mutLBSgeneDB |
Gene summary for GRIK2 |
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Basic gene Info. | Gene symbol | GRIK2 |
Gene name | glutamate receptor, ionotropic, kainate 2 | |
Synonyms | EAA4|GLR6|GLUK6|GLUR6|GluK2|MRT6 | |
Cytomap | UCSC genome browser: 6q16.3 | |
Type of gene | protein-coding | |
RefGenes | NM_001166247.1, NM_021956.4,NM_175768.3, | |
Description | bA487F5.1excitatory amino acid receptor 4gluR-6glutamate receptor 6glutamate receptor form Aglutamate receptor form Bglutamate receptor form Cglutamate receptor form Dglutamate receptor form Eglutamate receptor ionotropic, kainate 2 | |
Modification date | 20141207 | |
dbXrefs | MIM : 138244 | |
HGNC : HGNC | ||
Ensembl : ENSG00000164418 | ||
HPRD : 00692 | ||
Vega : OTTHUMG00000016328 | ||
Protein | UniProt: Q13002 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_GRIK2 | |
BioGPS: 2898 | ||
Pathway | NCI Pathway Interaction Database: GRIK2 | |
KEGG: GRIK2 | ||
REACTOME: GRIK2 | ||
Pathway Commons: GRIK2 | ||
Context | iHOP: GRIK2 | |
ligand binding site mutation search in PubMed: GRIK2 | ||
UCL Cancer Institute: GRIK2 | ||
Assigned class in mutLBSgeneDB | A: This gene has a literature evidence and it belongs to targetable_mutLBSgenes. | |
References showing study about ligand binding site mutation for GRIK2. | 1. "Motazacker MM, Rost BR, Hucho T, Garshasbi M, Kahrizi K, Ullmann R, Abedini SS, Nieh SE, Amini SH, Goswami C, Tzschach A, Jensen LR, Schmitz D, Ropers HH, Najmabadi H, Kuss AW. A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am J Hum Genet. 2007 Oct;81(4):792-8. Epub 2007 Aug 31. PubMed PMID: 17847003; PubMedCentral PMCID: PMC2227928. " 17847003 |
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GO ID | GO Term | PubMed ID | GO:0050804 | regulation of synaptic transmission | 15537878 |
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Ligand binding site mutations for GRIK2 |
![]() We represented ligand binding site mutations only. (You can see big image via clicking.) ![]() |
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LBS | AAchange of nsSNV | Cancer type | # samples | T741 | E743K | COAD | 1 | N721 | E723K | COAD | 1 | R523 | K525E | KIRC | 1 | T741 | E743Q | LUAD | 1 | V685 | E686D | LUAD | 1 | A518 | A518V | LUSC | 1 | N721 | E723K | OV | 1 | P516 | P516L | SKCM | 1 | P516 | V514F | STAD | 1 |
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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Protein structure related information for GRIK2 |
![]() Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
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![]() Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | T741 | E743K | -1.503166 | T741 | E743Q | -1.4842988 | R523 | K525E | -1.1488568 | N721 | E723K | -0.90265402 | P516 | V514F | -0.75616987 | A518 | A518V | -0.52728418 | V685 | E686D | -0.48008125 | P516 | P516L | -0.43866757 |
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
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Differential gene expression and gene-gene network for GRIK2 |
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Phenotype information for GRIK2 |
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Disease ID | Disease name | # PubMed | Association type |
umls:C0004352 | Autistic Disorder | 10 | Biomarker, GeneticVariation |
umls:C0036341 | Schizophrenia | 6 | Biomarker |
umls:C0005586 | Bipolar Disorder | 2 | Biomarker, GeneticVariation |
umls:C0033953 | Sexual Dysfunctions, Psychological | 1 | Biomarker |
umls:C0236969 | Substance-Related Disorders | 1 | Biomarker |
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Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for GRIK2 |
![]() Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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Drug status | DrugBank ID | Name | Type | Drug structure |
Nutraceutical | DB00142 | L-Glutamic Acid | Small molecule | ![]() |
Approved|illicit | DB00237 | Butabarbital | Small molecule | ![]() |
Approved|illicit | DB00241 | Butalbital | Small molecule | ![]() |
Approved|illicit | DB00306 | Talbutal | Small molecule | ![]() |
Approved|vet_approved | DB00312 | Pentobarbital | Small molecule | ![]() |
Approved|vet_approved | DB00418 | Secobarbital | Small molecule | ![]() |
Withdrawn | DB00463 | Metharbital | Small molecule | ![]() |
Approved|vet_approved | DB00599 | Thiopental | Small molecule | ![]() |
Approved|vet_approved | DB00794 | Primidone | Small molecule | ![]() |
Approved | DB00849 | Methylphenobarbital | Small molecule | ![]() |
Approved | DB01174 | Phenobarbital | Small molecule | ![]() |
Approved|illicit | DB01351 | Amobarbital | Small molecule | ![]() |
Approved|illicit | DB01352 | Aprobarbital | Small molecule | ![]() |
Approved|illicit | DB01353 | Butethal | Small molecule | ![]() |
Approved | DB01354 | Heptabarbital | Small molecule | ![]() |
Approved | DB01355 | Hexobarbital | Small molecule | ![]() |
Illicit | DB01483 | Barbital | Small molecule | ![]() |
Experimental|illicit | DB01496 | Barbituric acid derivative | Small molecule | ![]() |
Experimental | DB02852 | Domoic Acid | Small molecule | ![]() |
Experimental | DB02999 | Quisqualate | Small molecule | ![]() |
Experimental | DB03425 | 2s,4r-4-Methylglutamate | Small molecule | ![]() |
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Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of GRIK2 |
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LBS | AA sequence | # species | Species | A518 | AVAPLAITYVR | 2 | Homo sapiens, Rattus norvegicus | A518 | VVGDIAIVTKR | 2 | Arabidopsis thaliana, Arabidopsis thaliana | A518 | VVGDVAIVTNR | 1 | Arabidopsis thaliana | A518 | GVGDITIITER | 1 | Arabidopsis thaliana | A689 | AVEDGATMTFF | 2 | Homo sapiens, Rattus norvegicus | A689 | --QVGSYAENY | 1 | Arabidopsis thaliana | A689 | --QVGSFAENY | 1 | Arabidopsis thaliana | A689 | --QVGSFAESY | 1 | Arabidopsis thaliana | A689 | --PQGSFVRDY | 1 | Arabidopsis thaliana | E440 | VTTILEEP--Y | 2 | Homo sapiens, Rattus norvegicus | E440 | PGGTSETPRGW | 1 | Arabidopsis thaliana | E440 | PGGTSVTPRGW | 1 | Arabidopsis thaliana | E440 | PGETFTKPRGW | 1 | Arabidopsis thaliana | E440 | PGHSIKIPRGW | 1 | Arabidopsis thaliana | E738 | YAFLMESTTIE | 2 | Homo sapiens, Rattus norvegicus | E738 | -AIVDERPYVD | 1 | Arabidopsis thaliana | E738 | -AIVDERPYID | 1 | Arabidopsis thaliana | E738 | -AIVDERPYVE | 1 | Arabidopsis thaliana | E738 | -AVVDERAYIE | 1 | Arabidopsis thaliana | G688 | GAVEDGATMTF | 2 | Homo sapiens, Rattus norvegicus | G688 | ---QVGSYAEN | 1 | Arabidopsis thaliana | G688 | ---QVGSFAEN | 1 | Arabidopsis thaliana | G688 | ---QVGSFAES | 1 | Arabidopsis thaliana | G688 | ---PQGSFVRD | 1 | Arabidopsis thaliana | L517 | LAVAPLAITYV | 2 | Homo sapiens, Rattus norvegicus | L517 | AVVGDIAIVTK | 2 | Arabidopsis thaliana, Arabidopsis thaliana | L517 | GVVGDVAIVTN | 1 | Arabidopsis thaliana | L517 | AGVGDITIITE | 1 | Arabidopsis thaliana | M737 | DYAFLMESTTI | 2 | Homo sapiens, Rattus norvegicus | M737 | --AIVDERPYV | 2 | Arabidopsis thaliana, Arabidopsis thaliana | M737 | --AIVDERPYI | 1 | Arabidopsis thaliana | M737 | --AVVDERAYI | 1 | Arabidopsis thaliana | N721 | VLVKSNEEGIQ | 2 | Homo sapiens, Rattus norvegicus | N721 | AAALQNGT--- | 1 | Arabidopsis thaliana | N721 | ANALQNGT--- | 1 | Arabidopsis thaliana | N721 | AKALKDGPSKG | 1 | Arabidopsis thaliana | N721 | DKALRDGPGKG | 1 | Arabidopsis thaliana | P516 | DLAVAPLAITY | 2 | Homo sapiens, Rattus norvegicus | P516 | DAVVGDIAIVT | 2 | Arabidopsis thaliana, Arabidopsis thaliana | P516 | DGVVGDVAIVT | 1 | Arabidopsis thaliana | P516 | DAGVGDITIIT | 1 | Arabidopsis thaliana | R523 | AITYVREKVID | 2 | Homo sapiens, Rattus norvegicus | R523 | AIVTKRTRIVD | 2 | Arabidopsis thaliana, Arabidopsis thaliana | R523 | AIVTNRTKIVD | 1 | Arabidopsis thaliana | R523 | TIITERTKMAD | 1 | Arabidopsis thaliana | T690 | VEDGATMTFFK | 2 | Homo sapiens, Rattus norvegicus | T690 | -QVGSYAENYM | 1 | Arabidopsis thaliana | T690 | -QVGSFAENYM | 1 | Arabidopsis thaliana | T690 | -QVGSFAESYL | 1 | Arabidopsis thaliana | T690 | -PQGSFVRDYL | 1 | Arabidopsis thaliana | T741 | LMESTTIEFVT | 2 | Homo sapiens, Rattus norvegicus | T741 | VDERPYVDLFL | 1 | Arabidopsis thaliana | T741 | VDERPYIDLFL | 1 | Arabidopsis thaliana | T741 | VDERPYVELFL | 1 | Arabidopsis thaliana | T741 | VDERAYIELFL | 1 | Arabidopsis thaliana | V685 | IEYGAVEDGAT | 2 | Homo sapiens, Rattus norvegicus | V685 | VGF---QVGSY | 1 | Arabidopsis thaliana | V685 | IGF---QVGSF | 1 | Arabidopsis thaliana | V685 | IGY---QVGSF | 1 | Arabidopsis thaliana | V685 | IGY---PQGSF | 1 | Arabidopsis thaliana | Y488 | VEDGKYGAQDD | 2 | Homo sapiens, Rattus norvegicus | Y488 | V---LFGDGLK | 1 | Arabidopsis thaliana | Y488 | I---FFGDGLT | 1 | Arabidopsis thaliana | Y488 | I---PYGNGKE | 1 | Arabidopsis thaliana | Y488 | V---AFGNGHD | 1 | Arabidopsis thaliana |
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