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Symbol GJB4 contributors: mct/npt - updated : 17-09-2009
HGNC name gap junction protein, beta 4, 30.3kDa
HGNC id 4286
Corresponding disease
EKV erythrokeratodermia variabilis et progressiva
PSEK2 progressive symetric erythrokeratoderma 2 of Gottron
Location 1p34.3      Physical location : 35.225.341 - 35.229.325
Synonym name
  • gap junction protein, beta 4 (connexin 30.3)
  • gap junction protein, beta 4
    • Synonym symbol(s) CX30-3, MGC21116
    DNA
    TYPE functioning gene
    STRUCTURE 1.15 kb     1 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 1243 - 266 - van Steesel (2009)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Skin/Tegumentskin    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophobic
    STRUCTURE
    motifs/domains
  • N teminus cytoplasmic loop
  • two extracellular domain
  • four transmembrane domains
  • C terminus cytoplasmic
    • HOMOLOGY
    Homologene
    FAMILY
  • Gap junction channel family
  • connexin family
  • beta-type (group I) subfamily
    • CATEGORY regulatory , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text integral to membrane
    basic FUNCTION
  • functional partners in the formation of keratinocyte cap junctions
  • regulation of epidermal differentiation and maintenance of epidermal homeostasis
    • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EKV , PSEK2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS