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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

Corresponding disease	EIEE27 epileptic encephalopathy, early infantile, 27 MRD6 mental retardation, autosomal dominant 6
Location	12p13.1      Physical location : 13.714.409 - 14.133.022
Synonym name	N-methyl-D-aspartate receptor subunit 3
	glutamate [NMDA] receptor subunit epsilon-2
Synonym symbol(s)	NMDAR2B, NR2B, NME2, MGC142180, NR3, MGC142178, EIEE27, GluN2B, MRD6, hNR3, GLURE2

DNA

TYPE	functioning gene
STRUCTURE	418.61 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000834 13 - 5941 NP_000825 - 1484 - 2001 11400170

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain basal nuclei     lowly   brain forebrain cerebral cortex frontal     brain forebrain cerebral cortex parietal     brain forebrain cerebral cortex temporal     brain diencephalon hypothalamus suprachiasmatic nuclei   Homo sapiens   nerve cranial nerve

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune T cell Nervous glia Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, neonatal

Text	hippocampus, forebrain, brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a large intracellular C terminal domain
	four transmembrane segments (4TM)

conjugated

GlycoP

mono polymer

heteromer , dimer

HOMOLOGY

interspecies

homolog to murine Grin2b

Homologene

FAMILY

glutamate-regulated family of ion channels

CATEGORY

receptor membrane , transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
text	post synaptic membrane
	predominant at asymmetrical synapses of non-GABAergic neurons

basic FUNCTION	involved in excitatory neurotransmission, in neuronal cell death and in the epileptic hyperexcitability of dysplastic cortical regions
	involved in controlling T cell activation
	ligand-gated ion channel (Ca2+) transporting, when bound to glutamate and Mg2+ released
	playing a central role in long potentiation memory, and cognitive function
	with GRIA2, GRIA3, GRIA1, mediate fast synaptic transmission in the brain
	GRIN2B, GRIN2D play counteractive roles in temporal development and maturation of somatosensory maps without affecting the magnitude of critical period plasticity
	GRIN2B expressed at glutamatergic synapses on glutamatergic projection neurons facilitates refinement of ascending pathway synapses directly, whereas GRIN2D expressed at glutamatergic synapses on GABAergic interneurons delays it indirectly

CELLULAR PROCESS	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

development , nervous system

text	small molecule transport

PATHWAY

metabolism

signaling

neurotransmission

glutamate signaling pathway/excitatory neurotransmission

a component	N-methyl D-aspartate receptor 2, epsilon 2 subunit glutamate receptor
	heterodimers composed of the key receptor subunit GRIN1 and one or more of the four NMDAR2 subunits (GRIN2A, GRIN 2B, GRIN 2C, GRIN2D)
	dimer of GRIN1-GRIN2B heterodimers with the twofold symmetry axis running through the entire molecule composed of an amino terminal domain (ATD), a ligand-binding domain (LBD), and a transmembrane domain (TMD)

INTERACTION

DNA

RNA

small molecule	metal binding,
	Mg2+

protein	NRF1 co-regulates oxidative enzymes that generate energy and neurochemicals that consume energy related to glutamatergic neurotransmission, such as KIF17, GRIN1, and GRIN2B, thereby ensuring that energy production matches energy utilization at the molecular and cellular levels
	KIF17 differentially maintains the levels of GRIN2A and GRIN2B, and, when synapses are stimulated, the GRIN2B/KIF17 complex is upregulated on demand through CREB activity
	stable interaction between the PH domain of KALRN and the juxtamembrane region of GRIN2B preceding its cytosolic C-terminal domain
	novel and functionally important interaction between the NR2B subunit of the NMDA receptor and KALRNn, proteins known to be essential for normal synaptic plasticity
	DLG4 associated with NMDA receptors GRIN2A, GRIN2B via their PDZ1 and PDZ2 domains
	TSPYL2 regulated the expression of GRIN2A and GRIN2B
	both ARF6 activation through GRIN2B-IQSEC2 during early development and the transition from IQSEC2- to IQSEC1-dependent ARF6 signaling induced by the GRIN2B subunit switch are critical for the development of mature glutamatergic synapses
	interaction with FRMPD2,through second PDZ (PDZ2) domain binding to the C-terminus of GRIN2A and GRIN2B, two subunits of NMDA receptors

cell & other

REGULATION

activated by

selectively activated by the artificial glutamate analog N-methyl D-aspartate

Other

regulated by complex TBR1/CASK/TAF9 (transcriptional complex regulating expression of the GRIN2B)

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