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FLASH GENE
Symbol GRIN2B contributors: mct - updated : 08-10-2015
HGNC name glutamate receptor, ionotropic, N-methyl D-aspartate 2B
HGNC id 4586
ASSOCIATED DISORDERS
corresponding disease(s) MRD6 , EIEE27
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
in a schizophrenia-like syndrome produced by NMDA receptor antagonists
constitutional germinal mutation      
in individuals with mental retardation
constitutional germinal mutation      
sporadic autistic disorder
constitutional       loss of function
GRIN2B and GRIN2D-deficiency protected retinal ganglion cells (RGCs) from NMDA-induced excitotoxic retinal cell death
Susceptibility to schizophrenia
Variant & Polymorphism other polymorphism G1001C of GRIN1 asssociated to allele T4197C and T5988C of GRIN2B increasing the risk of schizophrenia
Candidate gene for bipolar disorder in Ashkenazim
Marker
Therapy target
SystemTypeDisorderPubmed
neurosensorialvisual 
GRIN2B and GRIN2D activity is a potential therapeutic strategy for the treatment of several retinal diseases
ANIMAL & CELL MODELS
  • Nmdar 2b knock out mice
  • mutant mice expressing the Nmdar 2b gene without the large intracellular C terminal domain
  • transgenic mice overexpressing the Nmdar 2b gene
  • phenotype of Grin2b-deficient mice is more severe, as they die perinatally due to severe developmental brain defects