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FLASH GENE
Symbol GRID2 contributors: mct - updated : 18-10-2016
HGNC name glutamate receptor, ionotropic, delta 2
HGNC id 4576
Corresponding disease
SCAR18 spinocerebellar ataxia, autosomal recessive 18
Location 4q22.1      Physical location : 93.225.549 - 94.693.648
Synonym symbol(s) GLURD2, GluR-delta-2, MGC117022, MGC117023, MGC117024
DNA
TYPE functioning gene
STRUCTURE 1506.08 kb     16 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
SPP1 4q21-q25 secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1) PKD2 4q22 polycystic kidney disease 2 (autosomal dominant) ABCG2 4q22 ATP-binding cassette, sub-family G (WHITE), member 2 DKFZp761G058 4q22.1 hypothetical protein DKFZp761G058 CEB1 4q22.1-q23 hypothetical protein DKFZp761G058 MGC14156 4q22.1 hypothetical protein MGC14156 HERC3 4q21 hect domain and RLD 3 DRLM FAM13A1 4q21 family with sequence similarity 13, member A1 LOC389211 4 similar to expressed sequence AW060714 TIGD2 4q21.3 tigger transposable element derived 2 LOC285513 4q22.1 hypothetical protein LOC285513 SNCA 4q21-q22 synuclein, alpha (non A4 component of amyloid precursor) MMRN 4q22 multimerin KIAA1680 4q22 multimerin TMSL3 4q22.1 thymosin-like 3 LOC389212 4 LOC389212 LOC133083 4q22.2 similar to mitochondrial matrix processing protease, alpha subunit GRID2 4q22 glutamate receptor, ionotropic, delta 2 ATOH1 4q22 atonal homolog 1 (Drosophila) SMARCAD1 4q22-q23 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 PGDS 4q22.1-q23 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 LIM 4q22 LIM protein (similar to rat protein kinase C-binding enigma) LOC389213 4 similar to hypothetical protein FLJ33610 BMPR1B 4q23-q24 bone morphogenetic protein receptor, type IB UNC5C 4q21-q23 unc-5 homolog C (C. elegans) PDHA2 4q22-q23 pyruvate dehydrogenase (lipoamide) alpha 2
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
16 - 3282 113.2 1007 - 2014 24357660
15 - 5069 - 912 - 2014 24357660
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrainhindbraincerebellum highly Homo sapiens
Visualeyeretina    Homo sapiensAdult
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier liningretinal pigment epithelium (RPE)   Homo sapiensAdult
Nervouscentral   
cells
SystemCellPubmedSpeciesStageRna symbol
NervousPurkinje cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal domain (NTD) interacts with presynaptic neurexins (NRXNs) through cerebellin 1 precursor protein (CBLN1) , and is necessary and sufficient for the function of GLUD2 in the regulation of parallel fiber-Purkinje cell synaptogenesis
  • E2 region that is necessary, and also sufficient, to inhibit endocytosis of the receptor from postsynaptic membranes
  • C-terminal region containing at least three domains for protein-protein interactions (ZO1-binding domain at the C terminal, named as the T site, interacts with several postsynaptic density proteins)
  • HOMOLOGY
    interspecies homolog to murine Grid2
    Homologene
    FAMILY
  • glutamate-gated ion channel family
  • ionotropic glutamate receptor family
  • CATEGORY receptor membrane , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • co-localizes with the GRID2 subunit at the Purkinje cell-parallel fiber synapses
  • predominantly expressed on postsynaptic sites at parallel fiber (PF)-Purkinje cell synapses in the cerebellum
  • basic FUNCTION
  • postsynaptic GRID2 is a key regulator of the presynaptic active zone and postsynaptic density organization at parallel fiber-Purkinje cell synapses in the adult brain
  • presence of GRID2 plays an important role in controlling cerebellar functioning
  • excitatory neurotransmitter receptors playing an important role in cerebellar long-term depression, motor learning, motor coordination and synapse development
  • BCL2L2 and GRID2 are two critical proteins acting in distinct pathways to regulate mitochondrial morphogenesis and control Purkinje cell dendrite development and synapse formation
  • differently regulates parallel fiber synaptogenesis and cerebellar long-term depression (LTD) through the extracellular N-terminal domain and the cytoplasmic C-terminal end, respectively
  • essential for cerebellar synapse formation
  • potentially mediates cerebellar synapse formation by interacting with presynaptic NRXNs through CBLN1
  • is part of the GRM11 signaling complex needed for cerebellar synaptic function and motor coordination
  • novel functional role of GRID2 in the retina
  • possible role for GRID2 as possible phenotype modifier in MVKD patients, especially in those with severe phenotypes
  • can be a suppressor in TNF-induced neurodegeneration which may help to understand the main factors leading to autism
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text small molecule transport
    PATHWAY
    metabolism
    signaling neurotransmission
    glutamate signaling pathway
    a component
  • playing a role in neuronal apoptotic death
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • GRID2IP is a GRID2-interacting protein, selectively expressed in Purkinje cell-parallel fiber synapses, and specifically interacting with the GRID2 C-terminus via its PDZ domain
  • BCL2L2 and GRID2 might interact genetically to regulate mitochondria, autophagy, and neuronal function
  • glial D-Serine regulates synaptic plasticity and cerebellar functions by interacting with GLUD2
  • TNF regulates GRID2 gene expression by activating CDC42 and GOPC genes
  • cell & other
    REGULATION
    Other role of TNF in regulation of GRID2 gene expression and its signalling pathway
    ASSOCIATED DISORDERS
    corresponding disease(s) SCAR18
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    disrupts the time course of GRM1-dependent synaptic transmission at parallel fiber-Purkinje cells synapses
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • homozygous and heterozygous "lurcher" mice (Zuo, 97)
  • GluRdelta2-/- mice display ataxia and impaired motor learning