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FLASH GENE
Symbol GNAS contributors: mct/npt - updated : 08-09-2009
HGNC name GNAS complex locus
HGNC id 4392
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • ras-like GTPase domain with three regions named switches 1, 2 and 3 and including the sites for guanine nucleotide binding and effector interaction
  • secondary structure
  • an helical domain
  • conjugated LipoP , Other
    mono polymer heteromer , trimer
    HOMOLOGY
    interspecies ortholog to murine Gnas
    Homologene
    FAMILY
  • G-alpha family
  • G(s) subfamily
  • NESP55 family
  • CATEGORY regulatory , secretory , protooncogene , signaling , receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • putatively involved in secretory vesicle formation
  • involved in hormonal regulation of adenylate cyclase: activation of the cyclase in response to beta-adrenergic stimuli
  • proteolytically derived peptide (LSAL) antagonizing serotonergic receptor 5HT1RB
  • involved as modulators or transducers in various transmembrane signaling systems
  • primarily mediating the differential effects of parathyroid hormone on trabecular and cortical bone in osteoblasts
  • negatively regulating chondrocyte differentiation and acting as critical signaling mediator of the PTH/PTH-rP receptor in growth plate chondrocytes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • composed of 3 units (beta, gamma and alpha chain containing the guanine nucleotide binding site)
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP
  • protein
  • ALEX1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCAS , PHP1A , PHP1B , PHP1C , PPHP , POH , PAD , DEL20Q13
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    by partial and complete hypomethylation in Beckwith-Wiedemann syndrome (Bliek (2009)
    Susceptibility
  • to severe malaria
  • to vasovagal syncope
  • Variant & Polymorphism SNP
  • three SNP presenting significant associations with severe malaria were clustered at the 5-prime end (Auburn 2008)
  • mutation T/C inside codon 131 causes the increased activation of adenyl cyclase, which plays an important role in cardiovascular regulation, and predisposes to vasovagal syncope (Lelonek 2008)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS