Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol GNAT2 contributors: mct - updated : 01-06-2016
HGNC name guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
HGNC id 4394
Corresponding disease
ACHM4 achromatopsia 4
RCD2 retinal cone dystrophy 2
Location 1p13.3      Physical location : 110.145.889 - 110.155.705
Synonym name
  • cone-type transducin alpha subunit
  • transducin alpha-2 chain
  • Synonym symbol(s) GTA2, GNATC, GBT2, ACHM4
    DNA
    TYPE functioning gene
    STRUCTURE 9.00 kb     8 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (CAAT box) (TATA box)
    Binding site   silencer
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text several initiation sites
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1384 40 354 - -
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemprostate   
     male systemtestis   
    Visualeye   predominantly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelial    
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualrod photoreceptor
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text cochlea
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • GTPase domain made of three regions named switches 1, 2 and 3
  • the sites for guanine nucleotide binding (P-loop) and effector interaction
  • an helical domain
  • a C terminal prenyl attachment group
  • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to murine Gnat2
    Homologene
    FAMILY
  • G alpha family, subfamily 1
  • CATEGORY regulatory , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
    text outer segment of the rod cells
    basic FUNCTION
  • stimulating the coupling of opsin ans cGMP phosphodiesterase during visual impulses
  • modulator or transducer in various membrane signaling systems
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    phosphotransduction
    a component
  • heterotrimeric G protein complex
  • part of heterotrimeric G-protein, cone transducin, comprising GNAT2, GNB3 and GNGT2 subunits
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP binding
  • protein
  • activating cGMP-phosphodiesterase leading to towing of cGMP concentration and closure of the cGMP dependent cation channels
  • cell & other
    REGULATION
    activated by light
    ASSOCIATED DISORDERS
    corresponding disease(s) ACHM4 , RCD2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS