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FLASH GENE
Symbol GJA8 contributors: mct/shn - updated : 03-10-2011
HGNC name gap junction protein, alpha 8, 50kDa
HGNC id 4281
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 1377 48.1 433 - 1995 8549164
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Visualeyelens  specific
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier liningretinal pigment epithelium (RPE)  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text eye
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, involved in pHi sensitivity, but has little influence over single-channel conductance, voltage dependence, or gating kinetics
  • HOMOLOGY
    interspecies ortholog to Gja8, Mus musculus
    ortholog to Gja8, Rattus norvegicus
    ortholog to GJA8, Pan troglodytes
    Homologene
    FAMILY
  • connexin family
  • alpha-type (group II) subfamily
  • CATEGORY structural protein , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • playing a critical role for maintenance of lens transparency (
  • required for normal eye growth (
  • having water channel properties
  • gap junction channels formed by GJA8 are critical for the maintenance of eye lens transparency, which is sensitive to pH and external Ca2+ concentration
  • essential for normal lens development
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS cell to cell transport
    PATHWAY
    metabolism
    signaling 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
  • interacting with calmodulin (calmodulin and Ca2+ can cooperate in the gating control of GJA8 hemichannels)
  • directly interacts with MIP in lens
  • binding of Ca2+/CALM1 to the intracellular loop of GJA8 is critical for mediating the Ca2+-dependent inhibition of GJA8 gap junctions in the lens of the eye
  • GJA8 requires an intact PDZ-binding motif and TJP1 for the formation of functional intercellular channels
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CZP1 , CATR
    Susceptibility to schizophrenia
    Variant & Polymorphism other polymorphisms increasing the risk of schizophrenia
    Candidate gene
    Marker
    Therapy target
  • targeted replacement of Cx50 with Cx46 in mice by genetic knock-in corrects defects in cellular differentiation and prevents cataracts, but normal growth is not restored (
  • ANIMAL & CELL MODELS
  • Cx50-null mice exhibited microphthalmia and nuclear cataracts (
  • deletion of Cx50 in mice results in reduced ocular growth and cataracts (