|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for GRIA2 |
 Gene summary |
| Basic gene Info. | Gene symbol | GRIA2 |
| Gene name | glutamate receptor, ionotropic, AMPA 2 | |
| Synonyms | GLUR2|GLURB|GluA2|GluR-K2|HBGR2 | |
| Cytomap | UCSC genome browser: 4q32.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000826.3, NM_001083619.1,NM_001083620.1, | |
| Description | AMPA-selective glutamate receptor 2gluR-2gluR-Bglutamate receptor 2 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 138247 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000120251 | ||
| HPRD : 04726 | ||
| Vega : OTTHUMG00000133836 | ||
| Protein | UniProt: P42262 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GRIA2 | |
| BioGPS: 2891 | ||
| Pathway | NCI Pathway Interaction Database: GRIA2 | |
| KEGG: GRIA2 | ||
| REACTOME: GRIA2 | ||
| Pathway Commons: GRIA2 | ||
| Context | iHOP: GRIA2 | |
| ligand binding site mutation search in PubMed: GRIA2 | ||
| UCL Cancer Institute: GRIA2 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0035235 | ionotropic glutamate receptor signaling pathway | 20614889 |
| Top |
| Ligand binding site mutations for GRIA2 |
| 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. |
 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | T707 | T707A | COAD | 1 | S518 | G520W | LUAD | 1 | E423 | S424C | LUAD | 1 | T707 | E709K | SKCM | 1 | G752 | G754D | UCEC | 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. |
| Top |
| Protein structure related information for GRIA2 |
| 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 |
 |
| 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 | T707 | E709K | -1.1357087 | E423 | S424C | -0.99772326 | T707 | T707A | -0.99090083 | G752 | G754D | -0.53543977 | S518 | G520W | -0.46271783 |
| (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 GRIA2 from PDB |
| Top |
| Differential gene expression and gene-gene network for GRIA2 |
| 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) |
| Top |
| Top |
| Phenotype information for GRIA2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0038220 | Status Epilepticus | 2 | Biomarker |
| umls:C0236736 | Cocaine-Related Disorders | 1 | Biomarker |
| umls:C0424295 | Hyperkinesis | 1 | Biomarker |
| umls:C0038587 | Substance Withdrawal Syndrome | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| Pharmacological information for GRIA2 |
| 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. |
 |
| Gene-centered drug-gene interaction network |
 |
| 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 | DB00898 | Ethanol | Small molecule |  |
| Approved | DB01174 | Phenobarbital | Small molecule |  |
| Approved | DB01346 | Quinidine barbiturate | 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 | DB01664 | (S)-Des-Me-Ampa | Small molecule |  |
| Experimental | DB02057 | (S)-AMPA | Small molecule |  |
| Experimental | DB02347 | 2-Amino-3-(5-Tert-Butyl-3-(Phosphonomethoxy)-4-Isoxazolyl)Propionic Acid | Small molecule |  |
| Experimental | DB02818 | Iodo-Willardiine | Small molecule |  |
| Experimental | DB02966 | Fluoro-Willardiine | Small molecule |  |
| Experimental | DB02999 | Quisqualate | Small molecule |  |
| Experimental | DB03240 | (S)-2-Amino-3-(1,3,5,7-Pentahydro-2,4-Dioxo-Cyclopenta[E]Pyrimidin-1-Yl) Proionic Acid | Small molecule |  |
| Experimental | DB03319 | (S)-ATPA | Small molecule |  |
| Experimental | DB03759 | FG-9041 | Small molecule |  |
| Experimental | DB04000 | Bromo-Willardiine | Small molecule |  |
| Experimental | DB04129 | Willardiine | Small molecule |  |
| Experimental | DB04152 | 2-Amino-3-(3-Hydroxy-7,8-Dihydro-6h-Cyclohepta[D]-4-Isoxazolyl)Propionic Acid | Small molecule |  |
| Experimental | DB04599 | Aniracetam | Small molecule |  |
| Experimental | DB04798 | THIO-ATPA | Small molecule |  |
| Investigational | DB04982 | Talampanel | Small molecule |  |
| Illicit|investigational | DB05047 | CX717 | Small molecule |  |
| Experimental | DB07455 | N,N'-[biphenyl-4,4'-diyldi(2R)propane-2,1-diyl]dimethanesulfonamide | Small molecule |  |
| Experimental | DB07598 | 2,3,6A,7,8,9-HEXAHYDRO-11H-[1,4]DIOXINO[2,3-G]PYRROLO[2,1-B][1,3]BENZOXAZIN-11-ONE | Small molecule |  |
| Experimental | DB08303 | (3S)-3-cyclopentyl-6-methyl-7-[(4-methylpiperazin-1-yl)sulfonyl]-3,4-dihydro-2H-1,2,4-benzothiadiazine 1,1-dioxide | Small molecule |  |
| Experimental | DB08304 | (3R)-3-cyclopentyl-7-[(4-methylpiperazin-1-yl)sulfonyl]-3,4-dihydro-2H-1,2-benzothiazine 1,1-dioxide | Small molecule |  |
| Experimental | DB08305 | (3R)-3-cyclopentyl-6-methyl-7-[(4-methylpiperazin-1-yl)sulfonyl]-3,4-dihydro-2H-1,2-benzothiazine 1,1-dioxide | Small molecule |  |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of GRIA2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
| Top |
| Conservation information for LBS of GRIA2 |
| Multiple alignments for P42262 in multiple species |
| LBS | AA sequence | # species | Species | E423 | VTTILESPYVM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G752 | NLDSKGYGIAT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I502 | IAPLTITLVRE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K514 | VIDFSKPFMSL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K751 | GNLDSKGYGIA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L500 | IAIAPLTITLV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L772 | VNLAVLKLNEQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M517 | FSKPFMSLGIS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N775 | AVLKLNEQGLL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P499 | DIAIAPLTITL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P515 | IDFSKPFMSLG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R506 | TITLVREEVID | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S518 | SKPFMSLGISI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S750 | GGNLDSKGYGI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T501 | AIAPLTITLVR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T707 | VFVRTTAEGVA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V771 | AVNLAVLKLNE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y426 | ILESPYVMMKK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y471 | VGDGKYGARDA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |