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FLASH GENE
Symbol GRIK2 contributors: mlm/pgu - updated : 11-04-2019
HGNC name glutamate receptor, ionotropic, kainate 2
HGNC id 4580
Corresponding disease
MRT6 mental retardation autosomal recessive 6
Location 6q16.3      Physical location : 101.846.860 - 102.517.957
Synonym name
  • excitatory amino-acid receptor 4
  • glutamate receptor 6
  • glutamate receptor form A
  • Synonym symbol(s) GLUR6, EAA4, GLR6, GLK2, MGC74427, bA487F5.1, GLUK6, GLUK6, GluK2, MRT6
    DNA
    TYPE functioning gene
    STRUCTURE 671.05 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text
  • different splice variants involving the C-terminal domain (Barbon 2008)
  • five variants differnetially expressed, GLUR6A is brain-specific whereas GLUR6B, GLUR6C, GLUR6D, GLUR6E are expressed in fibroblast cell lines (specific for non-neuronal cells) (PMID: 20230879)
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 splicing 4592 102.6 908 . highly present on the surface of the plasma membrane 2008 18289788
  • isoform 1, GLUR6A
  • 17 splicing 4679 98 869 . poorly transported to the membrane 2008 18289788
  • isoform 2, GLUR6B
  • - splicing 4724 - 892 . poorly transported to the membrane . mainly expressed in non-neuronal cells and barely expressed in neuronal ones 2010 20230879
  • isoform 3, GLUR6C
  • can generate functional receptors with characteristics similar to the GLUR6B variant
  • might have unique properties in non-nervous cells and in the first stages of CNS development
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea  
    Nervousbraindiencephalonhypothalamus  
     brainhindbraincerebellum  
     gangliasensory gangliadorsal root  
     nerve    
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    Nervousperipherous   
    cell lineage
    cell lines fibroblast cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text RPE, choroid, eye
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four transmembrane segments (4TM)
  • C-terminal domain may contain residue(s) involved in the PKA-mediated potentiation, and protein-protein interactions at the C-terminal domain are important for regulating kainate receptor physiology
  • mono polymer homomer , heteromer , tetramer
    HOMOLOGY
    interspecies homolog to murine Grik2 (98.4pc)
    homolog to rattus Grik2 (98.8pc)
    Homologene
    FAMILY
  • glutamate-gated ion channel (TC 1.A.10) family
  • GRIK2 subfamily
  • CATEGORY receptor membrane , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • may be involved in the transmission of light information from the retina to the hypothalamus
  • might be involved in the maturation of microcircuits and network formation in brain areas that are important for higher brain functions, such as the hippocampus
  • mediating facilitatory effects of kainate on mossy fiber synaptic transmission, important modulator of mossy fiber synaptic strength
  • modulating cell surface expression of NETO2
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling neurotransmission
    a component
  • four subunits fonctioning as ligand-activated ion channels
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with GRIK1 AND KIF17
  • interacting with DLG4 and NETO2
  • KLHL17 is able to bind to GRIK2, a kainate-type glutamate receptor subunit, and target GRIK2 for degradation
  • GRIK1, GRIK2, interact with the spectrin-actin binding scaffolding protein EPB41L1 through a membrane-proximal domain in the C-terminal tail
  • regulation of GRIK2 by SGK1 and NDRG2 in astrocytes may play an important role in gliotransmission, modulation of gene expression and regulation of exocytosis of tissue-type plasminogen activator (tPA)
  • TTBK2 down-regulates GRIK2 activity by decreasing the receptor protein abundance in the cell membrane via RAB5A-dependent endocytosis, an effect that may protect against neuroexcitotoxicity
  • cell & other
    REGULATION
    Other phosphorylation by PKC regulates endocytosis of GRIK2 at the plasma membrane
    sumoylated by PIAS3 and desumoylated by SENP1
    subject to RNA editing at multiple sites, which is thought to alter the structure and fonction of the receptor complex
    ASSOCIATED DISORDERS
    corresponding disease(s) MRT6
    Susceptibility
  • may be associated with susceptibility for obsessive-compulsive disorder
  • to chronic fatigue syndrome (CFS)
  • Variant & Polymorphism SNP
  • G allele of rs2247215 (GRIK2) were more likely to have CFS and CFS subjects showed decreased GRIK2 expression
  • Candidate gene
  • for AUTS18
  • may be involved in the excitotoxicity in the pathogenesis of Huntington disease
  • Marker
    Therapy target
    ANIMAL & CELL MODELS