GRID2 glutamate receptor, ionotropic, delta 2 [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: GRID2provided by HGNC
Official Full Name: glutamate receptor, ionotropic, delta 2provided by HGNC
Primary source: HGNC:4576
See related: Ensembl:ENSG00000152208; HPRD:06781; MIM:602368; Vega:OTTHUMG00000130975
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GluD2; MGC117022; MGC117023; MGC117024
Summary: Human glutamate receptor delta-2 (GRID2) is a relatively new member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. GRID2 is a predicted 1,007 amino acid protein that shares 97% identity with the mouse homolog which is expressed selectively in cerebellar Purkinje cells. A point mutation in mouse GRID2, associated with the phenotype named 'lurcher', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This strongly suggests a role for GRID2 in neuronal apoptotic death. [provided by RefSeq, Jul 2008]

Help top of page

Genomic context

Location :: 4q22

Sequence :: Chromosome: 4; NC_000004.11 (93225550..94693649)

See GRID2 in Epigenomics, MapViewer

Chromosome 4 - NC_000004.11 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Glutamate receptor delta2 is involved in a common mechanism that restricts the number of synaptic AMPA receptors at parallel fiber synapses in cerebellar Purkinje cells.
Title: Glutamate receptor δ2 is essential for input pathway-dependent regulation of synaptic AMPAR contents in cerebellar Purkinje cells.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Glutamatergic gene variants impact the clinical profile of efficacy and side effects of haloperidol.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: A whole genome association study of mother-to-child transmission of HIV in Malawi.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
The carboxy terminus of transgenic GluRdelta2 conveys the signal(s) necessary for long-term depression induction and motor learning.
Title: Differential regulation of synaptic plasticity and cerebellar motor learning by the C-terminal PDZ-binding motif of GluRdelta2.
Thus, phosphorylation of -2T and/or -1S of GluRdelta2 C-terminus by PKA may regulate the binding of GluRdelta2 to its scaffolding protein, Delphilin.
Title: Binding of glutamate receptor delta2 to its scaffold protein, Delphilin, is regulated by PKA.

Submit: New GeneRIF Correction

Help top of page

Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Help top of page

Products	Interactant	Other Gene	Source	Pubs	Description
NP_001501.1	NP_000818.1	GRIA1	BIND	PubMed	GluR1 interacts with GluR-delta-2
NP_001501.1	NP_068775.1	GRIK2	BIND	PubMed	GluR6 interacts with GluR-delta-2
O43424	O00189	AP4M1	HPRD	PubMed
O43424	Q15700	DLG2	HPRD	PubMed
O43424	O00423	EML1	HPRD	PubMed
O43424	Q9HD26	GOPC	HPRD	PubMed
O43424	P42261	GRIA1	HPRD	PubMed
O43424	Q13002	GRIK2	HPRD	PubMed
O43424	Q16478	GRIK5	HPRD	PubMed
O43424	Q86UL8	MAGI2	HPRD	PubMed
O43424	P29074	PTPN4	HPRD	PubMed
BioGRID:109152	BioGRID:121384	GOPC	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:109152	BioGRID:109147	GRIA1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109152	BioGRID:109148	GRIA2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109152	BioGRID:134314	GRID2IP	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:109152	BioGRID:109155	GRIK2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109152	BioGRID:109158	GRIK5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109152	BioGRID:111741	PTPN4	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid

Function	Evidence Code	Pubs
extracellular-glutamate-gated ion channel activity	IEA Inferred from Electronic Annotation more info
glutamate receptor activity	TAS Traceable Author Statement more info	PubMed
ion channel activity	IEA Inferred from Electronic Annotation more info
ionotropic glutamate receptor activity	IEA Inferred from Electronic Annotation more info
receptor activity	IEA Inferred from Electronic Annotation more info
transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
glutamate receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
ion transport	IEA Inferred from Electronic Annotation more info
prepulse inhibition	IEA Inferred from Electronic Annotation more info
regulation of excitatory postsynaptic membrane potential	IEA Inferred from Electronic Annotation more info
regulation of neuron apoptosis	IEA Inferred from Electronic Annotation more info
synaptic transmission, glutamatergic	IEA Inferred from Electronic Annotation more info
transport	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cell junction	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
outer membrane-bounded periplasmic space	IEA Inferred from Electronic Annotation more info
plasma membrane	IEA Inferred from Electronic Annotation more info
postsynaptic density	IEA Inferred from Electronic Annotation more info
postsynaptic membrane	IEA Inferred from Electronic Annotation more info
synapse	IEA Inferred from Electronic Annotation more info
synaptosome	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: glutamate receptor delta-2 subunit

Names: glutamate receptor delta-2 subunit; GluR-delta-2; gluR delta-2 subunit

Help top of page

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001510.2 → NP_001501.2 glutamate receptor delta-2 subunit precursor

Status: VALIDATED

Source sequence(s)

AB209318, BC099653

Consensus CDS

CCDS3637.1

UniProtKB/Swiss-Prot

O43424

Related

ENSP00000282020, OTTHUMP00000161600, ENST00000282020, OTTHUMT00000253588

Conserved Domains (5) summary

cd00134
Location:466 – 553
Blast Score: 148

PBPb; Bacterial periplasmic transport systems use membrane-bound complexes and substrate-bound, membrane-associated, periplasmic binding proteins (PBPs) to transport a wide variety of substrates, such as, amino acids, peptides, sugars, vitamins and inorganic ...

cd06391
Location:28 – 427
Blast Score: 2200

PBP1_iGluR_delta_2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the delta2 receptor of an orphan glutamate receptor family

pfam00060
Location:568 – 842
Blast Score: 743

Lig_chan; Ligand-gated ion channel

cl15306
Location:664 – 807
Blast Score: 403

PBPb; Bacterial periplasmic transport systems use membrane-bound complexes and substrate-bound, membrane-associated, periplasmic binding proteins (PBPs) to transport a wide variety of substrates, such as, amino acids, peptides, sugars, vitamins and inorganic ...

pfam01094
Location:42 – 401
Blast Score: 308

ANF_receptor; Receptor family ligand binding region

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000004.11 Reference GRCh37.p5 Primary Assembly

Range

93225550..94693649

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000136.1 Alternate HuRef

Range

88967871..90430993

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC020699.6	None
genomic	AC022317.8	AAY40938.1
genomic	AC093596.3	None
genomic	AC093733.2	AAY41014.1
genomic	AC095059.3	None
genomic	AC096769.3	None
genomic	AC104077.2	None
genomic	AC105315.5	None
genomic	AC105452.3	AAY40921.1
genomic	AC108158.5	None
genomic	AC110800.4 (1928..110013)	None
genomic	AC112695.3	AAY41015.1
genomic	AC115111.2	None
genomic	AC115537.2	None
genomic	CH471057.1	EAX06044.1
mRNA	AB209318.1	BAD92555.1
mRNA	AF009014.1	AAC39579.1
mRNA	AK302355.1	BAG63681.1
mRNA	AK308611.1	None
mRNA	AK310262.1	None
mRNA	BC099652.3	AAH99652.1
mRNA	BC099653.3	AAH99653.1
mRNA	BC099654.3	AAH99654.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
O43424.2	GenPept	UniProtKB/Swiss-Prot:O43424
Q4KKU8	GenPept	UniProtKB/TrEMBL:Q4KKU8
Q4W5B7	GenPept	UniProtKB/TrEMBL:Q4W5B7
Q4W5F4	GenPept	UniProtKB/TrEMBL:Q4W5F4
Q4W5L9	GenPept	UniProtKB/TrEMBL:Q4W5L9
Q4W5S4	GenPept	UniProtKB/TrEMBL:Q4W5S4