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GJB1 Gene

protein-coding   GIFtS: 66
GCID: GC0XP070435

Gap Junction Protein, Beta 1, 32kDa

(Previous names: gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth...)
(Previous symbols: CMTX1, CMTX)
  See GJB1-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 1, 32kDa1 2     Gap Junction Protein, Beta 1, 32kD (Connexin 32, Charcot-Marie-Tooth
Neuropathy, X-Linked)1
CMTX11 2 5     Gap Junction Protein, Beta 1, 32kDa (Connexin 32)1
CX322 3 5     Gap Junction Protein, Beta 1, 32kDa (Connexin 32, Charcot-Marie-Tooth
Neuropathy, X-Linked)1
CMTX1 2     connexin-322
Connexin 321 2     Gap Junction Beta-1 Protein2
GAP Junction 28 KDa Liver Protein2 3     Connexin-323
X-linked1     Cx323
Charcot-Marie-Tooth Neuropathy1     

External Ids:    HGNC: 42831   Entrez Gene: 27052   Ensembl: ENSG000001695627   OMIM: 3040405   UniProtKB: P080343   

Export aliases for GJB1 gene to outside databases

Previous GC identifers: GC0XP066608 GC0XP067912 GC0XP068668 GC0XP069301 GC0XP070218 GC0XP070351 GC0XP064252


(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 GJB1 Gene:
This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning
proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules
between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction
proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked
Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants
encoding the same protein have been found for this gene. (provided by RefSeq, Oct 2008)

GeneCards Summary for GJB1 Gene:
GJB1 (gap junction protein, beta 1, 32kDa) is a protein-coding gene. Diseases associated with GJB1 include charcot-marie-tooth neuropathy, x-linked dominant, 1, and inherited peripheral neuropathy. GO annotations related to this gene include gap junction channel activity and protein homodimerization activity. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot: CXB1_HUMAN, P08034
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 GJB1 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 GJB1 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 at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011651.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the GJB1 gene promoter:
         p53   SEF-1 (1)   CP1A   CP1C   MRF-2   FOXL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGJB1 promoter sequence
   Search Chromatin IP Primers for GJB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GJB1


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

Entrez Gene cytogenetic band: Xq13.1   Ensembl cytogenetic band:  Xq13.1   HGNC cytogenetic band: Xq13.1

GJB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GJB1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP070435:  view genomic region     (about GC identifiers)

Start:
70,435,044 bp from pter      End:
70,445,366 bp from pter
Size:
10,323 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CXB1_HUMAN, P08034 (See protein sequence)
Recommended Name: Gap junction beta-1 protein  
Size: 283 amino acids; 32025 Da
Subunit: A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity)
1 PDB 3D structure from and Proteopedia for GJB1:
1TXH (3D)    
Secondary accessions: B2R8R2 D3DVV2 Q5U0S4

Explore the universe of human proteins at neXtProt for GJB1: NX_P08034

Explore proteomics data for GJB1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GJB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000157.1  NP_001091111.1  

    ENSEMBL proteins: 
     ENSP00000363141   ENSP00000363134   ENSP00000407223   ENSP00000354900  
    Reactome Protein details: P08034

    GJB1 Human Recombinant Protein Products:

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    Novus Biologicals GJB1 Proteins
    Novus Biologicals GJB1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for GJB1 

    GJB1 Antibody Products:

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    GJB1 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for GJB1 


    (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: Cx32
    Connexins and Pannexins

    5 InterPro protein domains:
     IPR000500 Connexin
     IPR019570 Connexin_CCC
     IPR013092 Connexin_N
     IPR002267 Connexin32
     IPR017990 Connexin_CS

    Graphical View of Domain Structure for InterPro Entry P08034

    ProtoNet protein and cluster: P08034

    2 Blocks protein domains:
    IPB002267 Gap junction beta-1 protein (Cx32) signature
    IPB013092 Connexin


    UniProtKB/Swiss-Prot: CXB1_HUMAN, P08034
    Similarity: Belongs to the connexin family. Beta-type (group I) subfamily


    Find genes that share domains with GJB1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CXB1_HUMAN, P08034
    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 GJB1:
    gap junction protein,beta 1,32kDa,expressed in liver,thyroid,peripheral nervous sytem,connexin 32,monomer of the
    connexon (six subunits including GJA3,GJA8,GJB1,GJB2),phosphorylated by EGFR,involved in the auditory pathway and
    in interactions axon Schwann cell with defective interaction,potentially inducing axonopathy in CMTX1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005243gap junction channel activity IEA--
    GO:0042803protein homodimerization activity IEA--
         
    Find genes that share ontologies with GJB1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for GJB1:
     Decreased POU5F1-GFP protein e  Increased gamma-H2AX phosphory 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gjb1):
     behavior/neurological  growth/size/body  homeostasis/metabolism  liver/biliary system  mortality/aging 
     nervous system  vision/eye 

    Find genes that share phenotypes with GJB1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Gjb1tm1Kwi for GJB1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GJB1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GJB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GJB1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GJB1

    miRNA
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    miRTarBase miRNAs that target GJB1:
    hsa-mir-335-5p (MIRT018652)

    Block miRNA regulation of human, mouse, rat GJB1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GJB1 (see all 10):
    hsa-miR-3607-3p hsa-miR-3660 hsa-miR-3142 hsa-miR-661 hsa-miR-3116 hsa-miR-508-5p hsa-miR-205* hsa-miR-1183
    SwitchGear 3'UTR luciferase reporter plasmidGJB1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GJB1
    Predesigned siRNA for gene silencing in human, mouse, rat GJB1

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for GJB1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): GJB1 (NM_001097642)
    Sino Biological Human cDNA Clone for GJB1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GJB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJB1

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    Browse ESI BIO Cell Lines and PureStem Progenitors for GJB1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJB1


    (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
    CXB1_HUMAN, P08034: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum4
    cytoskeleton2
    golgi apparatus2
    cytosol1
    extracellular1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005886plasma membrane ----
    GO:0005921gap junction ----

    Find genes that share ontologies with GJB1           About GenesLikeMe


    (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 GJB1 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Gap junction trafficking
    Gap junction trafficking0.93
    Gap junction assembly0.00
    Gap junction trafficking and regulation0.93
    2Oligomerization of connexins into connexons
    Oligomerization of connexins into connexons
    Transport of connexins along the secretory pathway0.00
    3Myometrial Relaxation and Contraction Pathways
    Calcium Regulation in the Cardiac Cell0.43
    4Potassium Channels
    Potassium transporters outward current0.41
    5Clathrin derived vesicle budding
    Membrane Trafficking0.32


    Find genes that share SuperPaths with GJB1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for GJB1
        Signaling in Gap Junctions

    1 GeneGo (Thomson Reuters) Pathway for GJB1
        Cell adhesion Gap junctions

    2 BioSystems Pathways for GJB1
        Calcium Regulation in the Cardiac Cell
    Neural Crest Differentiation


    3 Reactome Pathways for GJB1
        Gap junction assembly
    Transport of connexins along the secretory pathway
    Oligomerization of connexins into connexons


        Pathway & Disease-focused RT2 Profiler PCR Arrays including GJB1: 
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat
              Stem Cells in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GJB1

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

    Selected Interacting proteins for GJB1 (P080343 ENSP000003549004) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=2 STRING: ENSP00000349467
    CALM2P621583I2D: score=2 
    CALM3P621583I2D: score=2 
    PRKACAP176123, ENSP000003095914I2D: score=2 STRING: ENSP00000309591
    CAV1Q031353, ENSP000003391914I2D: score=1 STRING: ENSP00000339191
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS2875078
    GO:0007154cell communication ----
    GO:0007267cell-cell signaling TAS8266101
    GO:0007399nervous system development TAS8266101
    GO:0015868purine ribonucleotide transport IEA--

    Find genes that share ontologies with GJB1           About GenesLikeMe



    (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
    5 ApexBio Compounds for GJB1     About this table
    CompoundAction CAS #
    10PanxPanx-1 mimetic inhibitory peptide, blocks pannexin-1 gap junctions[955091-53-9]
    Gap 26Gap junction blocker peptide, mapping to connexin 43 residue 63-75[197250-15-0]
    Gap 27Gap junction blocker peptide[198284-64-9]
    GAP-134 Hydrochloridealter conduction pathways and promote cardiac re-entry mechanisms[943134-39-2]
    Scrambled 10PanxPanx-1 mimetic inhibitory peptide, blocks pannexin-1 gap junctions[1315378-72-3]

    Compounds for GJB1 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 GJB1 (Cx32)    About this table
    LigandTypeActionAffinityPubmed IDs
    flufenamic acid
    InhibitorNone--
    octanol
    InhibitorNone--
    Ca2+
    InhibitorNone--
    carbenoxolone
    InhibitorNone--

    Selected Novoseek inferred chemical compound relationships for GJB1 gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cx38 78 50 8944659 (6), 8927500 (4), 10671312 (1)
    forskolin 2.56 3 17546509 (1), 11816015 (1)
    atp 0 3 11180621 (1), 16341088 (1)
    asparagine 0 6 15798904 (1), 10871637 (1)
    calcium 0 5 14663144 (3), 9570005 (1), 9792698 (1)
    progesterone 0 1 9389559 (1)
    tyrosine 0 3 1966893 (1), 7486696 (1), 12717835 (1)
    potassium 0 1 10561689 (1)
    gaba 0 2 12859682 (1)
    estrogen 0 1 11145599 (1)



    Find genes that share compounds with GJB1           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GJB1 gene (2 alternative transcripts): 
    NM_000166.5  NM_001097642.2  

    Unigene Cluster for GJB1:

    Gap junction protein, beta 1, 32kDa
    Hs.333303  [show with all ESTs]
    Unigene Representative Sequence: NM_000166
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374029 ENST00000374022(uc004dzf.3) ENST00000447581 ENST00000361726(uc004dzg.3)

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    hsa-miR-3607-3p hsa-miR-3660 hsa-miR-3142 hsa-miR-661 hsa-miR-3116 hsa-miR-508-5p hsa-miR-205* hsa-miR-1183
    SwitchGear 3'UTR luciferase reporter plasmidGJB1 3' UTR sequence
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GJB1
      QuantiTect SYBR Green Assays in human, mouse, rat GJB1
      QuantiFast Probe-based Assays in human, mouse, rat GJB1

    Additional mRNA sequence: 

    AK313474.1 BC002805.1 BC022426.1 BC039198.1 BT019329.1 X04325.1 

    6 DOTS entries:

    DT.212245  DT.92435522  DT.121320894  DT.92435521  DT.92435524  DT.95086776 

    Selected AceView cDNA sequences (see all 133):

    AI492172 AI673139 AI572468 BM547660 AI969580 BU172708 AW469405 CB146570 
    BC002805 BQ425696 BM312973 AI868062 BC039198 BI760541 BE502082 BG574173 
    N62394 BQ422770 CB135186 AI921269 BQ440420 BU189178 BI757366 BX279939 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for GJB1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d
    SP1:                    -                                       
    SP2:                    -           -                           
    SP3:                    -     -     -                           
    SP4:                          -     -                           


    ECgene alternative splicing isoforms for GJB1

    (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)
    About This Section

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    GJB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGGTGGAGA
    GJB1 Expression
    About this image


    GJB1 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
     
     Peripheral Nervous System (Nervous System)
             Myelinating Schwann Cells Peripheral Nerve Domain
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
    GJB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GJB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.333303
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GJB1: 
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat
              Stem Cells in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for GJB1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gjb11 , 5 gap junction protein, beta 11, 5 92.34(n)1
    98.59(a)1
      X (44.06 cM)5
    146181  NM_008124.21  NP_032150.21 
     1013763785 
    chicken
    (Gallus gallus)
    Aves GJB11 gap junction protein, beta 1, 32kDa 79.21(n)
    78.49(a)
      378797  NM_204371.2  NP_989702.1 
    lizard
    (Anolis carolinensis)
    Reptilia GJB16
    gap junction protein, beta 1, 32kDa
    77(a)
    1 ↔ 1
    GL343599.1(187540-188379)
    African clawed frog
    (Xenopus laevis)
    Amphibia gjb1-A-prov2 gap junction protein, beta 1 76.33(n)    Y00791.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cx27.52 connexin 27.5 76.42(n)   114405  BC056546.1 


    ENSEMBL Gene Tree for GJB1 (if available)
    TreeFam Gene Tree for GJB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GJB1 gene
    GJB32  GJA102  GJD32  GJB62  GJB42  GJB22  GJB72  GJA42  
    GJB52  GJA12  GJC12  GJC22  GJA52  GJD22  GJA32  GJA92  
    GJA82  
    15 SIMAP similar genes for GJB1 using alignment to 2 protein entries:     CXB1_HUMAN (see all proteins):
    GJB2    GJB6    GJB3    GJB5    GJB4    GJB7
    GJC1    GJA3    GJA9    GJA1    GJA5    GJA4
    GJD3    GJA8    GJC3

    Find genes that share paralogs with GJB1           About GenesLikeMe



    (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 GJB1 (see all 411)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1998348621,2,,4
    Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)4 --70452162(+) TGCCCA/GCCGAG 4 H R mis10--------
    rs1048948251,2,,4
    C,FCharcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)4 pathogenic170452210(+) GGGCTT/GCGGCC 4 /C /F mis11Minor allele frequency- G:0.00NA 3852
    VAR_0020644
    Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)4--see VAR_0020642 P A mis40--------
    VAR_0299044
    Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)4--see VAR_0299042 M K mis40--------
    VAR_0020784
    Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)4--see VAR_0020782 K N mis40--------
    VAR_0021364
    Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)4--see VAR_0021362 R H mis40--------
    VAR_0299314
    Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)4--see VAR_0299312 A D mis40--------
    VAR_0020344
    Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)4--see VAR_0020342 A P mis40--------
    VAR_0020224
    Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)4--see VAR_0020222 R Q mis40--------
    VAR_0021154
    Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)4--see VAR_0021152 K E mis40--------

    HapMap Linkage Disequilibrium report for GJB1 (70435044 - 70445366 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for GJB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508781CNV Insertion20534489
    esv33082CNV Loss17666407
    esv1584074OTHER Inversion17803354

    Human Gene Mutation Database (HGMD): GJB1
    Locus Specific Mutation Databases (LSDB): GJB1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GJB1
    DNA2.0 Custom Variant and Variant Library Synthesis for GJB1

    (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.)
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    OMIM gene information: 304040   
    OMIM disorders: 302800  
    UniProtKB/Swiss-Prot: CXB1_HUMAN, P08034
  • Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]: A form of Charcot-Marie-Tooth
    disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy,
    initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is
    classified in two main groups on the basis of electrophysiologic properties and histopathology: primary
    peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs)
    (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies
    characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy.
    CMTX1 has both demyelinating and axonal features. Central nervous system involvement may occur. Note=The disease
    is caused by mutations affecting the gene represented in this entry
  • Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe degenerating neuropathy of the demyelinating
    Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy
    with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic
    nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal
    recessive forms of Dejerine-Sottas syndrome. Note=The gene represented in this entry may act as a disease
    modifier

  • Selected diseases for GJB1 (see all 21):    
    About MalaCards
    charcot-marie-tooth neuropathy, x-linked dominant, 1    inherited peripheral neuropathy    neuropathy    x-linked charcot-marie-tooth disease
    charcot-marie-tooth disease type x    charcot-marie-tooth neuropathy x type 1    peripheral neuropathy    sensory neuropathy type 1
    charcot-marie-tooth neuropathy x    spinocerebellar ataxia, x-linked 1    x-linked disease    dejerine-sottas disease, autosomal recessive
    charcot-marie-tooth disease type 1    glycine encephalopathy    hereditary neuropathy with liability to pressure palsies    charcot-marie-tooth neuropathy type 2
    charcot-marie-tooth disease type 3    hereditary ataxia    tooth disease    charcot-marie-tooth disease type 2

    3 diseases from the University of Copenhagen DISEASES database for GJB1:
    Neuropathy     Myopathy     Polyneuropathy

    Find genes that share disorders with GJB1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for GJB1 gene (see all 34)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    charcot-marie-tooth disease 96.5 143 11404117 (4), 10102421 (2), 19691535 (2), 8816997 (2) (see all 84)
    hereditary neuropathy 87.7 13 8800924 (1), 12207932 (1), 17502546 (1), 7706205 (1) (see all 11)
    dejerine-sottas disease 84.1 6 9187667 (1), 10541586 (1), 9488160 (1), 10737979 (1)
    sensory neuropathy 76.1 13 19062535 (2), 15508871 (1), 9541114 (1), 10975746 (1) (see all 7)
    hereditary peripheral neuropathy 73.7 1 10891594 (1)
    dental disorder 63.5 5 11437164 (1), 19193385 (1)
    demyelination 60.8 9 15703409 (2), 9726425 (2), 12151525 (1), 12477701 (1) (see all 6)
    polyneuropathy 48.6 4 19062535 (1), 16476939 (1), 11438177 (1)
    involvement cns 46.9 3 16476939 (1), 12542510 (1), 16051098 (1)
    paralysis 43.3 8 8800924 (1), 17502546 (1), 9187667 (1), 10541586 (1) (see all 6)

    GeneTests: GJB1
    GeneReviews: GJB1
    Genetic Association Database (GAD): GJB1
    Human Genome Epidemiology (HuGE) Navigator: GJB1 (12 documents)

    Export disorders for GJB1 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 GJB1 gene, integrated from 10 sources (see all 424):
    (articles sorted by number of sources associating them with GJB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PubMed id 11835375)1, 2, 4, 9 Boerkoel C.F.... Lupski J.R. (Ann. Neurol. 2002)
    2. Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease. (PubMed id 8829637)1, 2, 4 Tan C.C.... Macleod P.M. (Hum. Mutat. 1996)
    3. Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease. (PubMed id 18379723)1, 4, 9 Mandich P....Bellone E. (J. Hum. Genet. 2008)
    4. Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32. (PubMed id 14627639)1, 2, 9 Abrams C.K.... Sahenk Z. (J. Neurosci. 2003)
    5. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. (PubMed id 12477701)1, 2, 9 Hattori N.... Sobue G. (Brain 2003)
    6. Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. (PubMed id 10737979)1, 2, 9 Mersiyanova I.V....Evgrafov O.V. (Hum. Mutat. 2000)
    7. Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations. (PubMed id 9818870)1, 2, 9 Nicholson G.A.... Corbett A. (Neurology 1998)
    8. Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. (PubMed id 9187667)1, 2, 9 Bort S.... Palau F. (Hum. Genet. 1997)
    9. [Spectrum and frequency of mutations in the connexin 32 gene (GJB1) in hereditary and sensory neuropathy type 1X patients from Bashkortostan]. (PubMed id 19062535)1, 4, 9 Khidiianova I.M....Khusnutdinova E.K. (Genetika 2008)
    10. Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance. (PubMed id 9272161)1, 2, 9 Silander K.... Savontaus M.L. (Hum. Genet. 1997)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2705 HGNC: 4283 AceView: GJB1 Ensembl:ENSG00000169562 euGenes: HUgn2705
    ECgene: GJB1 H-InvDB: GJB1

    (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 GJB1 Pharmacogenomics, SNPs, Pathways
    Inherited peripheral neuropathies mutation dbhttp://www.molgen.ua.ac.be/CMTMutations/
    Connexin-deafness homepagehttp://davinci.crg.es/deafness/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GJB1[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 GJB1 gene:
    Search GeneIP for patents involving GJB1

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



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