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Aliases for GRIK2 Gene

Aliases for GRIK2 Gene

  • Glutamate Receptor, Ionotropic, Kainate 2 2 3
  • GLUR6 3 4 6
  • Excitatory Amino Acid Receptor 4 3 4
  • Glutamate Receptor 6 3 4
  • GluR-6 3 4
  • GluK2 3 4
  • MRT6 3 6
  • EAA4 3 4
  • Glutamate Receptor Ionotropic, Kainate 2 3
  • Glutamate Receptor Form A 3
  • Glutamate Receptor Form B 3
  • Glutamate Receptor Form C 3
  • Glutamate Receptor Form D 3
  • Glutamate Receptor Form E 3
  • BA487F5.1 3
  • GLUK6 3
  • GLR6 3

External Ids for GRIK2 Gene

Previous Symbols for GRIK2 Gene

  • GLUR6

Summaries for GRIK2 Gene

Entrez Gene Summary for GRIK2 Gene

  • 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]

GeneCards Summary for GRIK2 Gene

GRIK2 (Glutamate Receptor, Ionotropic, Kainate 2) is a Protein Coding gene. Diseases associated with GRIK2 include autosomal recessive non-syndromic intellectual disability and juvenile absence epilepsy. Among its related pathways are CREB Pathway and CREB Pathway. GO annotations related to this gene include extracellular-glutamate-gated ion channel activity and kainate selective glutamate receptor activity. An important paralog of this gene is GRID2.

UniProtKB/Swiss-Prot for GRIK2 Gene

  • Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. May be involved in the transmission of light information from the retina to the hypothalamus. Modulates cell surface expression of NETO2 (By similarity).

Tocris Summary for GRIK2 Gene

  • Kainate receptors are members of the ionotropic class of glutamate receptors, which also includes NMDA and AMPA receptors. Kainate receptors have been identified both pre- and post-synaptically. The receptors contribute to excitatory postsynaptic currents in many regions of the CNS and play a role in short- and long-term synaptic plasticity. Kainate receptors consist of GluR5-7 and KA1-2 subunits. Each subunit has an extracellular N-terminus, a cytoplasmic C-terminus, three membrane-spanning segments and a p-loop that dips into the membrane from the cytoplasmic face to form the pore.

Gene Wiki entry for GRIK2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GRIK2 Gene

Genomics for GRIK2 Gene

Genomic Location for GRIK2 Gene

Start:
101,393,708 bp from pter
End:
102,070,083 bp from pter
Size:
676,376 bases
Orientation:
Plus strand

Genomic View for GRIK2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GRIK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRIK2 Gene

Regulatory Elements for GRIK2 Gene

Proteins for GRIK2 Gene

  • Protein details for GRIK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13002-GRIK2_HUMAN
    Recommended name:
    Glutamate receptor ionotropic, kainate 2
    Protein Accession:
    Q13002
    Secondary Accessions:
    • A6NMY9
    • B5MCV0
    • D7RWZ3
    • D7RWZ4
    • D7RWZ5
    • D7RWZ6
    • D7RWZ7
    • Q8WWS1
    • Q96KS6
    • Q96KS7
    • Q96KS8

    Protein attributes for GRIK2 Gene

    Size:
    908 amino acids
    Molecular mass:
    102583 Da
    Quaternary structure:
    • Homotetramer or heterotetramer of pore-forming glutamate receptor subunits. Tetramers may be formed by the dimerization of dimers (Probable). Assembles into a kainate-gated homomeric channel that does not bind AMPA. GRIK2 associated to GRIK5 forms functional channels that can be gated by AMPA (By similarity). Interacts with DLG4. Interacts with NETO2 (By similarity). Interacts (via C-terminus) with KLHL17 (via kelch repeats); the interaction targets GRIK2 for degradation via ubiquitin-proteasome pathway (By similarity).
    Miscellaneous:
    • The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds domoate > kainate > quisqualate > 6-cyano-7-nitroquinoxaline-2,3-dione > L-glutamate = 6,7-dinitroquinoxaline-2,3-dione > dihydrokainate

    Three dimensional structures from OCA and Proteopedia for GRIK2 Gene

    Alternative splice isoforms for GRIK2 Gene

neXtProt entry for GRIK2 Gene

Proteomics data for GRIK2 Gene at MOPED

Post-translational modifications for GRIK2 Gene

  • Phosphorylated by PKC at Ser-868 upon agonist activation, this directly enhance sumoylation.
  • Sumoylation mediates kainate receptor-mediated endocytosis and regulates synaptic transmission. Sumoylation is enhanced by PIAS3 and desumoylated by SENP1 (By similarity).
  • Ubiquitinated. Ubiquitination regulates the GRIK2 levels at the synapse by leading kainate receptor degradation through proteasome (By similarity).
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn67, Asn73, Asn275, Asn378, Asn412, Asn423, Asn430, and Asn546

No data available for DME Specific Peptides for GRIK2 Gene

Domains for GRIK2 Gene

Gene Families for GRIK2 Gene

HGNC:
  • GRI :Ligand-gated ion channels / Glutamate receptors, ionotropic
  • GR :Glutamate receptors
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

Q13002

UniProtKB/Swiss-Prot:

GRIK2_HUMAN
Family:
  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIK2 subfamily.:
    • Q13002
genes like me logo Genes that share domains with GRIK2: view

Function for GRIK2 Gene

Molecular function for GRIK2 Gene

GENATLAS Biochemistry: glutamate receptor 6,ionotropic,kainate (2-carboxy-4-(1-methylethenyl)-3-pyrrolidinacetic) class
UniProtKB/Swiss-Prot Function: Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. May be involved in the transmission of light information from the retina to the hypothalamus. Modulates cell surface expression of NETO2 (By similarity).

Gene Ontology (GO) - Molecular Function for GRIK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004970 ionotropic glutamate receptor activity --
GO:0005234 extracellular-glutamate-gated ion channel activity IBA --
GO:0005515 protein binding --
GO:0008066 glutamate receptor activity --
GO:0015277 kainate selective glutamate receptor activity IDA 15537878
genes like me logo Genes that share ontologies with GRIK2: view

Phenotypes for GRIK2 Gene

genes like me logo Genes that share phenotypes with GRIK2: view

Animal Models for GRIK2 Gene

MGI Knock Outs for GRIK2:

miRNA for GRIK2 Gene

miRTarBase miRNAs that target GRIK2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for GRIK2 Gene

Localization for GRIK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRIK2 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GRIK2 Gene COMPARTMENTS Subcellular localization image for GRIK2 gene
Compartment Confidence
plasma membrane 5
cytosol 1
extracellular 1

Gene Ontology (GO) - Cellular Components for GRIK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7536611
GO:0008328 ionotropic glutamate receptor complex --
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane --
genes like me logo Genes that share ontologies with GRIK2: view

Pathways for GRIK2 Gene

genes like me logo Genes that share pathways with GRIK2: view

Gene Ontology (GO) - Biological Process for GRIK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001662 behavioral fear response IEA --
GO:0006810 transport NAS 7536611
GO:0006874 cellular calcium ion homeostasis IEA --
GO:0006886 intracellular protein transport IEA --
GO:0007165 signal transduction --
genes like me logo Genes that share ontologies with GRIK2: view

Compounds for GRIK2 Gene

(5) Tocris Compounds for GRIK2 Gene

Compound Action Cas Number
ACET Potent antagonist of GluR5-containing kainate receptors [936095-50-0]
CNQX Potent AMPA/kainate antagonist [115066-14-3]
Domoic acid Potent, selective kainate agonist [14277-97-5]
Kainic acid Potent excitant and neurotoxin [487-79-6]
UBP 302 Selective, potent kainate antagonist; active enantiomer of UBP 296 (Cat. No. 2078) [745055-91-8]

(2) HMDB Compounds for GRIK2 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
L-Glutamic acid
  • (2S)-2-Aminopentanedioate
56-86-0

(21) Drugbank Compounds for GRIK2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
2s,4r-4-Methylglutamate
target
Amobarbital
57-43-2 target antagonist
Aprobarbital
77-02-1 target antagonist
Barbital
57-44-3 target antagonist
Barbituric acid derivative
target antagonist

(8) IUPHAR Ligand for GRIK2 Gene

Ligand Type Action Affinity Pubmed IDs
SYM2081 Inhibitor Inhibition 5.5
concanavalin A Allosteric regulator Positive
domoic acid Agonist Full agonist
dysiherbaine Agonist Full agonist
[3H]kainate None None
2,4-epi-neodysiherbaine Antagonist Antagonist
[3H](2S,4R)-4-methylglutamate None None
kainate Agonist Full agonist

(19) Novoseek inferred chemical compound relationships for GRIK2 Gene

Compound -log(P) Hits PubMed IDs
kainate 90.6 48
ly382884 81.4 1
glutamate 78.7 45
ly293558 74.8 2
cyclothiazide 70.3 1
genes like me logo Genes that share compounds with GRIK2: view

Transcripts for GRIK2 Gene

Unigene Clusters for GRIK2 Gene

Glutamate receptor, ionotropic, kainate 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GRIK2 Gene

No ASD Table

Relevant External Links for GRIK2 Gene

GeneLoc Exon Structure for
GRIK2
ECgene alternative splicing isoforms for
GRIK2

Expression for GRIK2 Gene

mRNA expression in normal human tissues for GRIK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GRIK2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (10.7) and Brain - Cerebellum (9.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GRIK2 Gene

SOURCE GeneReport for Unigene cluster for GRIK2 Gene Hs.98262

mRNA Expression by UniProt/SwissProt for GRIK2 Gene

Q13002-GRIK2_HUMAN
Tissue specificity: Expression is higher in cerebellum than in cerebral cortex
genes like me logo Genes that share expressions with GRIK2: view

Orthologs for GRIK2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GRIK2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GRIK2 35
  • 99.82 (n)
  • 100 (a)
GRIK2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GRIK2 35
  • 95.52 (n)
  • 99.56 (a)
GRIK2 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GRIK2 35
  • 95.04 (n)
  • 99.56 (a)
GRIK2 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Grik2 35
  • 92.18 (n)
  • 98.68 (a)
Grik2 16
Grik2 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GRIK2 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRIK2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Grik2 35
  • 92.07 (n)
  • 98.79 (a)
chicken
(Gallus gallus)
Aves GRIK2 35
  • 88.35 (n)
  • 98.85 (a)
GRIK2 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRIK2 36
  • 97 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia grik2-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia grik2 35
  • 83.98 (n)
  • 95.52 (a)
Str.12346 35
zebrafish
(Danio rerio)
Actinopterygii grik2 35
  • 77.62 (n)
  • 92.07 (a)
GRIK2 (1 of 2) 36
  • 91 (a)
OneToMany
GRIK2 (2 of 2) 36
  • 92 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000801 35
  • 53.85 (n)
  • 50.12 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3822 35
  • 54.24 (n)
  • 50.12 (a)
CG3822 36
  • 48 (a)
ManyToMany
CG5621 36
  • 33 (a)
ManyToMany
clumsy 36
  • 34 (a)
ManyToMany
GluRIIA 36
  • 30 (a)
ManyToMany
GluRIIB 36
  • 27 (a)
ManyToMany
GluRIIC 36
  • 27 (a)
ManyToMany
GluRIIE 36
  • 33 (a)
ManyToMany
KaiRIA 36
  • 34 (a)
ManyToMany
CG4226 37
  • 29 (a)
clumsy 37
  • 39 (a)
CG3822 37
  • 47 (a)
CG15627 37
  • 32 (a)
Glu-RIIA 37
  • 31 (a)
CG5621 37
  • 41 (a)
Glu-RIIB 37
  • 29 (a)
CG9935 37
  • 43 (a)
Kai-RIA 37
  • 38 (a)
CG11155 37
  • 56 (a)
worm
(Caenorhabditis elegans)
Secernentea glr-3 35
  • 48.11 (n)
  • 39.75 (a)
glr-1 37
  • 32 (a)
glr-4 37
  • 35 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons GLR2 35
  • 41.02 (n)
  • 27.69 (a)
rice
(Oryza sativa)
Liliopsida Os02g0117500 35
  • 41.24 (n)
  • 27.92 (a)
Species with no ortholog for GRIK2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GRIK2 Gene

ENSEMBL:
Gene Tree for GRIK2 (if available)
TreeFam:
Gene Tree for GRIK2 (if available)

Paralogs for GRIK2 Gene

Paralogs for GRIK2 Gene

genes like me logo Genes that share paralogs with GRIK2: view

Variants for GRIK2 Gene

Sequence variations from dbSNP and Humsavar for GRIK2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs3807 -- 101,505,679(-) TCTCG(G/T)TCCCA intron-variant
rs3808 -- 101,505,679(-) CTCGT(C/T)CCCAA intron-variant
rs68717 -- 101,592,835(+) AATGA(A/C)AACTG intron-variant
rs70718 -- 101,596,277(+) GTCAC(A/G)CAGGA intron-variant
rs471128 -- 101,599,814(+) taaaa(G/T)gcata intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GRIK2 Gene

Variant ID Type Subtype PubMed ID
esv2732488 CNV Deletion 23290073
esv2732489 CNV Deletion 23290073
esv2732490 CNV Deletion 23290073
dgv6957n71 CNV Loss 21882294
dgv6958n71 CNV Loss 21882294
nsv886462 CNV Gain+Loss 21882294
nsv886464 CNV Loss 21882294
nsv5413 CNV Loss 18451855
dgv125n17 CNV Loss 16327808
dgv54n50 CNV Loss 21212237
nsv7945 CNV Loss 18304495
esv6416 CNV Loss 19470904
nsv823794 CNV Loss 20364138
esv2732491 CNV Deletion 23290073
esv25324 CNV Loss 19812545
esv2659394 CNV Deletion 23128226
esv32923 CNV Loss 17666407
nsv514381 CNV Complex 21397061
esv274923 CNV Gain+Loss 21479260
nsv507354 CNV Insertion 20534489
esv2659082 CNV Deletion 23128226
nsv521403 CNV Loss 19592680
nsv527973 CNV Loss 19592680
esv275391 CNV Loss 21479260
esv273995 CNV Insertion 20981092
esv270159 CNV Insertion 20981092
esv2732492 CNV Deletion 23290073
esv2732493 CNV Deletion 23290073
esv2732494 CNV Deletion 23290073
esv271520 CNV Insertion 20981092
esv272706 CNV Insertion 20981092
esv274939 CNV Loss 21479260
esv1008778 CNV Insertion 20482838
esv2614377 CNV Insertion 19546169
nsv512889 CNV Insertion 21212237
esv1244606 CNV Insertion 17803354
nsv830743 CNV Loss 17160897
nsv463994 CNV Loss 19166990
esv2659234 CNV Deletion 23128226
esv24093 CNV Loss 19812545
esv2676093 CNV Deletion 23128226
dgv6959n71 CNV Loss 21882294
esv2462735 CNV Deletion 19546169
nsv470850 CNV Loss 18288195
nsv830744 CNV Gain 17160897
esv22421 CNV Loss 19812545
esv2663975 CNV Deletion 23128226
esv268192 CNV Insertion 20981092
esv1371045 CNV Insertion 17803354

Relevant External Links for GRIK2 Gene

HapMap Linkage Disequilibrium report
GRIK2
Human Gene Mutation Database (HGMD)
GRIK2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRIK2 Gene

Disorders for GRIK2 Gene

(1) OMIM Diseases for GRIK2 Gene (138244)

UniProtKB/Swiss-Prot

GRIK2_HUMAN
  • Mental retardation, autosomal recessive 6 (MRT6) [MIM:611092]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. In contrast to syndromic or specific mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic mental retardation. MRT6 patients display mild to severe mental retardation and psychomotor development delay in early childhood. Patients do not have neurologic problems, congenital malformations, or facial dysmorphism. Body height, weight, and head circumference are normal. {ECO:0000269 PubMed:17847003}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for GRIK2 Gene

(6) Novoseek inferred disease relationships for GRIK2 Gene

Disease -log(P) Hits PubMed IDs
teratocarcinoma 52 1
schizophrenia 31.5 7
huntington disease 27.5 2
epilepsy temporal lobe 19.2 2
pathological processes 13.4 1

Relevant External Links for GRIK2

Genetic Association Database (GAD)
GRIK2
Human Genome Epidemiology (HuGE) Navigator
GRIK2
genes like me logo Genes that share disorders with GRIK2: view

Publications for GRIK2 Gene

  1. Refinement of map position of the human GluR6 kainate receptor gene (GRIK2) and lack of association and linkage with idiopathic generalized epilepsies. (PMID: 7675232) Sander T. … Sailer U. (Neurology 1995) 3 23 48
  2. RNA editing of human kainate receptor subunits. (PMID: 7696618) Nutt S.L. … Kamboj R.K. (NeuroReport 1994) 3 4 23
  3. Functional expression and pharmacological characterization of the human EAA4 (GluR6) glutamate receptor: a kainate selective channel subunit. (PMID: 7536611) Hoo K.H. … Kamboj R.K. (Recept. Channels 1994) 3 4 23
  4. Genomic organization of the human GRIK2 gene and characterization of multiple splicing variants. (PMID: 11675011) Barbon A. … Barlati S. (Gene 2001) 3 4 23
  5. Linkage and association of the glutamate receptor 6 gene with autism. (PMID: 11920157) Jamain S. … Bourgeron T. (Mol. Psychiatry 2002) 3 23 48

Products for GRIK2 Gene

Sources for GRIK2 Gene

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