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GJC3 Gene

protein-coding   GIFtS: 49
GCID: GC07M099520

Gap Junction Protein, Gamma 3, 30.2kDa

(Previous names: gap junction protein, epsilon 1, 29kDa)
(Previous symbol: GJE1)
  See GJC3-related disease
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, Gamma 3, 30.2kDa1 2     Connexin 292
GJE11 2 3     connexin-30.22
Gap Junction Epsilon-1 Protein2 3     connexin-31.32
CX30.22 5     Gap Junction Gamma-3 Protein2
CX31.32 5     Connexin-30.23
Connexin 30.21     Connexin-31.33
Gap Junction Protein, Epsilon 1, 29kDa1     Cx30.23
CX292     Cx31.33

External Ids:    HGNC: 174951   Entrez Gene: 3491492   Ensembl: ENSG000001764027   OMIM: 6119255   UniProtKB: Q8NFK13   

Export aliases for GJC3 gene to outside databases

Previous GC identifers: GC07M099360 GC07M094156


(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 GJC3 Gene:
This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation
of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been
reported to be associated with nonsyndromic hearing loss.(provided by RefSeq, Feb 2010)

GeneCards Summary for GJC3 Gene:
GJC3 (gap junction protein, gamma 3, 30.2kDa) is a protein-coding gene. Diseases associated with GJC3 include peripheral neuropathy. GO annotations related to this gene include protein homodimerization activity. An important paralog of this gene is GJD4.

UniProtKB/Swiss-Prot: CXG3_HUMAN, Q8NFK1
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 (By similarity)

summary for GJC3 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 GJC3 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_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GJC3 gene promoter:
         HFH-3   TBP   SRF   Max1   Spz1   SRF (504 AA)   CP2   FOXJ2 (long isoform)   FOXJ2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GJC3 promoter sequence
   Search Chromatin IP Primers for GJC3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GJC3


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

Entrez Gene cytogenetic band: 7q22.1   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q22.1

GJC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GJC3 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M099520:  view genomic region     (about GC identifiers)

Start:
99,520,892 bp from pter      End:
99,527,243 bp from pter
Size:
6,352 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 98,881,013-98,887,364     

(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: CXG3_HUMAN, Q8NFK1 (See protein sequence)
Recommended Name: Gap junction gamma-3 protein  
Size: 279 amino acids; 31299 Da
Subunit: A connexon is composed of a hexamer of connexins (By similarity)
Secondary accessions: A4D296 Q86XI9

Explore the universe of human proteins at neXtProt for GJC3: NX_Q8NFK1

Explore proteomics data for GJC3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GJC3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_853516.1  
    ENSEMBL proteins: 
     ENSP00000325775  

    GJC3 Human Recombinant Protein Products:

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    LSBio Antibodies in human, mouse, rat for GJC3

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    Search eBioscience for ELISAs for GJC3 


    (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: Cx30.2
    Connexins and Pannexins

    4 InterPro protein domains:
     IPR000500 Connexin
     IPR019570 Connexin_CCC
     IPR013092 Connexin_N
     IPR017990 Connexin_CS

    Graphical View of Domain Structure for InterPro Entry Q8NFK1

    ProtoNet protein and cluster: Q8NFK1

    1 Blocks protein domain: IPB013092 Connexin

    UniProtKB/Swiss-Prot: CXG3_HUMAN, Q8NFK1
    Similarity: Belongs to the connexin family. Gamma-type subfamily


    Find genes that share domains with GJC3           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: CXG3_HUMAN, Q8NFK1
    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 (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042803protein homodimerization activity IEA--
         
    Find genes that share ontologies with GJC3           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gjc3):
     hearing/vestibular/ear  nervous system  vision/eye 

    Find genes that share phenotypes with GJC3           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GJC3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GJC3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GJC3

    miRNA
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    miRTarBase miRNAs that target GJC3:
    hsa-mir-132-3p (MIRT021835)

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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJC3


    (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
    CXG3_HUMAN, Q8NFK1: Cell membrane; Multi-pass membrane protein (By similarity). Cell junction, gap junction (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005922connexon complex IEA--
    GO:0016021integral component of membrane IEA--
    GO:0043209myelin sheath IEA--

    Find genes that share ontologies with GJC3           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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    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for GJC3
        Signaling in Gap Junctions


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GJC3
    Interactions:

        Search GeneGlobe Interaction Network for GJC3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for GJC3 (ENSP000003257754) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GJA1ENSP000002825614STRING: ENSP00000282561
    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:0007605sensory perception of sound IEA--
    GO:0042552myelination IEA--

    Find genes that share ontologies with GJC3           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
      Browse compounds at ApexBio 

    Compounds for GJC3 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 GJC3 (Cx30.2)    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,
    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 GJC3 gene: 
    NM_181538.2  

    Unigene Cluster for GJC3:

    Gap junction protein, gamma 3, 30.2kDa
    Hs.647524  [show with all ESTs]
    Unigene Representative Sequence: NM_181538
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000312891(uc011kjd.2)
    miRNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJC3
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for GJC3
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat GJC3
      QuantiTect SYBR Green Assays in human, mouse, rat GJC3
      QuantiFast Probe-based Assays in human, mouse, rat GJC3

    Additional mRNA sequence: 

    AF503615.1 AY297109.1 BC038207.1 BC038208.1 BC043381.1 

    1 DOTS entry:

    DT.75175972 

    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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    GJC3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGCACCAT
    GJC3 Expression
    About this image


    GJC3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Placenta (Extraembryonic Tissues)
             Hofbauer Cells Chorionic Villus
     
     Chorion (Extraembryonic Tissues)
             Hofbauer Cells Chorionic Villus
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             Oligodendrocyte-like cells
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Oligodendrocyte-like cells
     
     Oligodendrocytes (Nervous System)    fully expand to see all 2 entries
             Oligodendrocyte-like cells
    GJC3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GJC3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.647524

    UniProtKB/Swiss-Prot: CXG3_HUMAN, Q8NFK1
    Tissue specificity: CNS specific. Expression is restricted to brain, spinal cord, and sciatic nerve. According to
    PubMed:12881038, expression is abundant in skeletal muscle, liver, and heart, and to a minor degree in pancreas
    and kidney

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    In Situ
    Assay Products:
     

     
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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 GJC3 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gjc31 , 5 gap junction protein, gamma 31, 5 74.84(n)1
    66.15(a)1
      5 (76.91 cM)5
    1184461  NM_080450.41  NP_536698.21 
     1379538095 
    lizard
    (Anolis carolinensis)
    Reptilia GJC36
    gap junction protein, gamma 3, 30.2kDa
    39(a)
    1 ↔ 1
    3(187269410-187269814)


    ENSEMBL Gene Tree for GJC3 (if available)
    TreeFam Gene Tree for GJC3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GJC3 gene
    GJD42  
    9 SIMAP similar genes for GJC3 using alignment to 1 protein entry:     CXG3_HUMAN:
    GJC1    GJB1    GJB2    GJB6    GJB4    GJB7
    GJA4    GJB5    GJA9

    Find genes that share paralogs with GJC3           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for GJC3
    PGOHUM00000233493


    (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 GJC3 (see all 190)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219086931,2
    Cuntested1102830650(-) GACCAA/C/TTTTCC 2 N I mis10--------
    rs566777641,2
    C--98882773(+) GTAGT-/AGGGGGAA 1 -- int10--------
    rs349467011,2
    C--98888806(+) ATTTCT/-TTTTT 1 -- us2k11Minor allele frequency- -:0.50NA 2
    rs1412271331,2
    --102824373(+) AGCAGA/GATAAA 1 -- ds50010--------
    rs1815417811,2
    --102824468(+) GCCCAA/GCATCT 1 -- ds50010--------
    rs1165849151,2
    C,F--102824518(+) TTTCTT/CACTTC 1 -- ds50011Minor allele frequency- C:0.01WA 118
    rs744122071,2
    C,F--102824533(+) AGATAT/CAGCCT 1 -- ds50012Minor allele frequency- C:0.06WA NA 238
    rs25279081,2
    C,F,O,H--102824541(-) TGAAGC/TGAAGG 1 -- ds500128Minor allele frequency- T:0.28NS EA NA WA CSA 2626
    rs1473815341,2
    C--102824594(+) GGTTCC/TATTTT 1 -- ds50010--------
    rs1846324791,2
    --102824603(+) TTACCC/TCCATC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for GJC3 (99520892 - 99527243 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for GJC3: --
    Human Gene Mutation Database (HGMD): GJC3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GJC3
    DNA2.0 Custom Variant and Variant Library Synthesis for GJC3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611925    OMIM disorders: --

    1 disease for GJC3:    
    About MalaCards
    peripheral neuropathy

    2 diseases from the University of Copenhagen DISEASES database for GJC3:
    Nonsyndromic deafness     Charcot-Marie-Tooth disease

    Find genes that share disorders with GJC3           About GenesLikeMe

    Genetic Association Database (GAD): GJC3
    Human Genome Epidemiology (HuGE) Navigator: GJC3 (2 documents)

    Export disorders for GJC3 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 GJC3 gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with GJC3)
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    1. Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems. (PubMed id 12151525)1, 2, 9 Altevogt B.M.... Paul D.L. (J. Neurosci. 2002)
    2. Mutations in the connexin 29 gene are not a major cause of nonsyndromic hearing impairment in India. (PubMed id 20632892)1, 4 Ramchander P.V....Panda A.K. (Genet Test Mol Biomarkers 2010)
    3. 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)
    4. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    5. Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues. (PubMed id 12881038)1, 2 Soehl G.... Willecke K. (Cell Commun. Adhes. 2003)
    6. Identification of novel variants in the Cx29 gene of nonsyndromic hearing loss patients using buccal cells and restriction fragment length polymorphism method. (PubMed id 19657183)1, 9 Wang W.H....Li S.Y. (amp 2010)
    7. A novel mutation in the connexin 29 gene may contribute to nonsyndromic hearing loss. (PubMed id 19876648)1, 9 Hong H.M....Li S.Y. (Hum. Genet. 2010)
    8. Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants. (PubMed id 18353664)1, 9 Sargiannidou I....Kleopa K.A. (Neurobiol. Dis. 2008)
    9. Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes. (PubMed id 15293232)1, 9 Kleopa K.A....Scherer S.S. (Glia 2004)
    10. Mechanism of two novel human GJC3 missense mutations in causing non-syndromic hearing loss. (PubMed id 23179405)1 Su C.C....Yang J.J. (Cell Biochem. Biophys. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 349149 HGNC: 17495 Ensembl:ENSG00000176402 euGenes: HUgn349149 ECgene: GJC3
    H-InvDB: GJC3

    (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 GJC3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GJC3 gene:
    Search GeneIP for patents involving GJC3

    GeneCards and IP:
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