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FLASH GENE
Symbol GNB3 contributors: mct/pgu - updated : 01-06-2016
HGNC name guanine nucleotide binding protein (G protein), beta polypeptide 3
HGNC id 4400
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal alpha-helical segment
  • seven WD (Trp-Asp) repeats, forming a propeller structure, highly conserved repeating units (&
    • 8764;40 amino acid motifs) usually ending with Trp-Asp (WD).37 WD40 repeat motifs act as sites for protein-protein interaction, and WD40 proteins regulate cellular function, including transmembrane signaling
  • pleckstrin homology (PH) domains
  • two short sequences homolog to a PKC binding sequence of annexin 1
    • conjugated PhosphoP
    mono polymer heteromer , trimer
    HOMOLOGY
    Homologene
    FAMILY
  • WD repeat G protein beta family
    • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • modulator or transducer in various transmembrane signaling systems
  • forms distinct dimers with specific Ggamma subunits and preferentially activates the beta3 isoform of phospholipase C
  • plays a critical role in several physiological processes, as a polymorphism in its gene is associated with a risk factor for several disorders
  • is required for normal light ON Responses and synaptic maintenance
  • main role of GNB3 in cones is to establish optimal levels of transducin heteromer in the outer segment, thereby indirectly contributing to robust response properties
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • composed of 3 units, alpha, beta and gamma
  • part of heterotrimeric G-protein, cone transducin, comprising GNAT2, GNB3 and GNGT2 subunits
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • dimerizing with G gamma subunit
  • KCNJ6 is capable of interacting with GNB1, GNB2, GNB3 and not GNB4 or GNB5
  • GNB3 participates in the G-protein heterotrimer that couples GRM6 to TRPM1
  • interactions between genetic variants of FTO and GNB3 influence clinical parameters to augment hypertension
  • GNGT1, GNG2, GNB1, GNB2, GNB3, interacts with MTOR and promotes its activation
    • cell & other
    REGULATION
    inhibited by TH
    ASSOCIATED DISORDERS
    corresponding disease(s) CSNB9
    Susceptibility
  • susceptibility factor in obesity in Inuits
  • to essential hypertension and impaired left ventricular diastolic filling
  • to diabetes only in subjects with low salt consumption
  • to depression
  • to variation of platelet aggregation in human whole blood
    • Variant & Polymorphism SNP
  • C825T, susceptibility to essential hypertension, obesity and cardiovascular disease
  • C825T polymorphism were significantly associated with diabetes only in subjects with low salt consumption
  • CC homozygotes at marker rs4963516 had higher mean diastolic (DBP), and mean arterial (MAP)blood pressure
  • relationship between GNB3 C825T and depression
  • GNB3 825CC genotype is associated with enhanced platelet aggregation
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Gnb3(-/-) cones produce stable responses with normal kinetics and saturating response amplitudes similar to that of the wild-type, suggesting that cone phototransduction can function efficiently without a GNB subunit