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