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mutLBSgeneDB |
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| Gene summary for GRIK2 |
 Gene summary |
| 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 | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0050804 | regulation of synaptic transmission | 15537878 |
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| Ligand binding site mutations for GRIK2 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| 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 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation 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) |
| Structure image for GRIK2 from PDB |
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| Differential gene expression and gene-gene network for GRIK2 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for GRIK2 |
| Gene level disease information (DisGeNet) |
| 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 |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for GRIK2 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| 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 |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of GRIK2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of GRIK2 |
| Multiple alignments for Q13002 in multiple species |
| 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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