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FLASH GENE

Symbol

GRID2

contributors: mct - updated : 18-10-2016

HGNC name	glutamate receptor, ionotropic, delta 2
HGNC id	4576

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SCAR18 spinocerebellar ataxia, autosomal recessive 18
Location	4q22.1      Physical location : 93.225.549 - 94.693.648
Synonym symbol(s)	GLURD2, GluR-delta-2, MGC117022, MGC117023, MGC117024

DNA

TYPE	functioning gene
STRUCTURE	1506.08 kb     16 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001510 16 - 3282 113.2 1007 - 2014 24357660 NM_001286838 15 - 5069 NP_001273767 - 912 - 2014 24357660

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 hindbrain cerebellum   highly Homo sapiens Visual eye retina       Homo sapiens Adult

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining retinal pigment epithelium (RPE)     Homo sapiens Adult Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Nervous Purkinje cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal domain (NTD) interacts with presynaptic neurexins (NRXNs) through cerebellin 1 precursor protein (CBLN1) , and is necessary and sufficient for the function of GLUD2 in the regulation of parallel fiber-Purkinje cell synaptogenesis
	E2 region that is necessary, and also sufficient, to inhibit endocytosis of the receptor from postsynaptic membranes
	C-terminal region containing at least three domains for protein-protein interactions (ZO1-binding domain at the C terminal, named as the T site, interacts with several postsynaptic density proteins)

HOMOLOGY

interspecies

homolog to murine Grid2

Homologene

FAMILY	glutamate-gated ion channel family
	ionotropic glutamate receptor family

CATEGORY

receptor membrane , transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
text	co-localizes with the GRID2 subunit at the Purkinje cell-parallel fiber synapses
	predominantly expressed on postsynaptic sites at parallel fiber (PF)-Purkinje cell synapses in the cerebellum

basic FUNCTION	postsynaptic GRID2 is a key regulator of the presynaptic active zone and postsynaptic density organization at parallel fiber-Purkinje cell synapses in the adult brain
	presence of GRID2 plays an important role in controlling cerebellar functioning
	excitatory neurotransmitter receptors playing an important role in cerebellar long-term depression, motor learning, motor coordination and synapse development
	BCL2L2 and GRID2 are two critical proteins acting in distinct pathways to regulate mitochondrial morphogenesis and control Purkinje cell dendrite development and synapse formation
	differently regulates parallel fiber synaptogenesis and cerebellar long-term depression (LTD) through the extracellular N-terminal domain and the cytoplasmic C-terminal end, respectively
	essential for cerebellar synapse formation
	potentially mediates cerebellar synapse formation by interacting with presynaptic NRXNs through CBLN1
	is part of the GRM11 signaling complex needed for cerebellar synaptic function and motor coordination
	novel functional role of GRID2 in the retina
	possible role for GRID2 as possible phenotype modifier in MVKD patients, especially in those with severe phenotypes
	can be a suppressor in TNF-induced neurodegeneration which may help to understand the main factors leading to autism

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	small molecule transport

PATHWAY

metabolism

signaling

neurotransmission

glutamate signaling pathway

a component

playing a role in neuronal apoptotic death

INTERACTION

DNA

RNA

small molecule

protein	GRID2IP is a GRID2-interacting protein, selectively expressed in Purkinje cell-parallel fiber synapses, and specifically interacting with the GRID2 C-terminus via its PDZ domain
	BCL2L2 and GRID2 might interact genetically to regulate mitochondria, autophagy, and neuronal function
	glial D-Serine regulates synaptic plasticity and cerebellar functions by interacting with GLUD2
	TNF regulates GRID2 gene expression by activating CDC42 and GOPC genes

cell & other

REGULATION

Other

role of TNF in regulation of GRID2 gene expression and its signalling pathway

ASSOCIATED DISORDERS

corresponding disease(s)

SCAR18

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function disrupts the time course of GRM1-dependent synaptic transmission at parallel fiber-Purkinje cells synapses

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	homozygous and heterozygous "lurcher" mice (Zuo, 97)
	GluRdelta2-/- mice display ataxia and impaired motor learning