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

GJB3 Gene

protein-coding   GIFtS: 62
GCID: GC01P035246

gap junction protein, beta 3, 31kDa

(Previous names: gap junction protein, beta 3, 31kD (connexin 31), gap junction...)
(Previous symbols: DFNA2, EKV)
 Explore 22 diseases affiliated with
GJB3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GJB3    

Aliases
for GJB3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Gap Junction Protein, Beta 3, 31kDa1 2     Gap Junction Protein, Beta 3, 31kDa (Connexin 31)1
CX311 2 3 5     Connexin 312
DFNA21 2     Connexin-313
EKV1 2     Gap Junction Beta-3 Protein2
DFNA2B2 5     Connexin-313
Erythrokeratodermia Variabilis1     Cx313
Gap Junction Protein, Beta 3, 31kD (Connexin 31)1     

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


Summaries
for GJB3 gene

(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:
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)

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:
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  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 plasmid: GJB3 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

Proteins
for GJB3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75712

    • GJB3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000362464   ENSP00000362460  
    Reactome Protein details: O75712
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    Novus Biologicals GJB3 Protein
    Novus Biologicals GJB3 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for GJB3

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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


    GJB3 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for GJB3

    Protein Domains /
    Families
    for GJB3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GJB3 for domains           About GeneDecksing

    5 InterPro domains/families:
     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 families:
    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


    Function
    for GJB3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    miRNA
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    hsa-miR-3163 hsa-miR-3606 hsa-miR-921
    SwitchGear 3'UTR luciferase reporter plasmid: GJB3 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GJB3

    Gene Editing
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    Clone
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    In Situ Assay
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    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


    Animal Models:
         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


    Pathways & Interactions
    for GJB3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Gap junction assembly
    		Gap junction assembly1.00
    		Gap junction trafficking and regulation0.70
    		Gap junction trafficking0.74
    		Connexin synthesis (generic)0.52
    2Cell adhesion_Gap junctions
    		Cell adhesion_Gap junctions1.00
    		Cell adhesion Gap junctions0.89
    3Membrane Trafficking
    		Membrane Trafficking1.00
    4Signaling in Gap Junctions
    		Signaling in Gap Junctions1.00
    5Calcium Regulation in the Cardiac Cell
    		Calcium Regulation in the Cardiac Cell1.00

    Pathway sources
    See GeneCards unified pathways
    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

    5        Reactome Pathways for GJB3
        Gap junction assembly
    Gap junction trafficking
    Connexin synthesis (generic)
    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



    Drugs & Compounds
    for GJB3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 26Gap junction blocker; inhibits smooth muscle contraction and IP3-mediated ATP release[197250-15-0]
    Gap 27Selective gap junction blocker[198284-64-9]
    3 Novoseek 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 

    Transcripts
    for GJB3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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)

    miRNA
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    hsa-miR-3163 hsa-miR-3606 hsa-miR-921
    SwitchGear 3'UTR luciferase reporter plasmid: GJB3 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: GJB3
    OriGene siRNA: GJB3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GJB3
    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GJB3

    Additional cDNA 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):

    AL547036 BM764020 BM846903 AI159937 AA425732 BF843079 AI948865 AW613197 
    AI161372 CB131758 BC012918 BI085645 BX370497 BG286314 AF052692 BX342025 
    BI850833 AA635938 AA135355 AW304415 AK026139 BM977750 BE646175 AI692826 

    GeneLoc Exon Structure


    Expression
    for GJB3 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAGGGCAGTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    GJB3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    PlacentaChorioallantoic PlacentaExtraembryonic AngioblastsEndothelium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    for GJB3 gene

    (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 3/11 species (see all 11)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia GJB36
    		 --
    		 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
    for GJB3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GJB3 gene
    GJA102  GJB62  GJA42  GJC12  GJB52  GJC22  GJA52  GJD22  
    GJA32  GJA92  GJD32  GJB42  GJB22  GJB72  GJA12  GJA82  
    GJB12  
    16 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    GJD3    GJD4

    GJB3 for paralogs           About GeneDecksing



    Genomic Variants
    for GJB3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/174 NCBI SNPs in GJB3 are shown (see all 174)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1173856061,2
    		C,pathogenic49168449(+) TGGGCG/ACCTCC 4 /T /A mis11Minor allele frequency- A:0.01EA 120
    rs743153181,2
    		C,pathogenic49168482(+) CTACCA/GAGAAG 4 K E mis10--------
    rs743153201,2
    		Cpathogenic49168608(+) TCATCA/GTTGAG 4 I V mis10--------
    rs743153171,2
    		Cpathogenic49168773(+) TCACAA/TGCCCC 4 S C mis10--------
    rs743153211,2
    		Cpathogenic49168904(+) AGAGCC/GCGTGT 4 P R mis10--------
    rs289375831,2
    		Cpathogenic49168928(+) GGTGCT/CGGTAT 4 /P /L mis1 ese32Minor allele frequency- C:0.00NA 4
    rs743153161,2
    		Cpathogenic49168994(+) GAGCGA/GTGTGA 4 D G mis10--------
    rs743153151,2
    		Cpathogenic49168995(+) TGAGCC/GGTGTG 4 R G mis10--------
    rs783670141,2
    		C,--33362396(+) CGATTG/AGGCAA 1 -- us2k12Minor allele frequency- A:0.13CSA WA 120
    rs787696151,2
    		C,F,--33362474(+) GTAGAC/TACAAT 1 -- us2k11Minor allele frequency- T:0.13WA 118

    HapMap Linkage Disequilibrium report for GJB3 (35246790 - 35251970 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for GJB3: --
    Human Gene Mutation Database (HGMD): GJB3

    Locus Specific Mutation Databases (LSDB): GJB3

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    Disorders / Diseases
    for GJB3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    GJB3 for disorders           About GeneDecksing

    OMIM gene information: 603324   
    OMIM disorders: 133200  612644  220290  
    UniProtKB/Swiss-Prot: CXB3_HUMAN, O75712
  • Defects in GJB3 are a cause of erythrokeratodermia variabilis (EKV) [MIM:133200]. EKV is 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
  • Defects in GJB3 are the cause of deafness autosomal dominant type 2B (DFNA2B) [MIM:612644]. DFNA2 is a form of
    • 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

    20/22 diseases for GJB3 (see all 22):    About MalaCards
    erythrokeratodermia variabilis    peripheral neuropathy    erythrokeratodermia variabilis et progressiva    deafness, autosomal dominant, with peripheral neuropathy
    enlarged vestibular aqueduct    deafness, autosomal dominant 2b    neuropathy    hearing loss
    sensorineural hearing loss    kid syndrome    nonsyndromic deafness    pseudoainhum
    erythrokeratoderma    clouston syndrome    keratoderma    ectodermal dysplasia
    neuronitis    skin disease    hypotrichosis    ichthyosis

    5 diseases from the University of Copenhagen DISEASES database for GJB3:
    Nonsyndromic deafness     Sensorineural hearing loss     Skin disease     Enlarged vestibular aqueduct
    Clouston syndrome

    8 Novoseek 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

    Publications
    for GJB3 gene

    (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 112):
    (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. The spectrum of mutations in erythrokeratodermias -- novel and de novo mutations in GJB3. (PubMed id 10798362)1, 2, 9 Richard G.... Uitto J. (2000)
    6. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. (PubMed id 9843209)1, 2, 9 Richard G.... Bale S.J. (1998)
    7. 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)
    8. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. (PubMed id 10757647)1, 2, 9 Kelsell D.P....Leigh I.M. (2000)
    9. Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. (PubMed id 10594760)1, 2, 9 Wilgoss A.... Kelsell D.P. (1999)
    10. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)

    External Searches for GJB3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing GJB3 gene

    (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

    Other Databases showing GJB3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GJB3 gene

    (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

    Intellectual Property
    for GJB3 gene

    (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:
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