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GJC1 Gene

protein-coding   GIFtS: 56
GCID: GC17M042875

Gap Junction Protein, Gamma 1, 45kDa

(Previous names: gap junction protein, alpha 7, 45kDa)
(Previous symbol: GJA7)
  See GJC1-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 1, 45kDa1 2     CX452
GJA71 2 3     connexin-452
Connexin 451 2     Gap Junction Gamma-1 Protein2
Gap Junction Alpha-7 Protein2 3     Connexin-453
Gap Junction Protein, Alpha 7, 45kDa1     Cx453

External Ids:    HGNC: 42801   Entrez Gene: 100522   Ensembl: ENSG000001829637   OMIM: 6086555   UniProtKB: P363833   

Export aliases for GJC1 gene to outside databases

Previous GC identifers: GC17M038013 GC17M040694 GC17M038427 GC17M038892 GC17M038891 GC17M035770 GC17M040237 GC17M038640


(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 GJC1 Gene:
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are
composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight
materials from cell to cell. Alternatively spliced transcript variants encoding the same isoform have been
described. (provided by RefSeq, Jul 2008)

GeneCards Summary for GJC1 Gene:
GJC1 (gap junction protein, gamma 1, 45kDa) is a protein-coding gene. Diseases associated with GJC1 include cystic fibrosis. GO annotations related to this gene include ion channel activity and gap junction channel activity. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot: CXG1_HUMAN, P36383
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 GJC1 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 GJC1 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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Regulatory elements:
   Regulatory transcription factor binding sites in the GJC1 gene promoter:
         Ik-2   AML1a   HOXA5   AP-4   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGJC1 promoter sequence
   Search Chromatin IP Primers for GJC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GJC1


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

Entrez Gene cytogenetic band: 17q21.31   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q21.31

GJC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GJC1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M042875:  view genomic region     (about GC identifiers)

Start:
42,875,816 bp from pter      End:
42,908,184 bp from pter
Size:
32,369 bases      Orientation:
minus 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: CXG1_HUMAN, P36383 (See protein sequence)
Recommended Name: Gap junction gamma-1 protein  
Size: 396 amino acids; 45470 Da
Subunit: A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity)
1 PDB 3D structure from and Proteopedia for GJC1:
3SHW (3D)    
Secondary accessions: B3KW68 Q4VAY0

Explore the universe of human proteins at neXtProt for GJC1: NX_P36383

Explore proteomics data for GJC1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GJC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001073852.1  NP_005488.2  

    ENSEMBL proteins: 
     ENSP00000468716   ENSP00000333193   ENSP00000468258   ENSP00000466339   ENSP00000467201  
     ENSP00000466392   ENSP00000467626   ENSP00000467090   ENSP00000411528  
    Reactome Protein details: P36383

    GJC1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for GJC1

     
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    GJC1 Assay Products:

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    Cloud-Clone Corp. ELISAs for GJC1
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    Search eBioscience for ELISAs for GJC1 


    (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: Cx45
    Connexins and Pannexins

    5 InterPro protein domains:
     IPR000500 Connexin
     IPR019570 Connexin_CCC
     IPR013092 Connexin_N
     IPR002265 Connexin45
     IPR017990 Connexin_CS

    Graphical View of Domain Structure for InterPro Entry P36383

    ProtoNet protein and cluster: P36383

    2 Blocks protein domains:
    IPB002265 Gap junction alpha-6 protein (Cx45) signature
    IPB013092 Connexin


    UniProtKB/Swiss-Prot: CXG1_HUMAN, P36383
    Similarity: Belongs to the connexin family. Gamma-type subfamily


    Find genes that share domains with GJC1           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: CXG1_HUMAN, P36383
    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): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity IEA--
    GO:0005243gap junction channel activity IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with GJC1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for GJC1:
     Increased number of cells in m 

         11 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Gjc1):
     cardiovascular system  cellular  embryogenesis  growth/size/body  hematopoietic system 
     homeostasis/metabolism  mortality/aging  muscle  nervous system  no phenotypic analysis 
     vision/eye 

    Find genes that share phenotypes with GJC1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GJC1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GJC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GJC1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GJC1

    miRNA
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    miRTarBase miRNAs that target GJC1:
    hsa-mir-671-3p (MIRT037775), hsa-mir-7-5p (MIRT025645)

    Block miRNA regulation of human, mouse, rat GJC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GJC1 (see all 133):
    hsa-miR-1245 hsa-miR-3653 hsa-miR-138-2* hsa-miR-3622b-3p hsa-miR-376a* hsa-miR-200b hsa-miR-455-5p hsa-miR-519e
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GJC1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): GJC1 (NM_005497)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GJC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJC1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJC1


    (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
    CXG1_HUMAN, P36383: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum4
    cytoskeleton1
    extracellular1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005886plasma membrane TAS--
    GO:0005921gap junction TAS7966354
    GO:0005922connexon complex IEA--
    GO:0014704intercalated disc TAS--

    Find genes that share ontologies with GJC1           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 GJC1 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Gap junction trafficking
    Gap junction trafficking0.93
    Gap junction assembly0.00
    Gap junction trafficking and regulation0.93
    2Electric Transmission Across Gap Junctions
    Electric Transmission Across Gap Junctions
    Transmission across Electrical Synapses0.00
    3Transmission across Chemical Synapses
    Neuronal System0.68
    4Myometrial Relaxation and Contraction Pathways
    Calcium Regulation in the Cardiac Cell0.43
    5Clathrin derived vesicle budding
    Membrane Trafficking0.32


    Find genes that share SuperPaths with GJC1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for GJC1
        Signaling in Gap Junctions

    1 GeneGo (Thomson Reuters) Pathway for GJC1
        Cell adhesion Gap junctions

    1 BioSystems Pathway for GJC1
        Calcium Regulation in the Cardiac Cell

    2 Reactome Pathways for GJC1
        Gap junction assembly
    Electric Transmission Across Gap Junctions


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GJC1
    Interactions:

        GeneGlobe Interaction Network for GJC1

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

    Selected Interacting proteins for GJC1 (P363833 ENSP000003331934) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TJP1Q071573, ENSP000002815374I2D: score=2 STRING: ENSP00000281537
    GJA1P173023, ENSP000002825614I2D: score=1 STRING: ENSP00000282561
    TJP3O950493, ENSP000002629684I2D: score=2 STRING: ENSP00000262968
    CNSTENSP000003554704STRING: ENSP00000355470
    GJA10ENSP000003583584STRING: ENSP00000358358
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001570vasculogenesis IEA--
    GO:0006810transport NAS7966354
    GO:0006936muscle contraction TAS7966354
    GO:0007043cell-cell junction assembly TAS7966354
    GO:0007267cell-cell signaling ----

    Find genes that share ontologies with GJC1           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 GJC1 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 GJC1 (Cx45)    About this table
    LigandTypeActionAffinityPubmed IDs
    flufenamic acid
    InhibitorNone--
    octanol
    InhibitorNone--
    Ca2+
    InhibitorNone--
    carbenoxolone
    InhibitorNone--

    4 Novoseek inferred chemical compound relationships for GJC1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    connexin 45 95.8 82 9543497 (9), 14678136 (8), 7807524 (7), 9693379 (7) (see all 12)
    forskolin 19.2 1 15986093 (1)
    sucrose 8.9 2 12064588 (1), 16463142 (1)
    paraffin 5.59 3 12866956 (1), 12544356 (1)



    Find genes that share compounds with GJC1           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 GJC1 gene (2 alternative transcripts): 
    NM_001080383.1  NM_005497.3  

    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000587113 ENST00000330514(uc002ihk.3) ENST00000586347 ENST00000590758
    ENST00000592524 ENST00000591424 ENST00000587239 ENST00000586267 ENST00000426548(uc002ihj.3 uc002ihl.3)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate GJC1 (see all 133):
    hsa-miR-1245 hsa-miR-3653 hsa-miR-138-2* hsa-miR-3622b-3p hsa-miR-376a* hsa-miR-200b hsa-miR-455-5p hsa-miR-519e
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJC1
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat GJC1
      QuantiFast Probe-based Assays in human, mouse, rat GJC1

    Selected AceView cDNA sequences (see all 103):

    BQ024303 BM450045 CR594677 CK903155 AI823764 AA356625 AA722430 AI683941 
    AA903008 AI436030 AI376082 CB069422 AA747868 BE138808 CR603321 AA693746 
    AI186535 N26176 BQ009930 AI003367 C02111 BE669482 AK098274 BF791969 

    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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    GJC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGAGACGG
    GJC1 Expression
    About this image


    GJC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 5 entries
             His Bundle Cells Bundle of His
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Telencephalon
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Line H1 (WA01)
     
     Smooth Muscle (Muscoskeletal System)
             Mural Cells Splanchnic Mesoderm
    GJC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GJC1 Protein Expression
        Custom PCR Arrays for GJC1
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    QuantiFast Probe-based Assays in human, mouse, rat GJC1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJC1

    (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 GJC1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gjc11 , 5 gap junction protein, gamma 11, 5 92.51(n)1
    97.22(a)1
      11 (66.48 cM)5
    146151  NM_008122.31  NP_032148.11 
     1027995795 
    chicken
    (Gallus gallus)
    Aves GJC11 gap junction protein, gamma 1, 45kDa 76.9(n)
    85.17(a)
      396501  NM_205503.1  NP_990834.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Gap junction protein
    83(a)
    83(a)
    1 ↔ many
    1 ↔ many
    GL344678.1(42813-43994)
    6(64182781-64183962)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC527352 similar to gap junction protein, alpha 7, 45kDa (connexin more 73.14(n)    BC042343.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cx43.42 connexin 43.4 75.96(n)   30276  BC044357.1 


    ENSEMBL Gene Tree for GJC1 (if available)
    TreeFam Gene Tree for GJC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GJC1 gene
    GJB32  GJA102  GJD32  GJB62  GJB42  GJB22  GJB72  GJA42  
    GJA12  GJB52  GJC22  GJA52  GJD22  GJA32  GJA92  GJA82  
    GJB12  
    Selected SIMAP similar genes for GJC1 using alignment to 5 protein entries:     CXG1_HUMAN (see all proteins) (see all similar genes):
    DKFZp686P0738    GJC2    GJB1    GJB2    GJB7    GJA4
    GJB6    GJC3    GJA8    GJD2    GJA10    GJA1
    GJA5    GJA3    GJA9    GJB4    GJB3    GJB5

    Find genes that share paralogs with GJC1           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 GJC1 (see all 696)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1916194751,2
    --42875386(+) GCAAAC/GGGTCC 2 -- ds50010--------
    rs1447793951,2
    --42875457(+) AGCTTC/TTGAGC 2 -- ds50010--------
    rs1841991421,2
    C--42875481(+) TCCCCC/TGCCAG 2 -- ds50010--------
    rs1485931651,2
    C--42875757(+) ACATTA/TCCTGG 2 -- ds50010--------
    rs1140025051,2
    C,F--42875808(+) CACAAA/TCCACA 2 -- ds50011Minor allele frequency- T:0.03WA 118
    rs1429738611,2
    --42875912(+) CATAAA/GCTGTA 2 -- ut310--------
    rs113151,2
    C,F,O,H--42876111(+) TAACAC/GTTAGT 2 -- ut3115Minor allele frequency- G:0.03MN NA NS EA 1284
    rs791027641,2
    C--42876171(+) GTATAA/GTACAG 2 -- ut312Minor allele frequency- G:0.03CSA WA 119
    rs80825221,2
    C,F,A--42876340(+) agattC/Gtcatc 2 -- ut3114Minor allele frequency- G:0.16NA WA CSA EA 378
    rs1881309521,2
    --42876385(+) GGCACA/GTGCCA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for GJC1 (42875816 - 42908184 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for GJC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2674378CNV Deletion23128226
    nsv908288CNV Loss21882294
    nsv523493CNV Loss19592680
    nsv908286CNV Loss21882294
    nsv828021CNV Gain20364138
    nsv833456CNV Gain+Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GJC1
    DNA2.0 Custom Variant and Variant Library Synthesis for GJC1

    (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: 608655    OMIM disorders: --

    1 disease for GJC1:    
    About MalaCards
    cystic fibrosis


    Find genes that share disorders with GJC1           About GenesLikeMe

    8 Novoseek inferred disease relationships for GJC1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arrhythmia 24.5 1 19176598 (1)
    ventricular arrhythmia 24.3 2 14678136 (1), 16126808 (1)
    nasopharyngeal carcinoma 19 1 12866956 (1)
    lung carcinoma 16.9 1 12866956 (1)
    heart failure 9.1 1 14678136 (1)
    tumors 0 1 12866956 (1)
    carcinoma 0 7 12866956 (4)
    cystic fibrosis 0 1 17546509 (1)

    Genetic Association Database (GAD): GJC1
    Human Genome Epidemiology (HuGE) Navigator: GJC1 (4 documents)

    Export disorders for GJC1 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 GJC1 gene, integrated from 10 sources (see all 114):
    (articles sorted by number of sources associating them with GJC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of two human cardiac gap junction proteins, connexin40 and connexin45. (PubMed id 7966354)1, 2, 3, 9 Kanter H.L.... Beyer E.C. (J. Mol. Cell. Cardiol. 1994)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. 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)
    5. Association with ZO-1 correlates with plasma membrane partitioning in truncated connexin45 mutants. (PubMed id 16463142)1, 9 Laing J.G....Steinberg T.H. (J. Membr. Biol. 2005)
    6. Interplay between cystic fibrosis transmembrane regulator and gap junction channels made of connexins 45, 40, 32 and 50 expressed in oocytes. (PubMed id 17546509)1, 9 Kotsias B.A....Peracchia C. (J. Membr. Biol. 2006)
    7. [Expression of connexin43 and connexin45 in nasopharyngeal carcinoma]. (PubMed id 12452056)1, 9 Xiang Q....Li G.Y. (Ai Zheng 2002)
    8. Chamber-related differences in connexin expression in the human heart. (PubMed id 10336839)1, 9 Vozzi C....Severs N.J. (J. Mol. Cell. Cardiol. 1999)
    9. Gating properties of heterotypic gap junction channels formed of connexins 40, 43, and 45. (PubMed id 17189315)1, 9 Rackauskas M....Bukauskas F.F. (Biophys. J. 2007)
    10. Cytokine effects on gap junction communication and connexin expression in human bladder smooth muscle cells and suburothelial myofibroblasts. (PubMed id 21674053)1 Heinrich M....Neuhaus J. (PLoS ONE 2011)

    (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: 10052 HGNC: 4280 AceView: GJA7 Ensembl:ENSG00000182963 euGenes: HUgn10052
    ECgene: GJC1 H-InvDB: GJC1

    (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 GJC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GJC1 gene:
    Search GeneIP for patents involving GJC1

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



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