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FLASH GENE
Symbol GJB6 contributors: mct - updated : 15-12-2021
HGNC name gap junction protein, beta 6, 30kDa
HGNC id 4288
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   Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Hearing / Equilibriumhair cell receptor Homo sapiens
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 extracellular
        plasma membrane,junction,gap
        intracellular
    intracellular,cytoplasm,cytosolic
    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
  • is likely dispensable for cochlear functions
  • controls hippocampal excitatory synaptic transmission through modulation of astroglial glutamate transport, which directly alters synaptic glutamate levels
  • is a critical regulator of synaptic strength by controlling the synaptic location of astroglial processes
  • essential for normal repair following sensory cell loss
  • plays a critical role in skin health and hearing
  • exhibits unique characteristics including a long half-life when assembled into gap junctions
  • astroglial GJB6 is an important player in orchestrating neuronal network activity
  • is involved in basic cognitive processes and shapes synaptic and network activities
  • activity-dependent dynamics of GJB6 expression, perisynaptic localization, and functions
  • in the cochlea, GJB2, GJB6 largely co-assemble into heteromeric gap junctions, which connect adjacent non-sensory epithelial cells
  • presence of non-junctional GJB2/GJB6 oligomers within lipid raft-enriched tricellular junction sites
  • 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
  • GJB6 homomeric and GJB2/GJB6 heteromeric gap junctions exhibit distinct assembly mechanisms in the cochlea
  • 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
  • SGCG is expressed in the cerebrovascular system and is specifically regulated by astroglial GJB6 channels
  • 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