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FLASH GENE
Symbol GJB4 contributors: mct/npt - updated : 17-09-2009
HGNC name gap junction protein, beta 4, 30.3kDa
HGNC id 4286
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