Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol GJB6 contributors: mct - updated : 15-12-2021
HGNC name gap junction protein, beta 6, 30kDa
HGNC id 4288
DNA
TYPE functioning gene
STRUCTURE 10.36 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
5 - 2070 - 261 - 2020 32843087
3 - 2110 - 261 - 2020 32843087
3 - 1944 - 261 - 2020 32843087
4 - 2068 - 261 - 2020 32843087
5 - 2178 - 261 - 2020 32843087
4 - 1941 - 261 - 2020 32843087
5 - 2161 - 261 - 2020 32843087
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