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GJA3 Gene

protein-coding   GIFtS: 60
GCID: GC13M020712

Gap Junction Protein, Alpha 3, 46kDa

(Previous names: gap junction protein, alpha 3, 46kD (connexin 46), gap junction...)
(Previous symbol: CZP3)
  See GJA3-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, Alpha 3, 46kDa1 2     Gap Junction Protein, Alpha 3, 46kDa (Connexin 46)1
CZP31 2 5     connexin-462
Connexin 461 2     Gap Junction Alpha-3 Protein2
CTRCT142 5     Connexin-463
CX462 5     Cx463
Gap Junction Protein, Alpha 3, 46kD (Connexin 46)1     CAE35

External Ids:    HGNC: 42771   Entrez Gene: 27002   Ensembl: ENSG000001217437   OMIM: 1210155   UniProtKB: Q9Y6H83   

Export aliases for GJA3 gene to outside databases

Previous GC identifers: GC13M018696 GC13M014696 GC13M019646 GC13M018514 GC13M019614 GC13M001517


(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 GJA3 Gene:
The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this
gene are a cause of zonular pulverulent cataract type 3 (CZP3). (provided by RefSeq, Jan 2010)

GeneCards Summary for GJA3 Gene:
GJA3 (gap junction protein, alpha 3, 46kDa) is a protein-coding gene. Diseases associated with GJA3 include cataract 14, multiple types, and zonular pulverulent cataract 3. GO annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot: CXA3_HUMAN, Q9Y6H8
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 GJA3 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 GJA3 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_000013.10  NT_024524.15  NC_018924.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GJA3 gene promoter:
         Bach2   HNF-3beta   POU2F1   CBF-A   CBF-B   POU2F1a   CP1A   ZIC2/Zic2   NF-Y   CBF(2)   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for GJA3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GJA3


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

Entrez Gene cytogenetic band: 13q12.11   Ensembl cytogenetic band:  13q12.11   HGNC cytogenetic band: 13q12.11

GJA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GJA3 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M020712:  view genomic region     (about GC identifiers)

Start:
20,712,394 bp from pter      End:
20,735,188 bp from pter
Size:
22,795 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: CXA3_HUMAN, Q9Y6H8 (See protein sequence)
Recommended Name: Gap junction alpha-3 protein  
Size: 435 amino acids; 47410 Da
Subunit: A connexon is composed of a hexamer of connexins. This particular connexin is a component of lens fiber
gap junctions, can form both junctional and non-junctional ("hemi-") channels
Secondary accessions: Q0VAB7 Q9H537

Explore the universe of human proteins at neXtProt for GJA3: NX_Q9Y6H8

Explore proteomics data for GJA3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GJA3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_068773.2  
    ENSEMBL proteins: 
     ENSP00000241125  
    Reactome Protein details: Q9Y6H8

    GJA3 Human Recombinant Protein Products:

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

     
    Search eBioscience for Proteins for GJA3 

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    LSBio Antibodies in human, mouse, rat for GJA3

    GJA3 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for GJA3 


    (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: Cx46
    Connexins and Pannexins

    5 InterPro protein domains:
     IPR000500 Connexin
     IPR019570 Connexin_CCC
     IPR002262 Connexin46
     IPR013092 Connexin_N
     IPR017990 Connexin_CS

    Graphical View of Domain Structure for InterPro Entry Q9Y6H8

    ProtoNet protein and cluster: Q9Y6H8

    2 Blocks protein domains:
    IPB002262 Gap junction alpha-3 protein signature
    IPB013092 Connexin


    UniProtKB/Swiss-Prot: CXA3_HUMAN, Q9Y6H8
    Similarity: Belongs to the connexin family. Alpha-type (group II) subfamily


    Find genes that share domains with GJA3           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: CXA3_HUMAN, Q9Y6H8
    Function: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons,
    through which materials of low MW diffuse from one cell to a neighboring cell

         Genatlas biochemistry entry for GJA3:
    gap junction protein,alpha 3,46kDa (connexin 46),expressed in lens,monomer of the connexon (six subunits including
    GJA3,GJA8,GJB1,GJB2))

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005243gap junction channel activity IEA--
         
    Find genes that share ontologies with GJA3           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for GJA3:
     Decreased influenza A virus in  Increased cell number in G1, a 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Gja3):
     vision/eye 

    Find genes that share phenotypes with GJA3           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GJA3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GJA3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GJA3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GJA3

    miRNA
    Products:
        
    miRTarBase miRNAs that target GJA3:
    hsa-mir-149-5p (MIRT045585)

    Block miRNA regulation of human, mouse, rat GJA3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GJA3 (see all 31):
    hsa-miR-3128 hsa-miR-875-5p hsa-miR-3616-5p hsa-miR-4272 hsa-miR-1271 hsa-miR-138-2* hsa-miR-3133 hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidGJA3 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat GJA3

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: GJA3 (NM_021954)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GJA3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJA3

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    Browse ESI BIO Cell Lines and PureStem Progenitors for GJA3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJA3


    (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
    CXA3_HUMAN, Q9Y6H8: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus2
    extracellular1
    peroxisome1

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

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

    Find genes that share ontologies with GJA3           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 GJA3 About    
    See pathways by source

    SuperPathContained pathways About
    1Gap junction trafficking
    Gap junction trafficking0.93
    Gap junction assembly0.00
    Gap junction trafficking and regulation0.93
    2Myometrial Relaxation and Contraction Pathways
    Calcium Regulation in the Cardiac Cell0.43
    3Clathrin derived vesicle budding
    Membrane Trafficking0.32
    4Signaling in Gap Junctions
    Signaling in Gap Junctions0.31
    5Cell adhesion Gap junctions
    Cell adhesion Gap junctions


    Find genes that share SuperPaths with GJA3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for GJA3
        Signaling in Gap Junctions

    1 GeneGo (Thomson Reuters) Pathway for GJA3
        Cell adhesion Gap junctions

    1 BioSystems Pathway for GJA3
        Calcium Regulation in the Cardiac Cell

    1 Reactome Pathway for GJA3
        Gap junction assembly


        Pathway & Disease-focused RT2 Profiler PCR Arrays including GJA3: 
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GJA3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for GJA3 (Q9Y6H83 ENSP000002411254) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GJA1P173023, ENSP000002825614I2D: score=2 STRING: ENSP00000282561
    TJP1Q071573, ENSP000002815374I2D: score=2 STRING: ENSP00000281537
    CAV1Q031353, ENSP000003391914I2D: score=1 STRING: ENSP00000339191
    MIPP303013, ENSP000002579794I2D: score=1 STRING: ENSP00000257979
    PRKCGP051293, ENSP000002634314I2D: score=1 STRING: ENSP00000263431
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport NAS9413992
    GO:0007267cell-cell signaling TAS9413992
    GO:0007601visual perception TAS10205266

    Find genes that share ontologies with GJA3           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 GJA3 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 GJA3 (Cx46)    About this table
    LigandTypeActionAffinityPubmed IDs
    flufenamic acid
    InhibitorNone--
    octanol
    InhibitorNone--
    Ca2+
    InhibitorNone--
    carbenoxolone
    InhibitorNone--

    3 Novoseek inferred chemical compound relationships for GJA3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mp 26 84.4 4 8529419 (1), 8300349 (1)
    lipid 0 1 11980479 (1)
    calcium 0 4 9914390 (3)



    Find genes that share compounds with GJA3           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 GJA3 gene: 
    NM_021954.3  

    Unigene Cluster for GJA3:

    Gap junction protein, alpha 3, 46kDa
    Hs.130313  [show with all ESTs]
    Unigene Representative Sequence: NM_021954
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000241125(uc001umx.1)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate GJA3 (see all 31):
    hsa-miR-3128 hsa-miR-875-5p hsa-miR-3616-5p hsa-miR-4272 hsa-miR-1271 hsa-miR-138-2* hsa-miR-3133 hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidGJA3 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat GJA3
      QuantiFast Probe-based Assays in human, mouse, rat GJA3

    Additional mRNA sequence: BC121137.2 

    1 DOTS entry:

    DT.91971562 

    2 AceView cDNA sequences:

    NM_021954 CO246671 

    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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    GJA3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATTTACAAA
    GJA3 Expression
    About this image


    GJA3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Endothelium (Cardiovascular System)
             Angioblasts Embryonic Capillary Plexus
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             Angioblasts Embryonic Capillary Plexus
     
     Heart (Cardiovascular System)
    GJA3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GJA3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.130313
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GJA3: 
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for GJA3
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    QuantiFast Probe-based Assays in human, mouse, rat GJA3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJA3

    (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 GJA3 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gja31 , 5 gap junction protein, alpha 31, 5 78.24(n)1
    77.09(a)1
      14 (29.82 cM)5
    146111  NM_001271623.11  NP_001258552.11 
     570356605 
    chicken
    (Gallus gallus)
    Aves GJA31 gap junction protein, alpha 3, 46kDa 63.88(n)
    61.95(a)
      428084  NM_001040644.1  NP_001035734.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC530822 similar to gap junction membrane channel protein alpha more 74.12(n)    BC043801.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gja31 gap junction protein, alpha 3 65.31(n)
    63.07(a)
      387533  NM_207642.1  NP_997525.1 


    ENSEMBL Gene Tree for GJA3 (if available)
    TreeFam Gene Tree for GJA3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GJA3 gene
    GJB32  GJA102  GJD32  GJB62  GJB42  GJB22  GJB72  GJA42  
    GJA12  GJC12  GJB52  GJC22  GJA52  GJD22  GJA92  GJA82  
    GJB12  
    16 SIMAP similar genes for GJA3 using alignment to 1 protein entry:     CXA3_HUMAN:
    GJA5    GJA9    GJA10    GJB2    GJB1    GJB5
    GJB7    GJA4    GJB3    GJB6    GJA8    GJB4
    GJA1    GJD2    GJD3    GJC1

    Find genes that share paralogs with GJA3           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 GJA3 (see all 551)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0667134
    Cataract 14, multiple types (CTRCT14)4--see VAR_0667132 R L mis40--------
    VAR_0300224
    Cataract 14, multiple types (CTRCT14)4--see VAR_0300222 P L mis40--------
    VAR_0667124
    Cataract 14, multiple types (CTRCT14)4--see VAR_0667122 V M mis40--------
    VAR_0300214
    Cataract 14, multiple types (CTRCT14)4--see VAR_0300212 F L mis40--------
    VAR_0667194
    Cataract 14, multiple types (CTRCT14)4--see VAR_0667192 N T mis40--------
    VAR_0667184
    Cataract 14, multiple types (CTRCT14)4--see VAR_0667182 P S mis40--------
    VAR_0667154
    Cataract 14, multiple types (CTRCT14)4--see VAR_0667152 D N mis40--------
    VAR_0387964
    Cataract 14, multiple types (CTRCT14)4--see VAR_0387962 W S mis40--------
    VAR_0667104
    Cataract 14, multiple types (CTRCT14)4--see VAR_0667102 G D mis40--------
    VAR_0667164
    Cataract 14, multiple types (CTRCT14)4--see VAR_0667162 R G mis40--------

    HapMap Linkage Disequilibrium report for GJA3 (20712394 - 20735188 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for GJA3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2667874CNV Deletion23128226
    nsv516427CNV Loss19592680
    nsv899871CNV Loss21882294
    nsv899870CNV Loss21882294
    nsv899872CNV Loss21882294
    nsv899869CNV Gain21882294
    nsv899868CNV Gain21882294

    Human Gene Mutation Database (HGMD): GJA3
    Locus Specific Mutation Databases (LSDB): GJA3

    Site Specific Mutation Identification with PCR Assays
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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: 121015   
    OMIM disorders: 601885  
    UniProtKB/Swiss-Prot: CXA3_HUMAN, Q9Y6H8
  • Cataract 14, multiple types (CTRCT14) [MIM:601885]: An opacification of the crystalline lens of the eye
    that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a
    portion of the lens, and may be static or progressive. CTRCT14 includes zonular pulverulent cataract, among
    others. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots
    affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may
    be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision
    is hardly if at all impeded. Usually sharply separated from a clear cortex outside them, they may have
    projections from their outer edges known as riders or spokes. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 9 diseases for GJA3:    
    About MalaCards
    cataract 14, multiple types    zonular pulverulent cataract 3    cataract 4, multiple types    cataract 1, multiple types
    cataract 6, multiple types    cataract 3, multiple types    cataract    posterior polar cataract
    peripheral neuropathy


    Find genes that share disorders with GJA3           About GenesLikeMe

    3 Novoseek inferred disease relationships for GJA3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pulverulent zonular cataract 94.2 6 16885921 (3), 10746562 (1)
    congenital cataract 85.1 12 16254549 (3), 17615540 (2), 17893674 (2), 20431721 (2) (see all 5)
    cataract 63.2 12 11875045 (3), 16971895 (1), 17615540 (1), 11916859 (1) (see all 7)

    Human Genome Epidemiology (HuGE) Navigator: GJA3 (1 document)

    Export disorders for GJA3 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 GJA3 gene, integrated from 10 sources (see all 74):
    (articles sorted by number of sources associating them with GJA3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Connexin46 mutations in autosomal dominant congenital cataract. (PubMed id 10205266)1, 2, 3, 9 Mackay D.... Bhattacharya S. (Am. J. Hum. Genet. 1999)
    2. A novel 'pearl box' cataract associated with a mutation in the connexin 46 (GJA3) gene. (PubMed id 17615540)1, 2, 9 Guleria K.... Singh J.R. (Mol. Vis. 2007)
    3. Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population. (PubMed id 16254549)1, 2, 9 Devi R.R.... Vijayalakshmi P. (Mol. Vis. 2005)
    4. Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3). (PubMed id 10746562)1, 2, 9 Rees M.I....Gray J. (Hum. Genet. 2000)
    5. A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family. (PubMed id 17893674)1, 2, 9 Guleria K.... Vanita V. (Mol. Vis. 2007)
    6. A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family. (PubMed id 16885921)1, 2, 9 Addison P.K.... Bhattacharya S.S. (Mol. Vis. 2006)
    7. A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract. (PubMed id 14627959)1, 2, 9 Jiang H.... Hu L. (Mol. Vis. 2003)
    8. Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3). (PubMed id 20431721)1, 2, 9 Zhou Z.... Qi Y. (Mol. Vis. 2010)
    9. A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant 'nuclear punctate' cataracts linked to chromosome 13q. (PubMed id 15208569)1, 2, 9 Bennett T.M.... Shiels A. (Mol. Vis. 2004)
    10. The congenital 'ant-egg' cataract phenotype is caused by a missense mutation in connexin46. (PubMed id 16971895)1, 2, 9 Hansen L.... Rosenberg T. (Mol. Vis. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 2700 HGNC: 4277 AceView: GJA3 Ensembl:ENSG00000121743 euGenes: HUgn2700
    ECgene: GJA3 H-InvDB: GJA3

    (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 GJA3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GJA3[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GJA3 gene:
    Search GeneIP for patents involving GJA3

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



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