GJB3


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

Entrez Gene cytogenetic band: 1p34   Ensembl cytogenetic band:  1p34.3   HGNC cytogenetic band: 1p34

GJB3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GJB3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P035246:  view genomic region     (about GC identifiers)

Start:
35,246,790 bp from pter      End:
35,251,970 bp from pter
Size:
5,181 bases      Orientation:
plus 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: CXB3_HUMAN, O75712 (See protein sequence)
Recommended Name: Gap junction beta-3 protein  
Size: 270 amino acids; 30818 Da
Subunit: A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity)
Secondary accessions: B2R790 Q2TAZ8

Explore the universe of human proteins at neXtProt for GJB3: NX_O75712

Explore proteomics data for GJB3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GJB3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001005752.1  NP_076872.1  

    ENSEMBL proteins: 
     ENSP00000362464   ENSP00000362460  
    Reactome Protein details: O75712

    GJB3 Human Recombinant Protein Products:

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    GJB3 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
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    (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: Cx31
    Connexins and Pannexins

    5 InterPro protein domains:
     IPR000500 Connexin
     IPR019570 Connexin_CCC
     IPR013092 Connexin_N
     IPR002269 Connexin31
     IPR017990 Connexin_CS

    Graphical View of Domain Structure for InterPro Entry O75712

    ProtoNet protein and cluster: O75712

    2 Blocks protein domains:
    IPB002269 Gap junction beta-3 protein (Cx31) signature
    IPB013092 Connexin


    UniProtKB/Swiss-Prot: CXB3_HUMAN, O75712
    Similarity: Belongs to the connexin family. Beta-type (group I) subfamily


    GJB3 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: CXB3_HUMAN, O75712
    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 GJB3:
    gap junction protein beta 3,connexin 31,monomer of the connexon (six subunits), expressed in inner ear tissues and
    epidermis

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005243gap junction channel activity NAS9704026
    GO:0005515protein binding ----
         
    GJB3 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Gjb3):
     embryogenesis  homeostasis/metabolism  integument  mortality/aging  no phenotypic analysis 

    GJB3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GJB3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GJB3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GJB3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GJB3

    miRNA
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    miRTarBase miRNAs that target GJB3:
    hsa-mir-1 (MIRT023520)

    Block miRNA regulation of human, mouse, rat GJB3 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate GJB3:
    hsa-miR-3163 hsa-miR-3606 hsa-miR-921
    SwitchGear 3'UTR luciferase reporter plasmidGJB3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GJB3
    Predesigned siRNA for gene silencing in human, mouse, rat GJB3

    Gene Editing
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    OriGene clones in human, mouse for GJB3 (see all 10)
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    GenScript: all cDNA clones in your preferred vector (see all 2): GJB3 (NM_024009)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GJB3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJB3

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJB3


    (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
    CXB3_HUMAN, O75712: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    mitochondrion2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005911cell-cell junction ----
    GO:0005921gap junction NAS9704026
    GO:0005922connexon complex IEA--
    GO:0016021integral component of membrane IEA--

    GJB3 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 GJB3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Gap junction trafficking
    Gap junction trafficking0.93
    Gap junction assembly0.00
    Gap junction trafficking and regulation0.93
    2Myometrial Relaxation and Contraction Pathways
    Calcium Regulation in the Cardiac Cell0.43
    3Clathrin derived vesicle budding
    Membrane Trafficking0.32
    4Signaling in Gap Junctions
    Signaling in Gap Junctions0.31
    5Cell adhesion Gap junctions
    Cell adhesion Gap junctions

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for GJB3
        Signaling in Gap Junctions

    1 GeneGo (Thomson Reuters) Pathway for GJB3
        Cell adhesion Gap junctions

    1 BioSystems Pathway for GJB3
        Calcium Regulation in the Cardiac Cell

    1 Reactome Pathway for GJB3
        Gap junction assembly



    GJB3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GJB3: 
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GJB3

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

    Selected Interacting proteins for GJB3 (O757123 ENSP000003624604) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GJA1P173023, ENSP000002825614I2D: score=1 STRING: ENSP00000282561
    TJP1Q071573, ENSP000002815374I2D: score=1 STRING: ENSP00000281537
    CNSTENSP000003554704STRING: ENSP00000355470
    GJA10ENSP000003583584STRING: ENSP00000358358
    GJA3ENSP000002411254STRING: ENSP00000241125
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0001890placenta development IEA--
    GO:0007154cell communication IEA--
    GO:0007605sensory perception of sound IEA--
    GO:0043588skin development IEA--

    GJB3 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 GJB3 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 GJB3 (Cx31)    About this table
    LigandTypeActionAffinityPubmed IDs
    flufenamic acid
    InhibitorNone--
    octanol
    InhibitorNone--
    Ca2+
    InhibitorNone--
    carbenoxolone
    InhibitorNone--

    3 Novoseek inferred chemical compound relationships for GJB3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ethidium bromide 23 1 7537274 (1)
    proline 19.1 1 10798362 (1)
    potassium 0 1 10925378 (1)



    GJB3 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 GJB3 gene (2 alternative transcripts): 
    NM_001005752.1  NM_024009.2  

    Unigene Cluster for GJB3:

    Gap junction protein, beta 3, 31kDa
    Hs.522561  [show with all ESTs]
    Unigene Representative Sequence: BC110640
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373366(uc001bxx.3) ENST00000373362(uc001bxy.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat GJB3 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate GJB3:
    hsa-miR-3163 hsa-miR-3606 hsa-miR-921
    SwitchGear 3'UTR luciferase reporter plasmidGJB3 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat GJB3
      QuantiFast Probe-based Assays in human, mouse, rat GJB3

    Additional mRNA sequence: 

    AK026139.1 AK312890.1 BC012918.1 BC110640.1 

    4 DOTS entries:

    DT.100813289  DT.209676  DT.100813286  DT.121374481 

    Selected AceView cDNA sequences (see all 65):

    BM764020 AL547036 BM846903 CB131758 AA425732 AW613197 AI159937 BC012918 
    AI161372 AI948865 BF843079 BI850833 BG676434 BM849554 BX089134 AI885485 
    AW276400 BM977750 AW205164 BE646175 BM763034 BE673240 AI926084 BM846348 

    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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    GJB3 expression in normal human tissues (normalized intensities)      GJB3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGGGCAGTG
    GJB3 Expression
    About this image


    GJB3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Inner Cell Mass Cells Inner Cell Mass
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
     
     Gonad
             XY Germ Cells Testis Cord
     
     Ovary (Reproductive System)
             XX Germ Cells Ovigerous Cord
     
     Testis (Reproductive System)
             XY Germ Cells Testis Cord
     
     Kidney (Urinary System)
             Ureteric Bud
    GJB3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GJB3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.522561
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GJB3: 
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat

    Primer
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    QuantiTect SYBR Green Assays in human, mouse, rat GJB3
    QuantiFast Probe-based Assays in human, mouse, rat GJB3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJB3

    (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 GJB3 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gjb31 , 5 gap junction protein, beta 31, 5 83.33(n)1
    82.59(a)1
      4 (61.48 cM)5
    146201  NM_001160012.11  NP_001153484.11 
     1273252355 
    chicken
    (Gallus gallus)
    Aves GJB31 gap junction protein, beta 3, 31kDa 76.56(n)
    74.22(a)
      101748282  XM_004947781.1  XP_004947838.1 
    lizard
    (Anolis carolinensis)
    Reptilia GJB36
    gap junction protein, beta 3, 31kDa
    73(a)
    1 ↔ 1
    GL343594.1(193832-194629)
    African clawed frog
    (Xenopus laevis)
    Amphibia cx31-A2 gap junction protein, connexin 31 74.87(n)    AY057997.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cx35.41 connexin 35.4 71.81(n)
    74.3(a)
      550380  NM_001017685.1  NP_001017685.1 


    ENSEMBL Gene Tree for GJB3 (if available)
    TreeFam Gene Tree for GJB3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GJB3 gene
    GJA102  GJD32  GJB62  GJB42  GJB22  GJB72  GJA42  GJA12  
    GJC12  GJB52  GJC22  GJA52  GJD22  GJA32  GJA92  GJA82  
    GJB12  
    14 SIMAP similar genes for GJB3 using alignment to 1 protein entry:     CXB3_HUMAN:
    GJB1    GJB5    GJB2    GJB6    GJB7    GJB4
    GJA3    GJA8    GJA5    GJA1    GJA4    GJA9
    GJA10    GJC1

    GJB3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GJB3 (see all 217)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs743153181,2,,4
    CDeafness, autosomal dominant, 2B (DFNA2B)4 pathogenic135332497(+) CTACCA/GAGAAG 4 K E mis10--------
    VAR_0150874
    Deafness, autosomal dominant, 2B (DFNA2B)4--see VAR_0150872 I V mis40--------
    VAR_0021474
    Erythrokeratodermia variabilis (EKV)4--see VAR_0021472 G D mis40--------
    VAR_0150864
    Erythrokeratodermia variabilis (EKV)4--see VAR_0150862 F L mis40--------
    VAR_0021484
    Erythrokeratodermia variabilis (EKV)4--see VAR_0021482 G R mis40--------
    VAR_0021494
    Erythrokeratodermia variabilis (EKV)4--see VAR_0021492 C S mis40--------
    VAR_0150854
    Erythrokeratodermia variabilis (EKV)4--see VAR_0150852 R P mis40--------
    rs743153151,2
    Cpathogenic135331984(+) TGAGCC/GGTGTG 4 R G mis10--------
    rs743153161,2
    Cpathogenic135331985(+) GAGCGA/GTGTGA 4 D G mis10--------
    rs289375831,2
    Cpathogenic135332051(+) GGTGCC/TGGTAT 4 P L mis1 ese30--------

    HapMap Linkage Disequilibrium report for GJB3 (35246790 - 35251970 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for GJB3: --
    Human Gene Mutation Database (HGMD): GJB3
    Locus Specific Mutation Databases (LSDB): GJB3

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GJB3
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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.)
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    OMIM gene information: 603324   
    OMIM disorders: 133200  612644  220290  
    UniProtKB/Swiss-Prot: CXB3_HUMAN, O75712
  • Erythrokeratodermia variabilis (EKV) [MIM:133200]: A genodermatosis characterized by the appearance of
    two independent skin lesions: transient figurate erythematous patches and hyperkeratosis that is usually
    localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a
    family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Deafness, autosomal dominant, 2B (DFNA2B) [MIM:612644]: A form of non-syndromic sensorineural deafness
    characterized by progressive high frequency hearing loss in adulthood, with milder expression in females.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for GJB3 (see all 35):    About MalaCards
    deafness, autosomal dominant, with peripheral neuropathy    pseudoainhum    deafness, autosomal dominant 2b    deafness, digenic, gjb2/gjb3
    erythrokeratodermia variabilis    nonsyndromic hearing loss and deafness, dfnb1    autosomal recessive nonsyndromic deafness    neuropathy with hearing impairment
    gjb3-related erythrokeratodermia variabilis    dfna 2b nonsyndromic hearing loss and deafness    erythrokeratodermia variabilis et progressiva    clouston syndrome
    hypotrichosis-deafness syndrome    kid syndrome    peripheral neuropathy    nonsyndromic hearing loss and deafness, autosomal dominant
    dfnb1    enlarged vestibular aqueduct    deafness, autosomal dominant 4b    sensorineural hearing loss

    6 diseases from the University of Copenhagen DISEASES database for GJB3:
    Nonsyndromic deafness     Sensorineural hearing loss     Skin disease     Enlarged vestibular aqueduct
    Clouston syndrome     Hodgkin's lymphoma, nodular sclerosis

    GJB3 for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for GJB3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    erythrokeratodermia variabilis 98.6 24 14583444 (2), 12648223 (2), 12702148 (1), 15987604 (1) (see all 15)
    keratoderma palmoplantar 78.5 2 15668823 (1)
    hearing loss sensorineural 73.8 9 11450843 (1), 12165562 (1), 15140211 (1), 16259330 (1) (see all 5)
    hyperkeratosis 73.3 2 12648223 (1)
    skin diseases 62.6 21 17142249 (2), 12165562 (2), 10888284 (1), 10757647 (1) (see all 11)
    deafness sensorineural 60.3 5 15276679 (2)
    hearing loss high-frequency 55.8 3 10943702 (1), 9843210 (1)
    hearing impaired 49.1 1 15276679 (1)

    Genetic Association Database (GAD): GJB3
    Human Genome Epidemiology (HuGE) Navigator: GJB3 (18 documents)

    Export disorders for GJB3 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 GJB3 gene, integrated from 10 sources (see all 116):
    (articles sorted by number of sources associating them with GJB3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human gap junction protein connexin31: molecular cloning and expression analysis. (PubMed id 9704026)1, 2, 3, 9 Wenzel K.... Traub O. (Biochem. Biophys. Res. Commun. 1998)
    2. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. (PubMed id 9843210)1, 2, 3, 9 Xia J.-H....Huang J.Z. (Nat. Genet. 1998)
    3. Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment. (PubMed id 12630965)1, 4, 9 Mhatre A.N....Lalwani A.K. (Clin. Genet. 2003)
    4. Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria. (PubMed id 15276679)1, 4, 9 Frei K....Kirschhofer K. (Hear. Res. 2004)
    5. [Mutation analysis of GJB2, GJB3 and GJB6 gene in deaf population from special educational school of Chifeng city]. (PubMed id 18338563)1, 4, 9 Yuan Y....Han D. (Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2008)
    6. The spectrum of mutations in erythrokeratodermias -- novel and de novo mutations in GJB3. (PubMed id 10798362)1, 2, 9 Richard G.... Uitto J. (Hum. Genet. 2000)
    7. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. (PubMed id 9843209)1, 2, 9 Richard G.... Bale S.J. (Nat. Genet. 1998)
    8. Absence of GJB3 and GJB6 mutations in Moroccan familial and sporadic patients with autosomal recessive non-syndromic deafness. (PubMed id 18809214)1, 4, 9 Nahili H....Barakat A. (Int. J. Pediatr. Otorhinolaryngol. 2008)
    9. Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene. (PubMed id 10790215)1, 2, 9 Lopez-Bigas N.... Estivill X. (Hum. Mutat. 2000)
    10. Mutation in gap and tight junctions in patients with non-syndromic hearing loss. (PubMed id 19254696)1, 4, 9 Belguith H....Masmoudi S. (Biochem. Biophys. Res. Commun. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2707 HGNC: 4285 AceView: GJB3 Ensembl:ENSG00000188910 euGenes: HUgn2707
    ECgene: GJB3 H-InvDB: GJB3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GJB3 Pharmacogenomics, SNPs, Pathways
    Connexin-deafness homepagehttp://davinci.crg.es/deafness/
    Hereditary hearing loss homepagehttp://webhost.ua.ac.be/hhh/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GJB3[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GJB3 gene:
    Search GeneIP for patents involving GJB3

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



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