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

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)
About This Section

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

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 erythrokeratodermia variabilis, and neuropathy with hearing impairment, and among its related super-pathways are Gap junction assembly and Cell adhesion Gap junctions. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_032977.9  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GJB3

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

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75712

  • GJB3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GJB3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001005752.1  NP_076872.1  

    ENSEMBL proteins: 
     ENSP00000362464   ENSP00000362460  
    Reactome Protein details: O75712
    Human Recombinant Protein Products for GJB3: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

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

    GJB3 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: 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,
    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: 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 (GO ID links to tree view):    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:
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    SwitchGear 3'UTR luciferase reporter plasmidGJB3 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 GJB3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Gap junction trafficking
    Gap junction trafficking0.74
    Gap junction trafficking and regulation0.70
    Gap junction assembly0.74
    2Cell adhesion Gap junctions
    Cell adhesion Gap junctions0.89
    3Calcium Regulation in the Cardiac Cell
    Calcium Regulation in the Cardiac Cell0.43
    4Membrane Trafficking
    Membrane Trafficking0.32
    5Signaling in Gap Junctions
    Signaling in Gap Junctions0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for GJB3
        Cell adhesion Gap junctions

    1 Downloadable PowerPoint Slide of QIAGEN 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

    4        Reactome Pathways for GJB3
        Gap junction assembly
    Gap junction trafficking
    Membrane Trafficking
    Gap junction trafficking and regulation



    GJB3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GJB3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/23 Interacting proteins for GJB3 (O757123 ENSP000003624604) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    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): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0001890placenta development IEA--
    GO:0007154cell communication NAS--
    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 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

    GJB3 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about GJB3 / CXB3

    (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 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)
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    SwitchGear 3'UTR luciferase reporter plasmidGJB3 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

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

    4 DOTS entries:

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

    24/65 AceView cDNA sequences (see all 65):

    AI161372 BF843079 BM764020 AI159937 AA425732 AI948865 AL547036 CB131758 
    BM846903 BC012918 AW613197 BM908850 AK026139 BX370497 BM846348 AI692826 
    AL832611 BX089134 BG248324 BI850833 AI885485 BM849554 AA478222 AA635938 

    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

    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 
     5/16 selected tissues (see all 16) fully expand
     
     Epithelium
             Human Bronchial Epithelial Cells (HBEpiC)   
             esophageal epithelium   
     
     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
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Human Bronchial Epithelial Cells (HBEpiC)   
     
     Kidney (Urinary System)
             Ureteric Bud

    See GJB3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GJB3

    SOURCE GeneReport for Unigene cluster: Hs.522561
        SABiosciences Expression via Pathway-Focused PCR Arrays including GJB3: 
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat

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    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for GJB3 gene from 5/11 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 GJB36
    gap junction protein, beta 3, 31kDa
    74(a)
    1 ↔ 1
    23(4404012-4404779)
    lizard
    (Anolis carolinensis)
    Reptilia GJB36
    Gap junction protein
    74(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 69.38(n)
    70.33(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)
    About This Section
    Paralogs for GJB3 gene
    GJA102  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) 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

    10/217 SNPs in GJB3 are shown (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
    ----------
    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--------
    rs743153181,2,4
    CDeafness, autosomal dominant, 2B (DFNA2B)4 pathogenic135332497(+) CTACCA/GAGAAG 4 K E mis10--------
    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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing GJB3
    DNA2.0 Custom Variant and Variant Library Synthesis for GJB3

    (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: 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

  • 20/27 diseases for GJB3 (see all 27):    About MalaCards
    erythrokeratodermia variabilis    neuropathy with hearing impairment    deafness, autosomal dominant 2b    deafness, digenic, gjb2/gjb3
    gjb3-related erythrokeratodermia variabilis    dfna 2b nonsyndromic hearing loss and deafness    erythrokeratodermia variabilis et progressiva    pseudoainhum
    hypotrichosis-deafness syndrome    clouston syndrome    peripheral neuropathy    kid syndrome
    dfnb1    enlarged vestibular aqueduct    sensorineural hearing loss    skin disease
    keratoderma    macrothrombocytopenia    nonsyndromic hearing loss and deafness, autosomal dominant    hypotrichosis

    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)
    About This Section

    PubMed articles for GJB3 gene, integrated from 9 sources (see all 115):
    (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. (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. (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. (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. (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. (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. (2000)
    7. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. (PubMed id 9843209)1, 2, 9 Richard G.... Bale S.J. (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. (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. (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. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2707 HGNC: 4285 AceView: GJB3 Ensembl:ENSG00000188910 euGenes: HUgn2707
    ECgene: GJB3 H-InvDB: GJB3

    (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 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/sites/GeneTests/lab/gene/GJB3

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