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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
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 (