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FLASH GENE
Symbol GAD2 contributors: mct/npt/pgu - updated : 17-09-2013
HGNC name glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
HGNC id 4093
Location 10p12.1      Physical location : 26.505.235 - 26.593.491
Synonym name
  • autoantigen in insulin-dependent diabetes mellitus and immunogen for autoreactive B cells
  • glutamate decarboxylase 2
  • Synonym symbol(s) GAD65, DCE2, MGC161607, MGC161605, GAD-65
    EC.number 4.1.1.15
    DNA
    TYPE functioning gene
    STRUCTURE 88.25 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 2824 65 585 - 2005 15690345
  • fGAD65, full length form
  • 16 - 2419 65 585 - 2005 15690345
    - - - 30 - in mononuclear leucocytes (express GAD65 with its C-terminal segment truncated) 2012 22427928
  • fGAD65 is cleaved to form its truncated form (tGAD65)
  • is 2-3 times more active than the full length form (fGAD65)
  • calpain-mediated cleavage of fGAD65 is pathological, presumably due to decrease in the activity of synaptic vesicle - associated fGAD65 resulting in a decrease in the GABA synthesis
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary   
     pancreas   highly
    Nervousbraindiencephalonthalamus   Homo sapiens
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES globular
    STRUCTURE
    motifs/domains
  • pyridoxal-5'-phosphate-binding middle domain
  • epitopes cluster on the hydrophilic face at the C terminal domain
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Gad2
    Homologene
    FAMILY
  • group II decarboxylase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic,granule
    text
  • cytosolic, and associated to cytoplasmic vesicles
  • in neurons, cytosolic leaflet of golgi membranes and presynaptic clusters
  • mainly expressed in synaptic terminals
  • basic FUNCTION
  • catalyzing the production of gamma-aminobutyric acid from L-glutamic acid
  • play a central role in neurotransmission in higher vertebrates and is a typical autoantigen in several autoimmune diseases, such as insulin-dependent diabetes mellitus (IDDM), Stiff-man syndrome and autoimmune polyendocrine syndrome type I
  • rate limiting enzyme for conversion of glutamic acid to gamma-aminobutyric acid (GABA)
  • polygenic component of the complex mechanisms linking birth weight to further risk for metabolic diseases, possibly involving the pleiotropic effect of insulin on fetal growth and later on feeding behavior
  • important during sustained synaptic transmission
  • significant role of GAD2 in the synthesis of GABA acting extrasynaptically
  • importance of GAD2 for synthesis of GABA destined for extrasynaptic tonic inhibition, regulating epileptiform activity
  • GAD2 palmitoylation is important for the delivery of GAD2 to inhibitory synapses, suggesting that impairment of GAD2 palmitoylation may lead to altered inhibitory neurotransmission in Huntington disease
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • pyridoxal phosphate
  • protein
  • BASP1 could participate in the transport of GAD2 and GAD1 to the presynaptic termini and their retention on the synaptic vesicles as an anchoring protein
  • cell & other
  • cross reactivity between GAD65 (GAD2) and cytomegalovirus but not Coxsakie virus
  • REGULATION
    Other palmitoylation of GAD2 is required for its trafficking (PMID;
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to unipolar depression and to anxiety disorders
  • to alcohol dependence
  • Variant & Polymorphism other GAD2 -243 A > G variant may influence risk for alcohol dependence in some populations
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    miscelleaneouspain 
    GAD2 is a potential therapeutic targets in an epigenetic approach to the treatment of chronic pain
    ANIMAL & CELL MODELS