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GJD2 Gene

protein-coding   GIFtS: 57
GCID: GC15M035043

Gap Junction Protein, Delta 2, 36kDa

(Previous names: gap junction protein, alpha 9, 36kDa)
(Previous symbol: GJA9)
  See GJD2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Gap Junction Protein, 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 peripheral neuropathy. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NC_018926.2  NT_010194.18  
Regulatory elements:
   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 Chromatin IP Primers for GJD2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GJD2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065711.1  
    ENSEMBL proteins: 
     ENSP00000290374  
    Reactome Protein details: Q9UKL4

    GJD2 Human Recombinant Protein Products:

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

     
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    Search eBioscience for ELISAs for GJD2 


    (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: 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


    Find genes that share domains with GJD2           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: 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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005243gap junction channel activity TAS--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with GJD2           About GenesLikeMe


    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 

    Find genes that share phenotypes with GJD2           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GJD2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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

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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJD2


    (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
    CXD2_HUMAN, Q9UKL4: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton1
    extracellular1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    Find genes that share ontologies with GJD2           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 GJD2 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Signaling in Gap Junctions
    Gap junction0.31
    Signaling in Gap Junctions0.31
    2Gap junction trafficking
    Gap junction trafficking0.93
    Gap junction assembly0.00
    Gap junction trafficking and regulation0.93
    3Electric Transmission Across Gap Junctions
    Electric Transmission Across Gap Junctions
    Transmission across Electrical Synapses0.00
    4Transmission across Chemical Synapses
    Neuronal System0.68
    5Myometrial Relaxation and Contraction Pathways
    Calcium Regulation in the Cardiac Cell0.43


    Find genes that share SuperPaths with GJD2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe 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

    2 Reactome Pathways for GJD2
        Gap junction assembly
    Electric Transmission Across Gap Junctions


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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GJD2: 
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GJD2

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

    Selected 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): Selected biological process terms (see all 6):    About this table

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

    Find genes that share ontologies with GJD2           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 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)



    Find genes that share compounds with GJD2           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 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
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat GJD2
      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™, 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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    GJD2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 19 entries
             Thalamus
             Septum   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             AII Amacrine Cells Inner Nuclear Layer
             Retina
     
     Pancreas (Endocrine System)    fully expand to see all 4 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
     
     Neurons
             AII Amacrine Cells Inner Nuclear Layer
     
     Spinal Cord (Nervous System)
    GJD2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GJD2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.283816

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

        Pathway & Disease-focused RT2 Profiler 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
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    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for GJD2 gene from Selected 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, delta 2, 36kDa
    91(a)
    1 ↔ 1
    1(30267920-30272879)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gjd21 gap junction protein, delta 2, 36kDa 77.45(n)
    91.09(a)
      100496736  XM_002932834.2  XP_002932880.1 
    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)
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    Paralogs for GJD2 gene
    GJB32  GJA102  GJD32  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

    Find genes that share paralogs with GJD2           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 GJD2 (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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GJD2
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    (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: 607058    OMIM disorders: --

    5 diseases for GJD2:    
    About MalaCards
    refractive error    peripheral neuropathy    juvenile myoclonic epilepsy    tremor
    essential tremor


    Find genes that share disorders with GJD2           About GenesLikeMe

    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

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    PubMed articles for GJD2 gene, integrated from 10 sources (see all 61):
    (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. (J. Neurosci. Res. 1999)
    2. A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. (PubMed id 20835239)1, 4 Solouki A.M....Klaver C.C. (Nat. Genet. 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. (Genome Res. 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. (Hum. Mol. Genet. 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. (J. Neurosci. Res. 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. (Epilepsy Res. 2006)
    7. The quest for juvenile myoclonic epilepsy genes. (PubMed id 23756480)1 Delgado-Escueta A.V....DurA^n R.M. (amp 2013)
    8. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. (PubMed id 23396134)1 Verhoeven V.J....Hammond C.J. (Nat. Genet. 2013)
    9. Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. (PubMed id 24144296)1 Cheng C.Y....Baird P.N. (Am. J. Hum. Genet. 2013)
    10. Neurons and I^-cells of the pancreas express connexin36, forming gap junction channels that exhibit strong cationic selectivity. (PubMed id 22752717)1 Bukauskas F.F. (J. Membr. Biol. 2012)

    (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)
    About This Section

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    Entrez Gene: 57369 HGNC: 19154 AceView: CX36 Ensembl:ENSG00000159248 euGenes: HUgn57369
    ECgene: GJD2 Kegg: 57369 H-InvDB: GJD2

    (According to HUGE)
    About This Section

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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)
    About This Section

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    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

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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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