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FLASH GENE
Symbol CACNG2 contributors: mct - updated : 08-02-2012
HGNC name calcium channel, voltage-dependent, gamma subunit 2
HGNC id 1406
Corresponding disease
MRD10 mental retardation, autosomal dominant 10
Location 22q12.3      Physical location : 36.960.103 - 37.098.903
Synonym name
  • stargazin
  • neuronal voltage-gated calcium channel gamma-2 subunit
  • TARP gamma2
  • voltage-dependent calcium channel gamma-2 subunit
  • Synonym symbol(s) MGC138502, MGC138504, TARP-G2, FLJ41437, CU012974, MRD10
    DNA
    TYPE functioning gene
    STRUCTURE 138.80 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D22S283 - CACNG2 ,D22S1177 - D22S423 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 4523 35 323 - 2000 10643919
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainhindbraincerebellum highly
     brainlimbic systemhippocampus highly
     brainforebraincerebral cortex highly
    Respiratorylung    
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated GlycoP , PhosphoP
    mono polymer heteromer , pentamer
    HOMOLOGY
    interspecies homolog to rattus Cacng2 (98.5 pc)
    homolog to murine Cacng2 (98.8 pc)
    Homologene
    FAMILY
  • PMP22/EMP/MP20 family
  • CACNG subfamily
  • transmembrane AMPAR regulatory protein (TARP) family
  • CATEGORY structural protein , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,tight
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    text multi-pass membrane protein; concentrated in the postsynaptic area
    basic FUNCTION
  • calcium voltage-gated channel (VDCC), L type, dihydropyridine (DPH) sensitive, involved in forming protein-protein contact across the synaptic cleft
  • involved in GRIA1 synaptic trafficking
  • thought to stabilize the calcium channel in an inactivated (closed) state
  • essential for early development
  • have distinct roles in postsynaptic membranes under the regulation of different intracellular signaling pathways
  • intimately involved in the trafficking of glutamatergic AMPA receptors
  • regulates compartment-specific AMPAR trafficking, as well as activity-dependent plasticity in synaptic AMPAR rectification at cerebellar parallel fiber-to-stellate cell (PF-SC) synapses
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text
  • calcium channel (voltage-gated channel)
  • neuromuscular junction development
  • regulation of membrane potential
  • PATHWAY
    metabolism
    signaling neurotransmission
    transmission of nerve impulse
    a component
  • member of the L-type calcium channel composed of five subunits: alpha-1, alpha-2/delta, beta and gamma
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MAGUK (CASK)
  • GRIA1(controlling the synaptic trafficking of GRIA1)
  • interacting with the PDZ domains of DLG4/PSD-95 and DLG1/SAP97
  • may interact with GOPC
  • CACNG2-DLG4 interaction plays a key role to trap and transiently stabilize diffusing AMPARs in the postsynaptic density
  • fusing the cytoplasmic C terminus of CACNG2 to the C-terminal domains of either GRIA1 or the gonadotropin-releasing hormone receptor permits efficient trafficking from the endoplasmic reticulum and sorting to the basolateral membrane without altering other properties of either receptor
  • regulation of biophysical properties of CACNA1B are not exerted by direct modulation of the channel but via a Gbetagamma-dependent mechanism
  • interactions with and within the membrane play significant roles in TARP structure and directly visualize TARP functional mechanisms essential for AMPAR trafficking and clustering
  • cell & other
    REGULATION
    Other phosphorylation of Thr-321 impairs interaction with DLG1 and DLG4
    ASSOCIATED DISORDERS
    corresponding disease(s) MRD10
    Susceptibility to chronic pain following nerve injury
    Variant & Polymorphism other
  • polymorphisms are associated with chronic pain in a cohort of cancer patients who underwent breast surgery
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mutations in which have been associated with absence seizures, also known as petit-mal or spike-wave seizures
  • disrupted in the ataxic and epileptic mutant mouse, stargazer (stg)