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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

MRD6 , EIEE27

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed neurosensorial visual   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