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FLASH GENE

Symbol

GRIN2D

contributors: mct - updated : 16-11-2016

HGNC name	glutamate receptor, ionotropic, N-methyl D-aspartate 2D
HGNC id	4588

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EIEE46 epileptic encephalopathy, early infantile, 46
Location	19q13.33      Physical location : 48.898.131 - 48.948.187
Synonym name	estrogen receptor binding cpG island
	N-methyl-d-aspartate receptor subunit 2D
	glutamate [NMDA] receptor subunit epsilon-4
Synonym symbol(s)	EB11, NME4, NMDAR2D, NR2D, GluN2D, GLURE4

DNA

TYPE	functioning gene
STRUCTURE	50.06 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site   hormone
text structure	half-palindromic
	estrogen-responsive elements (EREs)

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000836 13 - 5109 NP_000827 141.3 1336 - 1998 9489750 variant 2 - - 6000 isoform 2 - - osteosarcoma cell line 1998 9418891

EXPRESSION

Type

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 midbrain substantia nigra   predominantly Homo sapiens   brain basal nuclei globus pallidus   predominantly Homo sapiens   brain diencephalon hypothalamus suprachiasmatic nuclei moderately Homo sapiens   brain basal nuclei striatum   predominantly Homo sapiens   brain limbic system hippocampus   highly Mus musculus Reproductive female system breast mammary gland   highly

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Skin/Tegument keratinocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

four transmembrane domains

conjugated

GlycoP

mono polymer

heteromer , dimer

HOMOLOGY

interspecies	ortholog to rattus Grin2d
	ortholog to murine Grin2d

Homologene

FAMILY

glutamate-regulated family of ion channels

CATEGORY

receptor membrane , transport channel

SUBCELLULAR LOCALIZATION	plasma membrane,junction
text	postsynaptic membrane
	selective to asymmetrical synapses of GABAergic neurons

basic FUNCTION	involved in excitatory neurotransmission and in neuronal cell death
	playing a central role in long potentiation, verbal long potentiation memory and cognitive function
	ligand-gated ion channel (Ca2+) transporting, when bound to glutamate and Mg2+ released
	activity of the GRIN1/GRIN2D NMDA receptor is controlled distinctively by the endogenous neurotransmitter L-glutamate
	role for GRIN2D-containing NMDARs and adaptive changes in experimental Parkinsonism
	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
	role for GRIN2D in endothelial function and angiogenesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development , nervous system

text	ion transport

PATHWAY

metabolism

signaling

neurotransmission

a component	heterodimerizing with GRIN1
	N-methyl D-aspartate receptor 2, epsilon 4 subunit glutamate receptor
	heteromers composed of the key receptor subunit GRIN1 and one or more of the four NMDAR2 subunits (GRIN2A, GRIN2B, GRIN2C, GRIN2D)
	GRIN2D-containing NMDARs participate likely in excitatory synaptic transmission onto hippocampal interneurons

INTERACTION

DNA

RNA

small molecule	metal binding,
	Mg2+
	Ca2+

protein	PLAT influences spatial memory through its preferential interaction with GRIN2D subunit-containing NMDARs
	DOCK3, a guanine nucleotide exchange factor, binds to the GRIN2D C-terminal domain and reduces the surface expression of GRIN2D, thereby protecting retinal ganglion cells (RGCs) from excitotoxicity

cell & other

REGULATION

activated by

the artificial glutamate analog N-methyl D-aspartate (selectively)

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE46

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function GRIN2B and GRIN2D-deficiency protected retinal ganglion cells (RGCs) from NMDA-induced excitotoxic retinal cell death

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	its expression was shown be predictive of improved survival in CRC
Therapy target
	System Type Disorder Pubmed cancer digestive colon promising target for the future treatment of colorectal cancer neurology neurodegenerative Parkinson/dementia Parkinsonism may represent potential therapeutic targets for modulating subthalamic neuron activity in neurological disorders such as Parkinson disease neurology neurodegenerative alzheimer GRIN2D and DOCK3 might be potential therapeutic targets for treating neurodegenerative diseases such as Alzheimer disease neurosensorial visual   GRIN2D and DOCK3 might be potential therapeutic targets for treating normal tension glaucoma

ANIMAL & CELL MODELS

Nmdar 2d knock out mice