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FLASH GENE
Symbol GNA11 contributors: mct - updated : 21-02-2015
HGNC name guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
HGNC id 4379
Location 19p13.3      Physical location : 3.094.407 - 3.121.452
DNA
TYPE functioning gene
STRUCTURE 27.01 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned   linked   status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 1615 - 359 - 2009 19332487
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinepancreas   moderately
Nervousbrain   highly
Reproductivemale systemprostate  moderately
Respiratorylung   highly
Urinarykidney   moderately
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a GTPase domain with three regions named switches 1, 2 and 3 and including the sites for guanine nucleotide binding and effector interaction
  • an helical domain
    • HOMOLOGY
    intraspecies paralog to GNAQ
    Homologene
    FAMILY
  • G-alpha family
  • G(q) subfamily
    • CATEGORY signaling , receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • mediating pertussis toxin-resistant stimulation of phospholipase C beta
  • involved as modulators or transducers in various
    • transmembrane signaling systems
  • involved in signaling of gonadotropin-releasing hormone receptor, which negatively regulates cell growth
  • acting as an activator of phospholipase C
  • endothelial GNAQ/GNA11-mediated signaling as a critical mediator of fatal systemic anaphylaxis
  • GNAQ and GNA11 contribute to the maintenance of cellular electrophysiology and Ca2+ handling in ventricular cardiomyocytes
  • contribute to T lymphocyte migration by promoting turnover of integrin ITGAL through recycling
  • GNA11 and GNA14 induce changes in cellular morphology and growth-factor independence via MAPK activation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • guanine nucleotide binding
  • KISS1R regulates ERK1/2 activity and hypothalamic gene expression in a GNAQ/GNA11 and ARRB-dependent manner
  • ADRBK1 selectively interacts with GNAQ/GNA11 family that are released during G protein-coupled receptor activation
    • cell & other
    REGULATION
    Phosphorylated by PRKC and CAMK1 contributing to agonist-induced homologous desensitization of HTR2A signaling as well as heterologous desensitization
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in breast cancer
    tumoral somatic mutation      
    in uveal melanoma
    tumoral somatic mutation      
    in primary melanocytic tumours of the CNS, GNA11 and NRAS mutations represent a mechanism of MAPK pathway activation alternative to the common GNAQ mutations( :
    tumoral somatic mutation     gain of function
    in iris melanomas
    Susceptibility to uveal melanoma, and rapidly involuting congenital hemangioma [RICH] or non-involuting congenital hemangioma [NICH]
    Variant & Polymorphism other
  • Glu209 GNAQ and GNA11 missense variants we identified are common in uveal melanoma, and in rapidly involuting congenital hemangioma [RICH] or non-involuting congenital hemangioma [NICH]
    • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    allergy  
    potential new target to prevent or treat anaphylactic reactions
    ANIMAL & CELL MODELS