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FLASH GENE
Symbol GJB3 contributors: np - updated : 02-05-2006
HGNC name gap junction protein, beta 3, 31kDa
HGNC id 4285
Corresponding disease
DFNAC neurosensory deafness, witn abnormal connexin 31
EKV erythrokeratodermia variabilis et progressiva
PNHI peripheral neuropathy
Location 1p34.3      Physical location : 35.246.789 - 35.251.966
Synonym name
  • gap junction protein, beta 3, 31kDa (connexin 31)
  • connexin 31
  • Synonym symbol(s) CX31, DFNA2, PNHI, DFNA2B, MGC102938, FLJ22486
    DNA
    TYPE functioning gene
    STRUCTURE 5.18 kb     2 Exon(s)    single Copie(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 2220 30.8 270 - 2005 16297190
    2 - 1777 30.8 270 - 2005 16297190
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestivepharynx   highly
    Hearing/Equilibriumearinnercochlea  
    Reproductivefemale systemuteruscervix highly
     female systemovary  highly
    Skin/Tegumentskin    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningepidermisstratum spinosummoderately
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Epithelialsensorystato-auditory  
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentkeratinocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four hydrophobic transmembrane segments separating the N terminal intracellular domain
  • two extracellular loops
  • a C terminal intracellular domain, conserved arrangement of three cysteine residues in each extracellular loop
  • three potential phosphorylation sites
  • HOMOLOGY
    interspecies homolog to murine Gjb3
    Homologene
    FAMILY
  • connexin family
  • beta-type groupe 1 subfamily
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text cytoplasmic localization of the mutant proteins
    basic FUNCTION
  • playing a role in synchronized cellular response to a variety of intercellular signals by regulating the diffusion of small molecules between the cytoplasm and adjacent cells
  • playing a role in enhancing neurite outgrowth, a key feature of neuronal differentiation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
  • monomer constituent of the connexon (six subunits)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNAC , EKV , PNHI
    related resource The Connexin-deafness homepage
    Hereditary Hearing Loss Homepage
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS