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FLASH GENE
Symbol GJA4 contributors: mct/npt - updated : 13-05-2020
HGNC name gap junction protein, alpha 4, 37kDa
HGNC id 4278
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • cytoplasmic N-terminal alpha-helical structure may be dispensable for protein localization, but implicated in protein trafficking, oligomerization and channel gating, and required for hemichannel gating and intercellular communication (Kyle 2008, 2009))
  • four putative membrane spanning alpha helices, separating the N terminal intracellular domain
  • two extracellular loops
  • a C terminal intracellular domain
    • HOMOLOGY
    Homologene
    FAMILY
  • connexin family
  • alpha-type (group II) subfamily
    • CATEGORY structural protein , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,gap
    basic FUNCTION
  • gap junction protein of endothelial cells with multiple conductance levels and pronounced voltage dependency
  • may control initiation of the development of atherosclerotic plaques by regulating monocyte adhesion
  • important role for GJA4 hemichannels and gap junctions in platelet thrombus function
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cell to cell transport
    PATHWAY
    metabolism
    signaling
    a component
  • monomer constituent of the connexon (six subunits), docking with its counterpart in the neighboring cell to form the gap junction channel
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • GJA1 in some endothelial cells
  • GJA4, GJA5, contribute to the propagation and amplification of the Ca(2+) signaling triggered by Acetylcholine (ACh) in endothelial cells expressing CHRM3
  • arterial shear activates a NOTCH1-GJA4-CDKN1B axis that promotes endothelial cell cycle arrest to enable arterial gene expression
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to atherosclerosis
  • to primary ovarian insufficiency (POI)
  • to Polycystic ovarian syndrome (PCOS)
    • Variant & Polymorphism other
  • polymorphism protecting against atherosclerosis
  • c.946G>A heterozygous substitution leading to a p.Gly316Ser variant that was present in primary ovarian insufficiency (POI)
  • GJA4 C1019T variation may contribute to the risk of PCOS
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • deletion of the Cx37 gene (Gja4) in transgenic mice reduced platelet aggregation, fibrinogen binding, granule secretion, and clot retraction
  • Cx37-deficient female mice are infertile