GRIA2

Gene symbol GRIA2
Aliases GLUR2
Protein Name Glutamate receptor 2
Function Receptor for glutamate that functions as a ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Deficiency of Glur2 editing may lead to nervous disease.
Species Human;Rat;Mouse
Editing Sites 1
Disease Amyotrophic Lateral Sclerosis; Alzheimer's Disease; Lens Disease; Huntington's Disease; Neurodegenerative Diseases; Neuronal Death;
Description RNA editing levels at the GluA2 Q/R site is an association with some nervous system diseases and glioma.
RADR RADAR
REDIportal REDI portal
External links P42262(Uniport); NM_000826 (NM id); 2891 (NCBI gene id); GeneCard; GTEx
Sequence

Editing sites

Enzyme Editing type Region AA Seq Position NT Seq Position Codon Change Amino Acid Change Molecular Consequence Editing Level Tissue Editing Effect Phenotype Disease name PMID
  • ADAR2
A-to-I CDS 607 3198 CAG->CGG Q->R Nonsynonymous substitution Decreased Brain Deficiency of RNA editing in Q/R site of the GluA2 induces the loss of Ca2+ homeostasis. Promote neurodegenerative processes
  • ADAR2
A-to-I CDS 607 3198 CAG->CGG Q->R Nonsynonymous substitution Increased lens brain Deficiency of RNA editing in Q/R site of the GluA2 induces the loss of Ca2+ homeostasis. Promote cataract occurrence
  • ADAR2
A-to-I CDS 607 3198 CAG->CGG Q->R Nonsynonymous substitution Decreased Neuron Deficiency of RNA editing in Q/R site of the GluA2 induces the loss of Ca2+ homeostasis. Affect disease processing
  • ADAR2
A-to-I CDS 607 3198 CAG->CGG Q->R Nonsynonymous substitution Decreased Neuron Deficiency of RNA editing in Q/R site of the GluA2 induces the loss of Ca2+ homeostasis. Reduce RNA editing in disease
  • ADAR2
A-to-I CDS 607 3198 CAG->CGG Q->R Nonsynonymous substitution Decreased Neuron Deficiency of RNA editing in Q/R site of the GluA2 induces the loss of Ca2+ homeostasis. Reduce RNA editing in disease
  • ADAR2
A-to-I CDS 607 3198 CAG->CGG Q->R Nonsynonymous substitution Decreased Hippocampus Deficiency of RNA editing in Q/R site of the GluA2 induces the loss of Ca2+ homeostasis. Reduce RNA editing in disease
  • ADAR2
A-to-I CDS 764 NA NA R->G Alternative splicing Decreased Retinal ganglion cells Deficiency of RNA editing in Q/R site of the GluA2 induces the loss of Ca2+ homeostasis. Promote apoptpsis
  • ADAR2
A-to-I CDS 764 NA NA R->G Nonsynonymous substitution Decreased Neuron Deficiency of RNA editing in Q/R site of the GluA2 induces the loss of Ca2+ homeostasis. Reduce RNA editing in disease
  • ADAR2
A-to-I CDS 607 3198 CAG->CGG Q->R Nonsynonymous substitution Similar Cerebral cortex Deficiency of RNA editing in Q/R site of the GluA2 induces the loss of Ca2+ homeostasis. Unrelated
  • ADAR2
A-to-I CDS 607 3198 CAG->CGG Q->R Nonsynonymous substitution Increased Brain Deficiency of RNA editing in Q/R site of the GluA2 induces the loss of Ca2+ homeostasis. Reduce RNA editing in disease
  • ADAR2
A-to-I CDS 607 3198 CAG->CGG Q->R Nonsynonymous substitution Decreased HeLa cells Deficiency of RNA editing in Q/R site of the GluA2 induces the loss of Ca2+ homeostasis. Reduce RNA editing in disease
  • ADAR1
A-to-I intronic NA chr4:158258137 NA NA mRNA expression change Presence brain mRNA expression change RNA editing could contribute towards aberrant synaptic formation in ASD
  • ADAR1
A-to-I intronic NA chr4:158167691 NA NA mRNA expression change Presence brain mRNA expression change RNA editing could contribute towards aberrant synaptic formation in ASD
  • ADAR1
A-to-I intronic NA chr4:158258138 NA NA mRNA expression change Presence brain mRNA expression change RNA editing could contribute towards aberrant synaptic formation in ASD