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GJB4 Gene

protein-coding   GIFtS: 56
GCID: GC01P035225

Gap Junction Protein, Beta 4, 30.3kDa

(Previous names: gap junction protein, beta 4 (connexin 30.3), gap junction...)
  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 4, 30.3kDa1 2     EKV2
Connexin 30.31 2     connexin-30.32
CX30.32 5     Gap Junction Beta-4 Protein2
Gap Junction Protein, Beta 41     Connexin-30.33
Gap Junction Protein, Beta 4 (Connexin 30.3)1     Cx30.33

External Ids:    HGNC: 42861   Entrez Gene: 1275342   Ensembl: ENSG000001894337   OMIM: 6054255   UniProtKB: Q9NTQ93   

Export aliases for GJB4 gene to outside databases

Previous GC identifers: GC01U990071 GC01P034281 GC01P034651 GC00M9U0070 GC01P034894 GC01P034997 GC01P034999 GC01P033342


(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 GJB4 Gene:
This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene
have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing
impairment. (provided by RefSeq, Dec 2009)

GeneCards Summary for GJB4 Gene:
GJB4 (gap junction protein, beta 4, 30.3kDa) is a protein-coding gene. Diseases associated with GJB4 include gjb4-related erythrokeratodermia variabilis, and keratoderma palmoplantaris transgrediens. GO annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot: CXB4_HUMAN, Q9NTQ9
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 GJB4 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 GJB4 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 GJB4 gene promoter:
         Max1   NF-1   NF-1/L   AP-2gamma   AP-2beta   AP-2alpha   c-Myc   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGJB4 promoter sequence
   Search Chromatin IP Primers for GJB4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GJB4


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

Entrez Gene cytogenetic band: 1p34.3   Ensembl cytogenetic band:  1p34.3   HGNC cytogenetic band: 1p35-p34

GJB4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GJB4 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P035225:  view genomic region     (about GC identifiers)

Start:
35,225,342 bp from pter      End:
35,229,325 bp from pter
Size:
3,984 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: CXB4_HUMAN, Q9NTQ9 (See protein sequence)
Recommended Name: Gap junction beta-4 protein  
Size: 266 amino acids; 30419 Da
Subunit: A connexon is composed of a hexamer of connexins
Secondary accessions: B3KQ82

Explore the universe of human proteins at neXtProt for GJB4: NX_Q9NTQ9

Explore proteomics data for GJB4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GJB4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_694944.1  
    ENSEMBL proteins: 
     ENSP00000345868  
    Reactome Protein details: Q9NTQ9

    GJB4 Human Recombinant Protein Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GJ: Ion channels / Gap junction proteins (connexins)

    IUPHAR Guide to PHARMACOLOGY protein family classification: Cx30.3
    Connexins and Pannexins

    5 InterPro protein domains:
     IPR000500 Connexin
     IPR019570 Connexin_CCC
     IPR013092 Connexin_N
     IPR002271 Connexin303
     IPR017990 Connexin_CS

    Graphical View of Domain Structure for InterPro Entry Q9NTQ9

    ProtoNet protein and cluster: Q9NTQ9

    2 Blocks protein domains:
    IPB002271 Gap junction beta-5 protein (Cx30.3) signature
    IPB013092 Connexin


    UniProtKB/Swiss-Prot: CXB4_HUMAN, Q9NTQ9
    Similarity: Belongs to the connexin family. Beta-type (group I) subfamily


    GJB4 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: CXB4_HUMAN, Q9NTQ9
    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

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005243gap junction channel activity ----
         
    GJB4 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Gjb4):
     taste/olfaction 

    GJB4 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GJB4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GJB4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GJB4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GJB4

    miRNA
    Products:
        
    miRTarBase miRNAs that target GJB4:
    hsa-mir-335-5p (MIRT018522)

    Block miRNA regulation of human, mouse, rat GJB4 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate GJB4:
    hsa-miR-492 hsa-miR-1260b hsa-miR-4252 hsa-miR-1914 hsa-miR-1260 hsa-miR-3153 hsa-miR-1279
    SwitchGear 3'UTR luciferase reporter plasmidGJB4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GJB4
    Predesigned siRNA for gene silencing in human, mouse, rat GJB4

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for GJB4

    Clone
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    GenScript: all cDNA clones in your preferred vector: GJB4 (NM_153212)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GJB4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJB4

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    Browse ESI BIO Cell Lines and PureStem Progenitors for GJB4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJB4


    (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
    CXB4_HUMAN, Q9NTQ9: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular1
    lysosome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005921gap junction ----
    GO:0005922connexon complex IEA--
    GO:0016021integral component of membrane IEA--

    GJB4 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 GJB4 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for GJB4
        Signaling in Gap Junctions

    1 BioSystems Pathway for GJB4
        Calcium Regulation in the Cardiac Cell

    1 Reactome Pathway for GJB4
        Gap junction assembly



    GJB4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GJB4: 
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GJB4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for GJB4 (ENSP000003458684) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000237112ENSP000004112864STRING: ENSP00000411286
    GJA10ENSP000003583584STRING: ENSP00000358358
    GJA3ENSP000002411254STRING: ENSP00000241125
    GJA4ENSP000003436764STRING: ENSP00000343676
    GJA5ENSP000002713484STRING: ENSP00000271348
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007154cell communication IEA--
    GO:0007608sensory perception of smell IEA--
    GO:0042048olfactory behavior IEA--

    GJB4 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 GJB4 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 GJB4 (Cx30.3)    About this table
    LigandTypeActionAffinityPubmed IDs
    flufenamic acid
    InhibitorNone--
    octanol
    InhibitorNone--
    Ca2+
    InhibitorNone--
    carbenoxolone
    InhibitorNone--



    (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 GJB4 gene: 
    NM_153212.2  

    Unigene Cluster for GJB4:

    Gap junction protein, beta 4, 30.3kDa
    Hs.351203  [show with all ESTs]
    Unigene Representative Sequence: AK057628
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000339480(uc001bxv.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat GJB4 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate GJB4:
    hsa-miR-492 hsa-miR-1260b hsa-miR-4252 hsa-miR-1914 hsa-miR-1260 hsa-miR-3153 hsa-miR-1279
    SwitchGear 3'UTR luciferase reporter plasmidGJB4 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for GJB4
    Predesigned siRNA for gene silencing in human, mouse, rat GJB4
    Clone
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    OriGene clones in human, mouse for GJB4 (see all 5)
    OriGene ORF clones in mouse, rat for GJB4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GJB4 (NM_153212)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GJB4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJB4
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for GJB4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GJB4
      QuantiTect SYBR Green Assays in human, mouse, rat GJB4
      QuantiFast Probe-based Assays in human, mouse, rat GJB4

    Additional mRNA sequence: 

    AK057628.1 BC034709.1 

    1 DOTS entry:

    DT.91806925 

    6 AceView cDNA sequences:

    BX284064 NM_153212 AK057628 BC034709 BG675316 BV185487 

    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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    GJB4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGCCACCCA
    GJB4 Expression
    About this image


    GJB4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Inner Cell Mass (Early Embryonic Tissues)
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
    GJB4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GJB4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.351203
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GJB4: 
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for GJB4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GJB4
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJB4

    (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 GJB4 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gjb41 , 5 gap junction protein, beta 41, 5 83.21(n)1
    86.47(a)1
      4 (61.51 cM)5
    146211  NM_008127.41  NP_032153.11 
     1273510865 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004863311 gap junction beta-5 protein-like 64.19(n)
    64.19(a)
      100486331  XM_004911609.1  XP_004911666.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cx34.41 connexin 34.4 63.72(n)
    63.05(a)
      404727  NM_001130636.1  NP_001124108.1 


    ENSEMBL Gene Tree for GJB4 (if available)
    TreeFam Gene Tree for GJB4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GJB4 gene
    GJB32  GJA102  GJD32  GJB62  GJB22  GJB72  GJA42  GJB52  
    GJA12  GJC12  GJC22  GJA52  GJD22  GJA32  GJA92  GJA82  
    GJB12  
    17 SIMAP similar genes for GJB4 using alignment to 1 protein entry:     CXB4_HUMAN:
    GJB5    GJB2    GJB1    GJB7    GJB3    GJB6
    GJA8    GJA4    GJA1    GJA10    GJC3    GJA3
    GJA5    GJA9    GJD3    GJC1    GJD4

    GJB4 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 GJB4 (see all 251)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0102064
    Erythrokeratodermia variabilis (EKV)4--see VAR_0102062 F L mis40--------
    rs803582111,2
    Cpathogenic135308478(+) GAGTGA/GCGTGA 2 D G mis10--------
    rs803582121,2
    Cpathogenic135308508(+) GAGCCG/ACATCT 2 /H /R mis11Minor allele frequency- A:0.00EU 1319
    rs803582101,2
    Cpathogenic135308696(+) TGGTCA/CCGTGC 2 T P mis10--------
    rs803582131,2
    Cpathogenic135309009(+) CTACTA/TCATGG 2 Y F mis10--------
    rs803582071,2
    Cuntested135308852(+) TCATCC/TTCAAG 2 L F mis10--------
    rs803582061,2
    Cuntested135308854(+) ATCTTA/CAAGGC 2 L F mis10--------
    rs37383451,2
    C,F,H--35304933(+) TTCAAG/AGCGAG 1 -- us2k138Minor allele frequency- A:0.26EA NA NS WA EU 10585
    rs1844403851,2
    C--35304949(+) ACATCA/GCCTTT 1 -- us2k10--------
    rs1896695971,2
    C--35304996(+) CTCCCG/TCCTGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GJB4 (35225342 - 35229325 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for GJB4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv870700CNV Loss21882294

    Human Gene Mutation Database (HGMD): GJB4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GJB4
    DNA2.0 Custom Variant and Variant Library Synthesis for GJB4

    (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: 605425   
    OMIM disorders: 133200  
    UniProtKB/Swiss-Prot: CXB4_HUMAN, Q9NTQ9
  • 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

  • 20 diseases for GJB4:    
    About MalaCards
    gjb4-related erythrokeratodermia variabilis    keratoderma palmoplantaris transgrediens    pseudoainhum    erythrokeratodermia variabilis
    erythrokeratodermia variabilis et progressiva    clouston syndrome    hypotrichosis-deafness syndrome    kid syndrome
    entropion    peripheral neuropathy    congenital ichthyosiform erythroderma    hypotrichosis
    skin disease    keratoderma    ectodermal dysplasia    neuropathy
    neuronitis    kidney disease    multiple myeloma    myeloma

    3 diseases from the University of Copenhagen DISEASES database for GJB4:
    Skin disease     Congenital ichthyosiform erythroderma     Clouston syndrome

    GJB4 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for GJB4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    erythrokeratodermia variabilis 98 6 12648223 (4), 14583444 (1), 16280295 (1)
    skin diseases 59 5 16297190 (1), 11933201 (1), 19283857 (1)

    Genetic Association Database (GAD): GJB4
    Human Genome Epidemiology (HuGE) Navigator: GJB4 (4 documents)

    Export disorders for GJB4 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 GJB4 gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with GJB4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A common frameshift mutation and other variants in GJB4 (connexin 30.3): analysis of hearing impairment families. (PubMed id 11933201)1, 2, 9 Lopez-Bigas N.... Estivill X. (Hum. Mutat. 2002)
    2. Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation. (PubMed id 20593197)1, 4 Yang J.J....Li S.Y. (Hum. Genet. 2010)
    3. Association of genetic variants with chronic kidney disease in individuals with different lipid profiles. (PubMed id 19578796)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2009)
    4. Analysis of gene polymorphisms associated with K ion circulation in the inner ear of patients susceptible and resistant to noise-induced hearing loss. (PubMed id 19523148)1, 4 Pawelczyk M....Sliwinska-Kowalska M. (Ann. Hum. Genet. 2009)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. (PubMed id 11017804)1, 2 Macari F.... Huber M. (Am. J. Hum. Genet. 2000)
    9. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. (PubMed id 12648223)1, 9 Richard G....Uitto J. (J. Invest. Dermatol. 2003)
    10. Clinical and genetic heterogeneity of erythrokeratoderma variabilis. (PubMed id 16297190)1, 9 Common J.E....Kelsell D.P. (J. Invest. Dermatol. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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    OMIM
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      (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: 127534 HGNC: 4286 AceView: GJB4 Ensembl:ENSG00000189433 euGenes: HUgn127534
    ECgene: GJB4 H-InvDB: GJB4

    (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 GJB4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GJB4[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 GJB4 gene:
    Search GeneIP for patents involving GJB4

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



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