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

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 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, Alpha 3, 46kDa1 2     CTRCT142
CZP31 2 5     connexin-462
Connexin 461 2     Gap Junction Alpha-3 Protein2
CX462 5     Connexin-463
Gap Junction Protein, Alpha 3, 46kD (Connexin 46)1     Cx463
Gap Junction Protein, Alpha 3, 46kDa (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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 zonular pulverulent cataract 3, and posterior polar cataract, and among its related super-pathways are Gap junction assembly and Cell adhesion Gap junctions. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NT_024524.14  NC_018924.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GJA3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y6H8

  • GJA3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GJA3 Protein Expression
    REFSEQ proteins: NP_068773.2  
    ENSEMBL proteins: 
     ENSP00000241125  
    Reactome Protein details: Q9Y6H8
    Human Recombinant Protein Products for GJA3: 
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    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 ----
    GO:0005921gap junction ----
    GO:0005922connexon complex IEA--
    GO:0016021integral to membrane IEA--

    GJA3 for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for GJA3 

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    (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: 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


    GJA3 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: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005243gap junction channel activity IEA--
         
    GJA3 for ontologies           About GeneDecksing


    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 

    GJA3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for GJA3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJA3


    (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 GJA3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Gap junction trafficking
    Gap junction trafficking0.74
    Gap junction trafficking and regulation0.70
    Gap junction assembly0.74
    2Cell adhesion Gap junctions
    Cell adhesion Gap junctions0.89
    3Calcium Regulation in the Cardiac Cell
    Calcium Regulation in the Cardiac Cell0.43
    4Membrane Trafficking
    Membrane Trafficking0.32
    5Signaling in Gap Junctions
    Signaling in Gap Junctions0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for GJA3
        Cell adhesion Gap junctions

    1 Downloadable PowerPoint Slide of QIAGEN 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

    4        Reactome Pathways for GJA3
        Gap junction assembly
    Gap junction trafficking
    Membrane Trafficking
    Gap junction trafficking and regulation



    GJA3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GJA3

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

    5/24 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 (GO ID links to tree view):    About this table

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

    GJA3 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

    GJA3 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about GJA3 / CXA3

    (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 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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    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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      QIAGEN 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™, 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

    GJA3 expression in normal human tissues (normalized intensities)      GJA3 embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Endothelium (Cardiovascular System)
             Angioblasts Embryonic Capillary Plexus
     
     Eye (Sensory Organs)
             Human Lens Epithelial Cells (HLEpiC)   
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             Angioblasts Embryonic Capillary Plexus
     
     Epithelium (Uncategorized)
             Human Lens Epithelial Cells (HLEpiC)   
     
     Heart (Cardiovascular System)

    See GJA3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GJA3

    SOURCE GeneReport for Unigene cluster: Hs.130313
        SABiosciences Expression via Pathway-Focused PCR Arrays including GJA3: 
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat

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    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for GJA3 gene from 5/13 species (see all 13)    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 78.89(n)1
    77.51(a)1
      14 (29.82 cM)5
    146111  NM_016975.21  NP_058671.21 
     570356605 
    chicken
    (Gallus gallus)
    Aves GJA31 gap junction protein, alpha 3, 46kDa 65.21(n)
    62.67(a)
      428084  NM_001040644.1  NP_001035734.1 
    lizard
    (Anolis carolinensis)
    Reptilia GJA36
    Gap junction protein
    87(a)
    1 ↔ 1
    3(187269410-187269814)
    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 65.95(n)
    63.55(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)
    About This Section
    Paralogs for GJA3 gene
    GJB32  GJA102  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

    GJA3 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

    10/551 SNPs in GJA3 are shown (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_0091584
    Cataract, zonular pulverulent 3 (CZP3)4--see VAR_0091582 N S mis40--------
    VAR_0667114
    Cataract, zonular pulverulent 3 (CZP3)4--see VAR_0667112 D Y mis40--------
    VAR_0234474
    Cataract, zonular pulverulent 3 (CZP3)4--see VAR_0234472 P L mis40--------
    VAR_0300234
    Cataract, zonular pulverulent 3 (CZP3)4--see VAR_0300232 R H mis40--------
    rs1219178251,2
    Cpathogenic11670575(-) CTGCCC/TCAACA 2 P L mis10--------
    rs1219178271,2
    Cpathogenic11670908(-) CATCCA/GCTTCT 2 H R mis10--------
    rs1219178231,2
    Cpathogenic11670947(-) CGAGAA/GCGTCT 2 N S mis10--------
    rs116174151,2
    C,F,Huntested11670118(+) TTGAGC/TGCCGG 2 A syn15Minor allele frequency- T:0.19NA WA EA 428
    VAR_0667134
    ----see VAR_0667132 R L mis40--------
    VAR_0300224
    ----see VAR_0300222 P L 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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing GJA3
    DNA2.0 Custom Variant and Variant Library Synthesis for GJA3

    (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: 121015   
    OMIM disorders: 601885  
    UniProtKB/Swiss-Prot: CXA3_HUMAN, Q9Y6H8
  • Cataract, zonular pulverulent 3 (CZP3) [MIM:601885]: A form of zonular cataract. 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.
    Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal
    nucleus. 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
  • Note=GJA3 mutations are responsible of multiple types of autosomal dominant cataract (ADC). Cataract is
    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. In
    general, the more posteriorly located and dense an opacity, the greater the impact on visual function

  • 11 diseases for GJA3:    About MalaCards
    zonular pulverulent cataract 3    posterior polar cataract    cataract, zonular    cataract
    peripheral neuropathy    cataracts, autosomal dominant    leukodystrophy    neuropathy
    blindness    neuronitis    hypoxia


    GJA3 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for GJA3 gene, integrated from 9 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. (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. (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. (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. (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. (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. (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. (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. (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. (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. (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
    Entrez Gene: 2700 HGNC: 4277 AceView: GJA3 Ensembl:ENSG00000121743 euGenes: HUgn2700
    ECgene: GJA3 H-InvDB: GJA3

    (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 GJA3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GJA3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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