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Aliases for GRIK2 Gene

Aliases for GRIK2 Gene

  • Glutamate Ionotropic Receptor Kainate Type Subunit 2 2 3 5
  • Excitatory Amino Acid Receptor 4 3 4
  • Glutamate Receptor 6 3 4
  • GluR-6 3 4
  • GLUR6 3 4
  • GluK2 3 4
  • EAA4 3 4
  • Glutamate Receptor, Ionotropic, Kainate 2 2
  • 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
  • MRT6 3

External Ids for GRIK2 Gene

Previous HGNC Symbols for GRIK2 Gene

  • GLUR6

Previous GeneCards Identifiers for GRIK2 Gene

  • GC06P101715
  • GC06P101863
  • GC06P101892
  • GC06P101953
  • GC06P099289
  • GC06P101846

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 Ionotropic Receptor Kainate Type Subunit 2) is a Protein Coding gene. Diseases associated with GRIK2 include Autosomal Recessive Non-Syndromic Intellectual Disability and Spinocerebellar Ataxia 11. Among its related pathways are Presynaptic function of Kainate receptors and Transmission across Chemical Synapses. GO annotations related to this gene include protein homodimerization activity and ubiquitin protein ligase binding. An important paralog of this gene is GRIK3.

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. They contribute to excitatory postsynaptic currents in many regions of the CNS.

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

Regulatory Elements for GRIK2 Gene

Enhancers for GRIK2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F101295 0.9 VISTA 11.1 -97.2 -97205 1.7 SMARCA4 POLR2A GRIK2 PIR53412
GH06F100877 1 ENCODE 10.9 -513.7 -513681 4.5 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ASCC3 GRIK2 GC06M100662
GH06F101083 0.2 ENCODE 7.9 -310.0 -310035 1.3 JUN INSM2 HIC1 SCRT2 FOS SP3 ZNF362 CEBPB EP300 OSR2 GRIK2 GC06P101131 LOC728098
GH06F100662 0.8 Ensembl ENCODE 5.8 -730.1 -730130 1.5 CTCF TRIM22 RAD21 ZNF316 JUND ZNF143 SMC3 FOXP2 IRF1 MAFK ASCC3 GRIK2 GC06M100662 GC06P100560
GH06F101417 0.3 FANTOM5 1.5 +24.4 24362 0.1 GRIK2 PIR46414
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GRIK2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GRIK2 Gene

Chromosome:
6
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

Genes around GRIK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRIK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRIK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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).
  • Glycosylation at Asn 67, Asn 73, Asn 275, Asn 378, Asn 412, Asn 423, Asn 430, and Asn 546
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for GRIK2
  • Cloud-Clone Corp. Antibodies for GRIK2

No data available for DME Specific Peptides for GRIK2 Gene

Domains & Families for GRIK2 Gene

Gene Families for GRIK2 Gene

Graphical View of Domain Structure for InterPro Entry

Q13002

UniProtKB/Swiss-Prot:

GRIK2_HUMAN :
  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIK2 subfamily.
Family:
  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIK2 subfamily.
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:0004872 receptor activity IEA --
GO:0004970 ionotropic glutamate receptor activity IEA --
GO:0005216 ion channel activity IEA --
GO:0005234 extracellular-glutamate-gated ion channel activity IEA --
GO:0008066 glutamate receptor activity IEA --
genes like me logo Genes that share ontologies with GRIK2: view
genes like me logo Genes that share phenotypes with GRIK2: view

Human Phenotype Ontology for GRIK2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GRIK2 Gene

MGI Knock Outs for GRIK2:

Animal Model Products

miRNA for GRIK2 Gene

miRTarBase miRNAs that target GRIK2

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
cytoskeleton 2
cytosol 2
endoplasmic reticulum 2
extracellular 2
mitochondrion 2
nucleus 2
endosome 1

Gene Ontology (GO) - Cellular Components for GRIK2 Gene

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

Pathways & Interactions 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 IEA,NAS 7536611
GO:0006811 ion transport IEA --
GO:0006874 cellular calcium ion homeostasis IEA --
GO:0006886 intracellular protein transport IEA --
genes like me logo Genes that share ontologies with GRIK2: view

No data available for SIGNOR curated interactions for GRIK2 Gene

Drugs & Compounds for GRIK2 Gene

(56) Drugs for GRIK2 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Butabarbital Approved, Illicit Pharma antagonist, Target 0
Butalbital Approved, Illicit Pharma antagonist, Target 0
Butethal Approved, Illicit Pharma antagonist, Target 0
Methylphenobarbital Approved Pharma antagonist, Target 0
Pentobarbital Approved, Vet_approved Pharma antagonist, Target 10

(5) Additional Compounds for GRIK2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3'-Hydroxyhexobarbital
427-29-2

(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
Topiramate GluR5 antagonist; inhibits carbonic anhydrase (CA) II and IV 97240-79-4

(14) ApexBio Compounds for GRIK2 Gene

Compound Action Cas Number
(S)-(-)-5-Iodowillardiine 140187-25-3
ACET 936095-50-0
ATPA 140158-50-5
Domoic acid 14277-97-5
Evans Blue tetrasodium salt potent inhibitor of AMPA and kainate receptor-mediated currents (GluRl and GIuR6) 314-13-6
Kainic acid kainate receptor agonist, selective 487-79-6
NS 3763 70553-45-6
PDZ1 Domain inhibitor peptide 1315378-73-4
SYM 2081 31137-74-3
Topiramate GluR5 receptor antagonist,anticonvulsant 97240-79-4
UBP 296 745055-86-1
UBP 301 569371-10-4
UBP 302 745055-91-8
UBP 310 902464-46-4
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:

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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 (x10.7) and Brain - Cerebellum (x9.9).

Protein differential expression in normal tissues from HIPED for GRIK2 Gene

This gene is overexpressed in Plasma (60.3) and Frontal cortex (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GRIK2 Gene



Protein tissue co-expression partners for GRIK2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GRIK2 Gene:

GRIK2

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 expression patterns with GRIK2: view

Primer Products

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 34 35
  • 99.82 (n)
oppossum
(Monodelphis domestica)
Mammalia GRIK2 35
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRIK2 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GRIK2 34 35
  • 95.52 (n)
dog
(Canis familiaris)
Mammalia GRIK2 34 35
  • 95.04 (n)
mouse
(Mus musculus)
Mammalia Grik2 34 16 35
  • 92.18 (n)
rat
(Rattus norvegicus)
Mammalia Grik2 34
  • 92.07 (n)
chicken
(Gallus gallus)
Aves GRIK2 34 35
  • 88.35 (n)
lizard
(Anolis carolinensis)
Reptilia GRIK2 35
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grik2 34
  • 83.98 (n)
Str.12346 34
African clawed frog
(Xenopus laevis)
Amphibia grik2-A 34
zebrafish
(Danio rerio)
Actinopterygii GRIK2 (2 of 2) 35
  • 92 (a)
OneToMany
GRIK2 (1 of 2) 35
  • 91 (a)
OneToMany
grik2 34
  • 77.62 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11155 36
  • 56 (a)
CG3822 36 34 35
  • 54.24 (n)
CG9935 36
  • 43 (a)
CG5621 36 35
  • 41 (a)
clumsy 36 35
  • 39 (a)
Kai-RIA 36
  • 38 (a)
KaiRIA 35
  • 34 (a)
ManyToMany
GluRIIE 35
  • 33 (a)
ManyToMany
CG15627 36
  • 32 (a)
Glu-RIIA 36
  • 31 (a)
GluRIIA 35
  • 30 (a)
ManyToMany
CG4226 36
  • 29 (a)
Glu-RIIB 36
  • 29 (a)
GluRIIB 35
  • 27 (a)
ManyToMany
GluRIIC 35
  • 27 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000801 34
  • 53.85 (n)
worm
(Caenorhabditis elegans)
Secernentea glr-3 34
  • 48.11 (n)
glr-4 36
  • 35 (a)
glr-1 36
  • 32 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons GLR2 34
  • 41.02 (n)
rice
(Oryza sativa)
Liliopsida Os02g0117500 34
  • 41.24 (n)
Species where no ortholog for GRIK2 was found in the sources mined by GeneCards:
  • 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
VAR_035694 A breast cancer sample
rs749995448 Pathogenic 101,676,673(+) ATCTT(A/C/T)GACTC reference, synonymous-codon, stop-gained
rs2227281 Likely benign 102,055,321(+) CTCTC(C/T)TTTCT intron-variant
rs2227283 Likely benign 102,055,442(+) GAGGA(A/G)AGCAA reference, synonymous-codon
rs2243355 Likely benign 101,928,642(+) GTTCT(A/G)CTGGT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv10866n54 CNV loss 21841781
dgv10867n54 CNV loss 21841781
dgv10868n54 CNV loss 21841781
dgv10869n54 CNV loss 21841781
dgv10870n54 CNV loss 21841781
dgv10871n54 CNV loss 21841781
dgv10872n54 CNV loss 21841781
dgv10873n54 CNV loss 21841781
dgv1206e214 CNV loss 21293372
dgv125n17 CNV loss 16327808
dgv1820e212 CNV loss 25503493
dgv1821e212 CNV loss 25503493
dgv398e215 CNV deletion 23714750
dgv54n50 CNV loss 21212237
esv1008778 CNV insertion 20482838
esv1244606 CNV insertion 17803354
esv1371045 CNV insertion 17803354
esv22421 CNV loss 19812545
esv24093 CNV loss 19812545
esv2462735 CNV deletion 19546169
esv25324 CNV loss 19812545
esv2614377 CNV insertion 19546169
esv2659082 CNV deletion 23128226
esv2659234 CNV deletion 23128226
esv2659394 CNV deletion 23128226
esv2663975 CNV deletion 23128226
esv2676093 CNV deletion 23128226
esv2732488 CNV deletion 23290073
esv2732489 CNV deletion 23290073
esv2732490 CNV deletion 23290073
esv2732491 CNV deletion 23290073
esv2732492 CNV deletion 23290073
esv2732493 CNV deletion 23290073
esv2732494 CNV deletion 23290073
esv274923 CNV gain+loss 21479260
esv274939 CNV loss 21479260
esv275391 CNV loss 21479260
esv32923 CNV loss 17666407
esv3303913 CNV mobile element insertion 20981092
esv3308433 CNV mobile element insertion 20981092
esv3333522 CNV insertion 20981092
esv3366782 CNV insertion 20981092
esv3390861 CNV insertion 20981092
esv3438466 CNV insertion 20981092
esv3571322 CNV loss 25503493
esv3571324 CNV loss 25503493
esv3571326 CNV loss 25503493
esv3571330 CNV loss 25503493
esv3571332 CNV loss 25503493
esv3571333 CNV loss 25503493
esv3576206 CNV gain 25503493
esv3576207 CNV gain 25503493
esv3610164 CNV loss 21293372
esv3610165 CNV loss 21293372
esv3610166 CNV loss 21293372
esv3610168 CNV loss 21293372
esv3610170 CNV loss 21293372
esv3610172 CNV loss 21293372
esv3610174 CNV gain 21293372
esv3610176 CNV gain 21293372
esv3610177 CNV loss 21293372
esv3890917 CNV loss 25118596
esv3890918 CNV loss 25118596
esv6416 CNV loss 19470904
nsv1016167 CNV loss 25217958
nsv1022069 CNV gain 25217958
nsv1033919 CNV loss 25217958
nsv1109807 CNV deletion 24896259
nsv1114858 CNV deletion 24896259
nsv1137131 CNV deletion 24896259
nsv1146867 CNV deletion 26484159
nsv463994 CNV loss 19166990
nsv470850 CNV loss 18288195
nsv473328 CNV novel sequence insertion 20440878
nsv507354 OTHER sequence alteration 20534489
nsv512889 CNV insertion 21212237
nsv514381 CNV gain+loss 21397061
nsv521403 CNV loss 19592680
nsv527973 CNV loss 19592680
nsv5413 CNV deletion 18451855
nsv604277 CNV loss 21841781
nsv604279 CNV loss 21841781
nsv604317 CNV gain 21841781
nsv7945 CNV loss 18304495
nsv823794 CNV loss 20364138
nsv830743 CNV loss 17160897
nsv830744 CNV gain 17160897
nsv950484 CNV duplication 24416366
nsv966673 CNV deletion 23825009

Variation tolerance for GRIK2 Gene

Residual Variation Intolerance Score: 5.81% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.48; 43.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GRIK2 Gene

Human Gene Mutation Database (HGMD)
GRIK2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRIK2

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

Disorders for GRIK2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GRIK2 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
spinocerebellar ataxia 11
  • spinocerebellar ataxia type 11
autism spectrum disorder
  • pervasive development disorder
schizophrenia
  • schizophrenia 12
- elite association - COSMIC cancer census association via MalaCards
Search GRIK2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for GRIK2

Genetic Association Database (GAD)
GRIK2
Human Genome Epidemiology (HuGE) Navigator
GRIK2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GRIK2
genes like me logo Genes that share disorders with GRIK2: view

No data available for Genatlas for GRIK2 Gene

Publications for GRIK2 Gene

  1. Glutamate receptor 6 gene (GluR6 or GRIK2) polymorphisms in the Indian population: a genetic association study on autism spectrum disorder. (PMID: 17712621) Dutta S. … Usha R. (Cell. Mol. Neurobiol. 2007) 3 22 46 64
  2. A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. (PMID: 17847003) Motazacker M.M. … Kuss A.W. (Am. J. Hum. Genet. 2007) 3 4 22 64
  3. Frequency and transmission of glutamate receptors GRIK2 and GRIK3 polymorphisms in patients with obsessive compulsive disorder. (PMID: 15094479) Delorme R. … Leboyer M. (Neuroreport 2004) 3 22 46 64
  4. Linkage and association of the glutamate receptor 6 gene with autism. (PMID: 11920157) Jamain S. … Bourgeron T. (Mol. Psychiatry 2002) 3 22 46 64
  5. Association study of polymorphisms in the GluR6 kainate receptor gene (GRIK2) with schizophrenia. (PMID: 12467946) Shibata H. … Fukumaki Y. (Psychiatry Res 2002) 3 22 46 64

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