GRIK2 glutamate receptor, ionotropic, kainate 2 [Homo sapiens] - Gene

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Summary

Official Symbol: GRIK2provided by HGNC
Official Full Name: glutamate receptor, ionotropic, kainate 2provided by HGNC
Primary source: HGNC:4580
See related: Ensembl:ENSG00000164418; HPRD:00692; MIM:138244; Vega:OTTHUMG00000016328
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EAA4; GLR6; MRT6; GLUK6; GLUR6; GluK2; MGC74427
Summary: Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing at multiple sites within the first and second transmembrane domains, which is thought to alter the structure and function of the receptor complex. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. Mutations in this gene have been associated with autosomal recessive mental retardation. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 6q16.3

Sequence :: Chromosome: 6; NC_000006.11 (101846861..102517958)

See GRIK2 in Epigenomics, MapViewer

Chromosome 6 - NC_000006.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

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

Convergent functional genomics allowed the identification of novel candidate genes, GRIK2 and NPAS2, involved in glutamatergic neurotransmission and the circadian rhythm, respectively, that are potentially associated with CFS.
Title: Convergent genomic studies identify association of GRIK2 and NPAS2 with chronic fatigue syndrome.
Genotyping and linkage analysis excluded linkage of the GRIK2 gene and TUSC3 gene with mental retardation.
Title: Non-syndromic autosomal recessive mental retardation in Tunisian families : exclusion of GRIK2 and TUSC3 genes.
This study supports previously reported findings of association between proximal GRIK2 single nucleotide polymorphism and obsessive-compulsive disorder in a comprehensive evaluation of the gene
Title: Association between polymorphisms in GRIK2 gene and obsessive-compulsive disorder: a family-based study.
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.
human GluK2 is a slowly activating channel but more sensitive to glutamate, as compared to the rat ortholog; the M867I mutation does not affect the rate the equilibrium constants of the channel opening but does slow down the channel desensitization rate
Title: Channel-opening kinetic mechanism for human wild-type GluK2 and the M867I mutant kainate receptor.
Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
Title: Linkage and candidate gene studies of autism spectrum disorders in European populations.
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.
Spliced variants of ionotropic glutamate receptor GluR6 is associated with astrocytoma.
Title: Novel spliced variants of ionotropic glutamate receptor GluR6 in normal human fibroblast and brain cells are transcribed by tissue specific promoters.
phosphorylation of PKC sites on GluR6 regulates surface expression of GluR6 at distinct intracellular trafficking pathways
Title: Differential regulation of kainate receptor trafficking by phosphorylation of distinct sites on GluR6.
Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Molecular genetics of successful smoking cessation: convergent genome-wide association study results.

Submit: New GeneRIF Correction See all (32)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Genome-wide association study of biochemical traits in Korcula Island, Croatia.

Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.

Mental retardation, autosomal recessive, 6

MIM: 611092

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_068775.1	NP_001501.1	GRID2	BIND	PubMed	GluR6 interacts with GluR-delta-2
Q13002	O14936	CASK	HPRD	PubMed
Q13002	P19022	CDH2	HPRD	PubMed
Q13002	P35222	CTNNB1	HPRD	PubMed
Q13002	O60716	CTNND1	HPRD	PubMed
Q13002	Q12959	DLG1	HPRD	PubMed
Q13002	Q92796	DLG3	HPRD	PubMed
Q13002	P78352	DLG4	HPRD	PubMed
Q13002	P42261	GRIA1	HPRD	PubMed
Q13002	O43424	GRID2	HPRD	PubMed
Q13002	Q13002	GRIK2	HPRD	PubMed
Q13002	Q16099	GRIK4	HPRD	PubMed
Q13002	Q16478	GRIK5	HPRD	PubMed
Q13002	Q9HAP6	LIN7B	HPRD	PubMed
Q13002	Q9NRD5	PICK1	HPRD	PubMed
Q13002	Q13131	PRKAA1	HPRD	PubMed
Q13002	O00560	SDCBP	HPRD	PubMed
BioGRID:109155	BioGRID:108083	DLG1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109155	BioGRID:108085	DLG3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109155	BioGRID:108086	DLG4	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109155	BioGRID:109147	GRIA1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109155	BioGRID:109148	GRIA2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109155	BioGRID:109152	GRID2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109155	BioGRID:109158	GRIK5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109155	BioGRID:116995	GRIP1	BioGRID	PubMed	Reconstituted Complex
BioGRID:109155	BioGRID:114849	PICK1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:109155	BioGRID:112287	SDCBP	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid

Function	Evidence Code	Pubs
PDZ domain binding	IEA Inferred from Electronic Annotation more info
extracellular-glutamate-gated ion channel activity	IEA Inferred from Electronic Annotation more info
ion channel activity	IEA Inferred from Electronic Annotation more info
kainate selective glutamate receptor activity	IDA Inferred from Direct Assay more info	PubMed
protein homodimerization activity	IEA Inferred from Electronic Annotation more info
receptor activity	IEA Inferred from Electronic Annotation more info
ubiquitin conjugating enzyme binding	IEA Inferred from Electronic Annotation more info
ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
behavioral fear response	IEA Inferred from Electronic Annotation more info
cellular calcium ion homeostasis	IEA Inferred from Electronic Annotation more info
glutamate receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
induction of programmed cell death in response to chemical stimulus	NAS Non-traceable Author Statement more info	PubMed
intracellular protein transport	IEA Inferred from Electronic Annotation more info
ion transport	IEA Inferred from Electronic Annotation more info
negative regulation of neuron apoptosis	IEA Inferred from Electronic Annotation more info
negative regulation of synaptic transmission, glutamatergic	IEA Inferred from Electronic Annotation more info
neuron apoptosis	IDA Inferred from Direct Assay more info	PubMed
positive regulation of synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
receptor clustering	IEA Inferred from Electronic Annotation more info
regulation of JNK cascade	IEA Inferred from Electronic Annotation more info
regulation of action potential in neuron	IEA Inferred from Electronic Annotation more info
regulation of excitatory postsynaptic membrane potential	IEA Inferred from Electronic Annotation more info
regulation of inhibitory postsynaptic membrane potential	IEA Inferred from Electronic Annotation more info
regulation of long-term neuronal synaptic plasticity	IEA Inferred from Electronic Annotation more info
regulation of membrane potential	IEA Inferred from Electronic Annotation more info
regulation of short-term neuronal synaptic plasticity	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
signal transduction	IEA Inferred from Electronic Annotation more info
synaptic transmission	TAS Traceable Author Statement more info
transport	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
axon	IEA Inferred from Electronic Annotation more info
cell junction	IEA Inferred from Electronic Annotation more info
dendrite cytoplasm	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
kainate selective glutamate receptor complex	IEA Inferred from Electronic Annotation more info
membrane fraction	IEA Inferred from Electronic Annotation more info
perikaryon	IEA Inferred from Electronic Annotation more info
plasma membrane	TAS Traceable Author Statement more info
postsynaptic membrane	IEA Inferred from Electronic Annotation more info
presynaptic membrane	IEA Inferred from Electronic Annotation more info
synapse	IEA Inferred from Electronic Annotation more info
terminal button	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: glutamate receptor, ionotropic kainate 2

Names: glutamate receptor, ionotropic kainate 2; gluR-6; bA487F5.1; glutamate receptor 6; glutamate receptor form A; glutamate receptor form B; glutamate receptor form C; glutamate receptor form D; glutamate receptor form E; excitatory amino acid receptor 4

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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.

Genomic

NG_009224.2 RefSeqGene

Range

4957..676054

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001166247.1 → NP_001159719.1 glutamate receptor, ionotropic kainate 2 isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an additional exon in the 3' coding region, compared to transcript variant 1. The resulting isoform (3) is shorter and has a distinct C-terminus compared to isoform 1. RNA editing changes Ile567Val, Tyr571Cys and Gln621Arg.

Source sequence(s)

AJ252246, AP002530, BC037954

Consensus CDS

CCDS55045.1

UniProtKB/Swiss-Prot

Q13002

UniProtKB/TrEMBL

Q8IY40

Related

ENSP00000358134, OTTHUMP00000017951, ENST00000369138, OTTHUMT00000043720

Conserved Domains (5) summary

cd00134
Location:433 – 550
Blast Score: 157

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 ...

pfam00060
Location:562 – 831
Blast Score: 938

Lig_chan; Ligand-gated ion channel

cl15306
Location:667 – 801
Blast Score: 470

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:52 – 395
Blast Score: 597

ANF_receptor; Receptor family ligand binding region

cl10011
Location:34 – 414
Blast Score: 1719

Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
NM_021956.4 → NP_068775.1 glutamate receptor, ionotropic kainate 2 isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1). RNA editing changes Ile567Val, Tyr571Cys and Gln621Arg.

Source sequence(s)

AK289542, AP002530, BC037954, U16126

Consensus CDS

CCDS5048.1

UniProtKB/TrEMBL

A8K0H7

UniProtKB/TrEMBL

D7RWZ3

UniProtKB/Swiss-Prot

Q13002

UniProtKB/TrEMBL

Q8IY40

Related

ENSP00000397026, OTTHUMP00000017949, ENST00000421544, OTTHUMT00000043718

Conserved Domains (5) summary

cd00134
Location:433 – 550
Blast Score: 159

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 ...

pfam00060
Location:562 – 831
Blast Score: 941

Lig_chan; Ligand-gated ion channel

cl15306
Location:667 – 801
Blast Score: 471

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:52 – 395
Blast Score: 600

ANF_receptor; Receptor family ligand binding region

cl10011
Location:34 – 414
Blast Score: 1719

Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
NM_175768.3 → NP_786944.1 glutamate receptor, ionotropic kainate 2 isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an additional exon in the 3' coding region, compared to transcript variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus compared to isoform 1. RNA editing changes Ile567Val, Tyr571Cys and Gln621Arg.

Source sequence(s)

AJ301610, AK289542, AP002530, BC037954

Consensus CDS

CCDS5049.1

UniProtKB/TrEMBL

A8K0H7

UniProtKB/Swiss-Prot

Q13002

UniProtKB/TrEMBL

Q8IY40

Related

ENSP00000405596, OTTHUMP00000017950, ENST00000413795, OTTHUMT00000043719

Conserved Domains (5) summary

cd00134
Location:433 – 550
Blast Score: 158

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 ...

pfam00060
Location:562 – 831
Blast Score: 937

Lig_chan; Ligand-gated ion channel

cl15306
Location:667 – 801
Blast Score: 470

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:52 – 395
Blast Score: 597

ANF_receptor; Receptor family ligand binding region

cl10011
Location:34 – 414
Blast Score: 1719

Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily

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_000006.11 Reference GRCh37.p5 Primary Assembly

Range

101846861..102517958

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000138.1 Alternate HuRef

Range

99289230..99962155

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL109919.18 (96078..147502)	None
genomic	AL355532.10	CAC25104.1
genomic	AL357058.10	None
genomic	AP002528.1 (169979..193835)	None
genomic	AP002529.1	None
genomic	AP002530.2	None
genomic	CH471051.2	EAW48446.1
		EAW48447.1
		EAW48448.1
mRNA	AI087397.1	None
mRNA	AJ252246.1	CAC81020.1
mRNA	AJ301608.1	CAC67485.1
mRNA	AJ301609.1	CAC67486.1
mRNA	AJ301610.1	CAC67487.1
mRNA	AK289542.1	BAF82231.1
mRNA	AK291965.1	BAF84654.1
mRNA	AK303721.1	BAH14032.1
mRNA	AW949408.1	None
mRNA	BC037954.1	AAH37954.1
mRNA	BC063814.1	AAH63814.1
mRNA	BM722353.1	None
mRNA	BQ717946.1	None
mRNA	HM149335.1	ADH93569.1
mRNA	HM149336.1	ADH93570.1
mRNA	HM149337.1	ADH93571.1
mRNA	HM149338.1	ADH93572.1
mRNA	HM149339.1	ADH93573.1
mRNA	S75105.1	None
mRNA	U16126.1	AAC50420.1
other-genetic	JF432691.1	ADZ15908.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q13002.1	GenPept	UniProtKB/Swiss-Prot:Q13002
Q6P3V6	GenPept	UniProtKB/TrEMBL:Q6P3V6
Q8IY40	GenPept	UniProtKB/TrEMBL:Q8IY40
Q9BZ15	GenPept	UniProtKB/TrEMBL:Q9BZ15