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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
    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 (