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FLASH GENE
Symbol GNB5 contributors: npt/mct - updated : 09-03-2016
HGNC name guanine nucleotide binding protein (G protein), beta 5
HGNC id 4401
Corresponding disease
MSBCD Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability
Location 15q21.2      Physical location : 52.413.122 - 52.483.565
Synonym name transducin beta chain 5
Synonym symbol(s) GB5, Gbeta5, FLJ37457, FLJ43714
DNA
TYPE functioning gene
STRUCTURE 70.44 kb     13 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 splicing 2979 38.8 353 - 2007 18094259
  • variant 1, or GB5s
  • indispensable for outer plexiform layer integrity and normal light responses of the retina
  • 13 splicing 3084 43.5 395 - 2007 18094259
  • variant 2, or GB5l
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Endocrinepancreas   moderately
    Nervousbrain   predominantly Homo sapiens
     brainhindbraincerebellum predominantly Homo sapiens
     brainforebraincerebral cortex predominantly Homo sapiens
     brainforebraincerebral lobeoccipitalpredominantly Homo sapiens
    Visualeyeretina    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral  predominantly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Mus musculus
    Visualbipolar cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two guanine nucleotide-binding WD40 repeats
  • seven WD repeats
  • DNA topoisomerase domain
  • mono polymer heteromer , trimer
    HOMOLOGY
    interspecies homolog to murine Gnb5
    Homologene
    FAMILY
  • WD repeat G protein beta family
  • CATEGORY signaling , receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text
  • RGS7-GNB5 complex shuttled between plasma membrane and nucleus through RGS7BP binding
  • basic FUNCTION
  • heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and
  • effector proteins, are composed of an alpha, a beta, and a gamma subunit
  • RGS7, RGS11, and their binding partner GNB5 are localized to the dendritic tips of retinal ON bipolar cells (ON-BPC), and act in parallel to regulate the kinetics of ON bipolar cell responses, with differential impacts on the rod and cone pathways
  • necessity of GNB5 for normal recovery in photoreceptors and light responses in ON-bipolar cellsand it may also be important for the generation and propagation of spontaneous retinal waves in retina and proper synapse formation in lateral geniculate nucleus (LGN)
  • is an essential stabilizer of such regulator of G protein signaling proteins and regulates the deactivation of retinal phototransduction and the proper functioning of retinal bipolar cells
  • role of GNB5 in the retina, and likely in the entire nervous system, mediated exclusively by RGS7 proteins
  • direct role of GNB5 in the control of heart rate, hypotonia, and vision
  • is crucial for parasympathetic control of heart rate, but not for sympathetic control, suggesting that lack of GNB5 is associated with extreme bradycardia at rest
  • importance of GNB5 for neuronal signaling, including the regulation of the antagonistic effects of the parasympathetic and sympathetic nervous system
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • RGS11 forms complexes with the atypical G protein beta subunit, GNB5, and transmembrane protein RGS9BP
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • guanine nucleotide binding
  • interact with and stabilize the R7 members of the regulators of G-protein signaling (RGSs): RGS6, RGS7, RGS9, and RGS11
  • PDCL seems to stabilize the interaction of GNB5 with TCP1 until GNB5 is folded, after which it is released to allow GNB5 to interact with RGS7
  • RGS9BP is required for stable expression of RGS11-GNB5 in ON-bipolar cell dendrites
  • interactions between DRD2 and GNB5 are not mediated by endogenously expressed RGS7 proteins
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MSBCD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice lacking Gnb5 have a markedly abnormal neurologic phenotype that includes impaired development, tiptoe-walking, motor learning and coordination deficiencies, and hyperactivity