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FLASH GENE
Symbol GJB6 contributors: mct - updated : 06-01-2011
HGNC name gap junction protein, beta 6, 30kDa
HGNC id 4288
Corresponding disease
DFNA3 neurosensory deafness 3
DFNB1 neurosensory deafness 1
ED2 ectodermal dysplasia 2, hidrotic
KID2 keratitis-ichthyosis-deafness syndrome 2
Location 13q12.11      Physical location : 20.796.101 - 20.806.534
Synonym name
  • gap junction protein, beta 6 (connexin 30)
  • connexin 30
  • Synonym symbol(s) CX30, EDH, HED
    DNA
    TYPE functioning gene
    STRUCTURE 10.43 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure a basal promoter sequence active in a human keratinocyte cell line which responds to the activation of the EGF receptor
    MAPPING cloned Y linked N status confirmed
    Map cen - D13S141 - D13S175 - D13S115 - D13S292 - D13S283 - GJB6 - GJB2 - D13S809 - D13S243 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 2110 - 261 - -
    3 - 1944 - 261 - -
    4 - 2068 - 261 - -
    5 - 2178 - 261 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea   Homo sapiensAdult
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsensorystato-auditory  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentepidermal secretory cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text cochlea
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four putative membrane spanning alpha helices (TM4), separating the N terminal intracellular domain
  • two extracellular loops
  • a C terminal intracellular domain
  • mono polymer hexamer
    HOMOLOGY
    interspecies homolog to murine Cx30/Gjb6
    homolog to C.elegans ZK1307.1
    intraspecies homolog to GJB2
    Homologene
    FAMILY
  • beta-type (group I) subfamily
  • connexin family
  • beta-type (group I) subfamily
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,gap
    basic FUNCTION
  • having a role in intercellular transport and communication
  • required both for producing endocochlear potential and for the survival of hair cells in the mature cochlea
  • involved in the paracrine signaling within the epidermis
  • play an important role in cell-to-cell communication
  • play a crucial role in inner ear Ca2+ signaling: as hemichannels, they promote ATP release, sustaining long-range intercellular Ca2+ signals propagation
  • both GJB2 and GJB6 play essential roles in normal cochlear functions
  • GJB2, and GJB6 have dramatically different temporal and cellular expression patterns during early postnatal cochlear development
  • functional role of GJC2 and GJB6 for interastrocytic, interoligodendrocytic, and panglial coupling, and both connexins are required for maintenance of myelin
  • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS cell to cell transport
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
  • component of connexons composed of a hexamer of connexins
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with GJB2
  • GJB2 plays an essential role in the development of the auditory sensory epithelium and its unique developmental functions required for normal hearing is not replaceable by GJB6
  • cell & other
    REGULATION
    Other regulated by a Ca2+-dependent control in the expression of inner ear connexins implicated in hereditary deafness GJB2 and GJB6
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNA3 , ED2 , DFNB1 , KID2
    related resource Hereditary Hearing Loss Homepage
    The Connexin-deafness homepage
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS