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FLASH GENE
Symbol GJA3 contributors: mct/npt/shn - updated : 04-06-2012
HGNC name gap junction protein, alpha 3, 46kDa
HGNC id 4277
Corresponding disease
CZP3 cataract, zonular pulverulent 3
Location 13q12.11      Physical location : 20.712.394 - 20.735.183
Synonym name
  • cataract, zonular pulverulent 2
  • gap junction protein, alpha 3, 46kDa (connexin 46)
  • gap junction protein, alpha 3, 46kD (connexin 46)
  • gap junction alpha-3 protein
  • connexin 46
  • connexin-46
  • Synonym symbol(s) CX46, MIP3, CAE2, CAE3, CX46, CZP2, CZP3
    DNA
    TYPE functioning gene
    STRUCTURE 22.79 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    MAPPING cloned Y linked N status confirmed
    Map cen - D13S1316 - GJA3 - D13S175 - D13S1236 - qter
    Physical map
    LOC387900 13 similar to FSHPRH1 protein LOC221136 13q12.11 similar to Mucin 5B precursor (Mucin 5 subtype B, tracheobronchial) (High molecular weight salivary mucin MG1) (Sublingual gland mucin) LOC390374 13 similar to hypothetical protein FLJ20297 TUBA2 13q11.2 tubulin, alpha 2 LOC390375 13 similar to paraspeckle protein 1 alpha isoform MRPL3P1 13q12.11 mitochondrial ribosomal protein L3 pseudogene 1 LOC221140 13q12.11 hypothetical LOC221140 LOC144848 13q12.11 similar to Vault poly(ADP-ribose) polymerase (VPARP) (193-kDa vault protein) (PARP-related/IalphaI-related H5/proline-rich) (PH5P) LOC390376 13 similar to Mitochondrial ornithine transporter 1 (Solute carrier family 25, member 15) TPIP 13q12.11 TPTE and PTEN homologous inositol lipid phosphatase HCP32 13q12.11 cytochrome c, somatic pseudogene ESRRAP 13q12.1 estrogen-related receptor alpha pseudogene LOC341757 13q12.11 similar to H63 breast cancer expressed gene isoform a; gene associated with HER-2/neu overexpression HSMPP8 13q12.11 M-phase phosphoprotein, mpp8 PSPC1 13q12-11 paraspeckle component 1 LOC390377 13 similar to Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetylgalactosaminide alpha-2,6-sialyltransferase (NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc-alpha-2,6-sialyltransferase) (ST6GalNAc IV) (Sialyltransferase 7D) (Sialyltransfer ZNF237 13q11-q12 zinc finger protein 237 LOC387901 13 LOC387901 ZNF198 13q11-q12 zinc finger protein 198 LOC144845 13q12.11 hypothetical protein BC008631 GJA3 13q11 gap junction protein, alpha 3, 46kDa (connexin 46) LOC390378 13 similar to peptidylprolyl isomerase A GJB2 13q11-q12.1 gap junction protein, beta 2, 26kDa (connexin 26) GJB6 13q12.1 gap junction protein, beta 6 (connexin 30) CRYL1 13q11 crystallin, lambda 1 TG737 13q12.1 crystallin, lambda 1 IL17D 13q12.11 interleukin 17D LOC221143 13q12.11 hypothetical protein LOC221143 XPO4 13q11 exportin 4 LOC390379 13 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP) LOC387902 13 similar to protein 40kD LATS2 13q11-q12 LATS, large tumor suppressor, homolog 2 (Drosophila) LOC338870 13q12.11 similar to ribosomal protein S12 LOC390380 13 similar to chromosome 9 open reading frame 12; 1,3,4,5,6-pentakisphosphate 2-kinase SAP18 13q12.11 sin3-associated polypeptide, 18kDa C13orf3 13q11 chromosome 13 open reading frame 3 MRP63 13p11.1-q11 mitochondrial ribosomal protein 63 LOC387903 13 LOC387903 ESTRRA 13q12.11 estrogen-related receptor alpha pseudogene
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 5219 42.3 435 - Guleria (2007)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Urinarykidney    
    Visualeyelens   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four putative membrane spanning alpha helices, separating the N terminal intracellular domain
  • two extracellular loops
  • a C terminal intracellular domain
  • HOMOLOGY
    interspecies ortholog to Gja3,Mus musculus
    ortholog to Gja3, Rattus norvegicus
    ortholog to gja3, Danio rerio
    ortholog to GJA3, Pan troglodytes
    Homologene
    FAMILY
  • connexin family
  • alpha-type (group II) subfamily
  • CATEGORY regulatory , structural protein , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • gap junction protein, water channel properties
  • playing a vital role in the maintenance of lens transparency
  • fiber cell gap junction protein regulated by protein kinase Cgamma (PRKCG) (Lin 2004)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cell to cell transport
    PATHWAY
    metabolism
    signaling sensory transduction/hearing , sensory transduction/vision
    a component
  • monomer constituent of the connexon (six subunits, including GJA3, GJA8, GJB1, GJB2), docking with its counterpart in the neighboring cell to form the gap junction channel
  • major intrinsic protein constituent of lens fiber
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • connexin43, Cx43 (
  • ZO-1 (
  • PKCgamma and Cav-1 (
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CZP3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice homozygous for the disrupted alpha3 gene developed nuclear cataracts that were associated with the proteolysis of crystallins (
  • Targeted null mutations in Gja3 in mice cause cataracts with recessive inheritance (
  • double mutant offspring between Lop10 and the Gja3(tm1) (alpha 3(-/-)) mice showed relatively normal lens cortical fibers (