GRIN2B
Summary: This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel which acts as an agonist binding site for glutamate. The NMDA receptors mediate a slow calcium-permeable component of excitatory synaptic transmission in the central nervous system. The NMDA receptors are heterotetramers of seven genetically encoded, differentially expressed subunits including NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The early expression of this gene in development suggests a role in brain development, circuit formation, synaptic plasticity, and cellular migration and differentiation. Naturally occurring mutations within this gene are associated with neurodevelopmental disorders including autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, and schizophrenia. [provided by RefSeq, Aug 2017].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:138252 Ensembl IDEnsembl:ENSG00000273079 HGNC IDHGNC:HGNC:4586 PHARMGKB IDPA28980 Map Location12p13.1 | |||||
GO terms in GRIN2B
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | ISS | GO:0005622 | intracellular |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005887 | integral component of plasma membrane |
| CC | ISS | GO:0009986 | cell surface |
Gene expression in normal tissue: GRIN2B
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GRIN2B
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-112314 | Neurotransmitter receptors and postsynaptic signal transmission |
| reactome | R-HSA-112315 | Transmission across Chemical Synapses |
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1266738 | Developmental Biology |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GRIN2B
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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