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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
Corresponding disease
CSNB9 blindness night congenital, stationary 9
Location 12p13.31      Physical location : 6.949.374 - 6.956.556
Synonym name
  • GTP-binding regulatory protein beta-3 chain
  • transducin beta chain 3
  • guanine nucleotide-binding protein G(I)/G(S)/G(T) beta
    • subunit 3
  • hypertension associated protein
    • Synonym symbol(s) GBB3
    DNA
    TYPE functioning gene
    STRUCTURE 6.54 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 1760 - 340 - 2003 12697327
    10 - 1757 - 339 - 1998 9425898
  • also called GNB3s
  • C825T variant with defect of exon 9 splicing, biologically active protein that enhances signal transduction
    • - splicing 460 32.2 291 retina, colon, umbilical cord, adipose tissue, B lymphoblast, fibroblast cells, brain 2003 12697327
  • also called GNB3v
  • no association with C825T SNP
  • a N-terminal coiled-coil domain,four WD domains and two potential serine phosphorylation sites
    		•
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Visualeyeretina  highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualbipolar cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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