Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

GJD2 Gene

protein-coding   GIFtS: 59
GCID: GC15M035043

Gap Junction Protein, Delta 2, 36kDa

(Previous names: gap junction protein, alpha 9, 36kDa)
(Previous symbol: GJA9)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Gap Junction Protein, Delta 2, 36kDa1 2     Gap Junction Protein, Alpha 9, 36kDa1
GJA91 2 3 5     connexin-362
Connexin 361 2     Gap Junction Delta-2 Protein2
Gap Junction Alpha-9 Protein2 3     Connexin-363
CX362 5     Cx363

External Ids:    HGNC: 191541   Entrez Gene: 573692   Ensembl: ENSG000001592487   OMIM: 6070585   UniProtKB: Q9UKL43   

Export aliases for GJD2 gene to outside databases

Previous GC identifers: GC15M032833 GC15M011890


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GJD2 Gene:
This gene encodes a member of the connexin protein family. Connexins are gap junction proteins which are arranged
in groups of 6 around a central pore to form a connexon, a component of the gap junction intercellular channel.
The channels formed by this protein allow cationic molecule exchange between human beta cells and may function in
the regulation of insulin secretion. (provided by RefSeq, Oct 2012)

GeneCards Summary for GJD2 Gene: 
GJD2 (gap junction protein, delta 2, 36kDa) is a protein-coding gene. Diseases associated with GJD2 include refractive error, and juvenile myoclonic epilepsy, and among its related super-pathways are Gap junction and Gap junction assembly. GO annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot: CXD2_HUMAN, Q9UKL4
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 GJD2 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 GJD2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.2  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GJD2 gene promoter:
         Bach1   CREB   deltaCREB   MyoD   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGJD2 promoter sequence
   Search SABiosciences Chromatin IP Primers for GJD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GJD2


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

Entrez Gene cytogenetic band: 15q14   Ensembl cytogenetic band:  15q14   HGNC cytogenetic band: 15q13.1

GJD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GJD2 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M035043:  view genomic region     (about GC identifiers)

Start:
35,043,233 bp from pter      End:
35,047,166 bp from pter
Size:
3,934 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CXD2_HUMAN, Q9UKL4 (See protein sequence)
Recommended Name: Gap junction delta-2 protein  
Size: 321 amino acids; 36093 Da
Subunit: A connexon is composed of a hexamer of connexins
Subcellular location: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
Secondary accessions: Q2M241 Q9P2R0

Explore the universe of human proteins at neXtProt for GJD2: NX_Q9UKL4

Explore proteomics data for GJD2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UKL4

  • GJD2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GJD2 Protein Expression
    REFSEQ proteins: NP_065711.1  
    ENSEMBL proteins: 
     ENSP00000290374  
    Reactome Protein details: Q9UKL4
    Human Recombinant Protein Products for GJD2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for GJD2
    GenScript Custom Purified and Recombinant Proteins Services for GJD2
    Novus Biologicals GJD2 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005921gap junction NAS--
    GO:0005922connexon complex IEA--
    GO:0016021integral to membrane IEA--

    GJD2 for ontologies           About GeneDecksing



    GJD2 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for GJD2
    GenScript Custom Superior Antibodies Services for GJD2
    Novus Biologicals GJD2 Antibodies
    Abcam antibodies for GJD2
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibodies for GJD2
    LSBio Antibodies in human, mouse, rat for GJD2 

    Assay Products for GJD2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for GJD2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GJD2
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Cx36 
    Connexins and Pannexins

    5 InterPro protein domains:
     IPR000500 Connexin
     IPR002260 Connexin36
     IPR019570 Connexin_CCC
     IPR013092 Connexin_N
     IPR017990 Connexin_CS

    Graphical View of Domain Structure for InterPro Entry Q9UKL4

    ProtoNet protein and cluster: Q9UKL4

    2 Blocks protein domains:
    IPB002260 Connexin36 (Cx36) signature
    IPB013092 Connexin


    UniProtKB/Swiss-Prot: CXD2_HUMAN, Q9UKL4
    Similarity: Belongs to the connexin family. Delta-type subfamily


    GJD2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CXD2_HUMAN, Q9UKL4
    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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005243gap junction channel activity TAS--
    GO:0005515protein binding ----
         
    GJD2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GJD2:
     Decreased Hepatitis C virus re 

         7 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Gjd2):
     behavior/neurological  digestive/alimentary  endocrine/exocrine gland  homeostasis/metabolism  nervous system 
     no phenotypic analysis  vision/eye 

    GJD2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GJD2: Gjd2tm1Kwi Gjd2tm1Mony

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GJD2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GJD2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GJD2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GJD2 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GJD2
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate GJD2
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for GJD2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GJD2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GJD2
    Sirion Biotech Customized adenovirus for overexpression of GJD2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for GJD2 (see all 6)
    OriGene ORF clones in mouse, rat for GJD2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GJD2 (NM_020660)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GJD2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJD2
    Sirion Biotech Customized lentivirus for stable overexpression of GJD2 
                         Customized lentivirus expression plasmids for stable overexpression of GJD2 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for GJD2
    Search LifeMap BioReagents cell lines for GJD2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJD2


    (Pathways according to EMD Millipore, 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 SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GJD2 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Signaling in Gap Junctions
    Signaling in Gap Junctions0.31
    Gap junction0.31
    2Gap junction trafficking
    Gap junction trafficking0.74
    Gap junction trafficking and regulation0.70
    Gap junction assembly0.74
    3Electric Transmission Across Gap Junctions
    Transmission across Electrical Synapses 1.00
    Electric Transmission Across Gap Junctions1.00
    4Cell adhesion Gap junctions
    Cell adhesion Gap junctions0.89
    5Transmission across Chemical Synapses
    Neuronal System0.67

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for GJD2
        Cell adhesion Gap junctions

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GJD2
        Transcriptional Regulatory Network in Embryonic Stem Cell
    Signaling in Gap Junctions

    1 GeneGo (Thomson Reuters) Pathway for GJD2
        Cell adhesion Gap junctions

    1 BioSystems Pathway for GJD2
        Calcium Regulation in the Cardiac Cell

    5/7        Reactome Pathways for GJD2 (see all 7)
        Gap junction assembly
    Gap junction trafficking
    Membrane Trafficking
    Transmission across Electrical Synapses
    Electric Transmission Across Gap Junctions


    1         Kegg Pathway  (Kegg details for GJD2):
        Gap junction


    GJD2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GJD2

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

    5/33 Interacting proteins for GJD2 (ENSP000002903744) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GJA1ENSP000002825614STRING: ENSP00000282561
    MAPK1ENSP000002158324STRING: ENSP00000215832
    MAPK3ENSP000002630254STRING: ENSP00000263025
    MAPK7ENSP000003110054STRING: ENSP00000311005
    PRKACAENSP000003095914STRING: ENSP00000309591
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001508regulation of action potential IEA--
    GO:0007154cell communication NAS--
    GO:0007267cell-cell signaling ----
    GO:0007268synaptic transmission TAS--
    GO:0007601visual perception IEA--

    GJD2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GJD2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for GJD2 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 GJD2 (Cx36)    About this table 
    LigandTypeActionAffinityPubmed IDs
    flufenamic acid
    InhibitorNone--
    octanol
    InhibitorNone--
    Ca2+
    InhibitorNone--
    carbenoxolone
    InhibitorNone--

    2 Novoseek inferred chemical compound relationships for GJD2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gaba 9.01 3 12859682 (1), 15169831 (1)
    dopamine 7.1 3 19940186 (2), 17196757 (1)

    Search CenterWatch for drugs/clinical trials and news about GJD2 / CXD2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GJD2 gene: 
    NM_020660.2  

    Unigene Cluster for GJD2:

    Gap junction protein, delta 2, 36kDa
    Hs.283816
    Unigene Representative Sequence: BC112110
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000290374(uc001zis.1)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GJD2
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate GJD2
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for GJD2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GJD2
    Clone
    Products:
         
    OriGene clones in human, mouse for GJD2 (see all 6)
    OriGene ORF clones in mouse, rat for GJD2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GJD2 (NM_020660)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GJD2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJD2
    Sirion Biotech Customized lentivirus for stable overexpression of GJD2 
                         Customized lentivirus expression plasmids for stable overexpression of GJD2 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for GJD2
    OriGene qSTAR qPCR primer pairs in human, mouse for GJD2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat GJD2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GJD2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GJD2

    Additional mRNA sequence: 

    BC069131.1 BC069339.1 BC112110.1 BC112114.1 BC143788.1 

    1 DOTS entry:

    DT.91870837 

    2 AceView cDNA sequences:

    BC069339 NM_020660 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GJD2 expression in normal human tissues (normalized intensities)      GJD2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGCTGTAA
    GJD2 Expression
    About this image


    GJD2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 19 entries
             Thalamus
             Septum   
     
     Pancreas (Endocrine System)    fully expand to see all 4 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             AII Amacrine Cells Inner Nuclear Layer
             Retina
             retina   
     
     Spinal Cord (Nervous System)    fully expand to see all 3 entries
             Dorsal Horn   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 3 entries
             autonomic/sympathetic/ganglion   

    See GJD2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GJD2

    SOURCE GeneReport for Unigene cluster: Hs.283816

    UniProtKB/Swiss-Prot: CXD2_HUMAN, Q9UKL4
    Tissue specificity: Highly expressed in neurons

        SABiosciences Expression via Pathway-Focused PCR Arrays including GJD2: 
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for GJD2
    OriGene qSTAR qPCR primer pairs in human, mouse for GJD2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat GJD2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GJD2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GJD2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJD2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for GJD2 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gjd21 , 5 gap junction protein, delta 21, 5 91.38(n)1
    98.13(a)1
      2 (57.54 cM)5
    146171  NM_010290.21  NP_034420.21 
     1140096015 
    chicken
    (Gallus gallus)
    Aves GJD21 gap junction protein, delta 2, 36kDa 78.44(n)
    91.09(a)
      395273  NM_204582.1  NP_989913.1 
    lizard
    (Anolis carolinensis)
    Reptilia GJD26
    --
    Gap junction protein
    90(a)
    79(a)
    1 ↔ 1
    possible ortholog
    1(30267920-30272879)
    GL344061.1(14048-37917)
    zebrafish
    (Danio rerio)
    Actinopterygii gja92 gap junction protein alpha 9 77.18(n)   378444  AF462040.1 


    ENSEMBL Gene Tree for GJD2 (if available)
    TreeFam Gene Tree for GJD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GJD2 gene
    GJB32  GJA102  GJB62  GJB42  GJB22  GJB72  GJA42  GJB52  
    GJA12  GJC12  GJC22  GJA52  GJA32  GJA92  GJA82  GJB12  
    11 SIMAP similar genes for GJD2 using alignment to 2 protein entries:     CXD2_HUMAN (see all proteins):
    DKFZp686P0738    GJC1    GJC2    GJA1    GJA8    GJA5
    GJA3    GJA4    GJA9    GJB2    GJD3

    GJD2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/161 SNPs in GJD2 are shown (see all 161)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs580419311,2
    C--35044153(+) AGATTC/TTGAAA 1 -- ds50011Minor allele frequency- T:0.50NA 2
    rs5721931,2
    C--35044156(+) TTCTGA/GAAAAA 1 -- ds50013Minor allele frequency- G:0.20WA NA CSA 5
    rs579251421,2
    C--35044156(+) TTCTG-/G/GAA 
            
    AAAAA
    2 -- ds5001 cds11NA 2
    rs1424804301,2
    C--35044156(+) TTCTG-/GAAAAAAA 1 -- ds50010--------
    rs1393346621,2
    C--35044211(+) GGAAA-/GGGGCA 1 -- ds50010--------
    rs1481861071,2
    --35044229(+) GGGGGA/TGATAC 1 -- ds50010--------
    rs798461521,2
    C,F--35044302(+) TCACAA/GATTTT 1 -- ds50011Minor allele frequency- G:0.02NA 120
    rs1813477631,2
    --35044372(+) GTCCTA/GCTTGG 1 -- ds50010--------
    rs71731131,2
    C,A,H--35044556(+) TTTATC/GCAGTC 1 -- ds50010--------
    rs2009153591,2
    --35044682(+) TCTCAC/TACATA 2 V syn10--------

    HapMap Linkage Disequilibrium report for GJD2 (35043233 - 35047166 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for GJD2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv522411CNV Gain19592680


    Human Gene Mutation Database (HGMD): GJD2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing GJD2
    DNA2.0 Custom Variant and Variant Library Synthesis for GJD2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607058    OMIM disorders: --

    11 diseases for GJD2:    About MalaCards
    refractive error    juvenile myoclonic epilepsy    essential tremor    peripheral neuropathy
    tremor    myopia    neuropathy    neuronitis
    schizophrenia    retinitis    pancreatitis


    GJD2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for GJD2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    necrosis 0 2 16211561 (1)

    Genetic Association Database (GAD): GJD2
    Human Genome Epidemiology (HuGE) Navigator: GJD2 (1 document)

    Export disorders for GJD2 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)
    About This Section

    PubMed articles for GJD2 gene, integrated from 9 sources (see all 59):
    (articles sorted by number of sources associating them with GJD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure, chromosomal localization, and brain expression of human Cx36 gene. (PubMed id 10462698)1, 2, 3, 9 Belluardo N....Condorelli D.F. (1999)
    2. A genome-wide association study identifies a suscepti bility locus for refractive errors and myopia at 15q14. (PubMed id 20835239)1, 4 Solouki A.M....Klaver C.C. (2010)
    3. 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. (2004)
    4. Cx36 makes channels coupling human pancreatic beta-cells, and correlates with insulin expression. (PubMed id 19000992)1, 9 Serre-Beinier V....Meda P. (2009)
    5. Human and mouse microglia express connexin36, and functional gap junctions are formed between rodent microglia and neurons. (PubMed id 16211561)1, 9 Dobrenis K....Scemes E. (2005)
    6. Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy. (PubMed id 16876983)1, 9 Hempelmann A....Sander T. (2006)
    7. Genome-wide meta-analyses of multiancestry cohorts ide ntify multiple new susceptibility loci for refractive error and myopia. (PubMed id 23396134)1 Verhoeven V.J....Hammond C.J. (2013)
    8. Neurons and b-cells of the pancreas express connexin36 , forming gap junction channels that exhibit strong cationic selectivity. (PubMed id 22752717)1 Bukauskas F.F. (2012)
    9. A genome-wide search for loci interacting with known p rostate cancer risk-associated genetic variants. (PubMed id 22219177)4 Tao S....Sun J. (2012)
    10. Expression of connexin genes in the human retina. (PubMed id 20979653)1 SAPhl G....Willecke K. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 57369 HGNC: 19154 AceView: CX36 Ensembl:ENSG00000159248 euGenes: HUgn57369
    ECgene: GJD2 Kegg: 57369 H-InvDB: GJD2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GJD2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GJD2 gene:
    Search GeneIP for patents involving GJD2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for GJD2  
     OriGene qPCR primer pairs and template standards for GJD2   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for GJD2  
     OriGene qSTAR qPCR primer pairs in human, mouse for GJD2   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for GJD2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for GJD2   OriGene Custom Protein Services for GJD2  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat GJD2
     QIAGEN SeqTarget long-range PCR primers for resequencing GJD2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GJD2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GJD2
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GJD2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GJD2
     GenScript Custom Purified and Recombinant Proteins Services for GJD2 GenScript cDNA clones with any tag delivered in your preferred vector for GJD2
     GenScript Custom Assay Services for GJD2 GenScript Custom Superior Antibodies Services for GJD2
     GenScript Custom overexpressing Cell Line Services for GJD2 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in GJD2 promoter
     Search Chromatin IP Primers for GJD2
     RT2 qPCR Primer Assay in human, mouse, rat GJD2
     GNC Network for GJD2
     SABiosciences PCR Arrays including human, mouse, rat GJD2
     Tocris compounds for GJD2
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     GJD2 antibodies
     GJD2 proteins
     Antibodies for GJD2
     See all of Abcam's Antibodies, Kits and Proteins for GJD2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.
     Search LifeMap BioReagents cell lines for GJD2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJD2
     Browse SwitchGear 3'UTR luciferase reporter plasmids for GJD2
     SwitchGear Promoter luciferase reporter plasmids for GJD2
     ThermoFisher Antibodies for GJD2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJD2
     inGenious Targeting Laboratory - Custom generated mouse model solutions for GJD2
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GJD2
    Customized:
     lentivirus for stable overexpression of GJD2
     lentivirus expression plasmids for stable overexpression of GJD2
     adenovirus for overexpression of GJD2
     LSBio Antibodies in human, mouse, rat for GJD2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      GJD2 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4