Primary Identifier | MGI:95821 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 14812 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables NMDA glutamate receptor activity; calcium channel activity; and neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential. Involved in negative regulation of dendritic spine maintenance. Acts upstream of or within several processes, including behavioral fear response; detection of mechanical stimulus involved in sensory perception of pain; and learning or memory. Located in several cellular components, including cytoplasmic vesicle; postsynaptic density; and synaptic membrane. Part of NMDA selective glutamate receptor complex. Is active in glutamatergic synapse and postsynaptic density membrane. Is expressed in several structures, including adipose tissue; central nervous system; eye; genitourinary system; and gut. Human ortholog(s) of this gene implicated in several diseases, including alcohol use disorder; autosomal dominant intellectual developmental disorder 6; developmental and epileptic encephalopathy 27; neurodegenerative disease (multiple); and nicotine dependence. Orthologous to human GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B). PHENOTYPE: Homozygotes for targeted null mutations exhibit impairments in suckling, hippocampal long term depression, and pattern formation of trigeminal nucleus sensory afferent terminals. Mutants die shortly after birth. Kinase-dead mutants display ant-depressive behavior. [provided by MGI curators] |