mutLBSgeneDB |
Gene summary for GRM5 |
Gene summary |
Basic gene Info. | Gene symbol | GRM5 |
Gene name | glutamate receptor, metabotropic 5 | |
Synonyms | GPRC1E|MGLUR5|PPP1R86|mGlu5 | |
Cytomap | UCSC genome browser: 11q14.3 | |
Type of gene | protein-coding | |
RefGenes | NM_000842.4, NM_001143831.2, | |
Description | metabotropic glutamate receptor 5protein phosphatase 1, regulatory subunit 86 | |
Modification date | 20141207 | |
dbXrefs | MIM : 604102 | |
HGNC : HGNC | ||
Ensembl : ENSG00000168959 | ||
Protein | UniProt: P41594 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_GRM5 | |
BioGPS: 2915 | ||
Pathway | NCI Pathway Interaction Database: GRM5 | |
KEGG: GRM5 | ||
REACTOME: GRM5 | ||
Pathway Commons: GRM5 | ||
Context | iHOP: GRM5 | |
ligand binding site mutation search in PubMed: GRM5 | ||
UCL Cancer Institute: GRM5 | ||
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 |
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Ligand binding site mutations for GRM5 |
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 | M802 | I800T | COAD | 1 | S654 | L653V | HNSC | 1 | D305 | S304R | HNSC | 1 | G624 | A623S | KIRC | 1 | D82 | D82G | LUAD | 1 | G628 | L627Q | LUAD | 1 | A174 | A174T | LUAD | 1 | W100 | S98Y | LUAD | 1 | G628 | G628C | LUAD | 1 | L744 | L744V | LUAD | 1 | M189 | M189I | LUSC | 1 | S805 | S805L | SKCM | 1 | G460 | G460R | SKCM | 1 | I79 | E77K | SKCM | 1 | A813 | A813T | STAD | 1 | S151 | S151P | STAD | 1 | W100 | S102L | STAD | 1 | N459 | D457N | STAD | 1 | M189 | V191A | UCEC | 1 | S805 | F804L | UCEC | 1 | L86 | N88S | UCEC | 1 | T175 | S176R | 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. |
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Protein structure related information for GRM5 |
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 | S805 | S805L | 0.15987359 | W100 | S102L | 0.047232609 | T175 | S176R | 0.016099572 | M802 | I800T | -1.3594058 | M189 | V191A | -1.3209327 | D305 | S304R | -1.2666158 | S654 | L653V | -1.1231969 | I79 | E77K | -1.1112755 | M189 | M189I | -0.99456777 | L744 | L744V | -0.9794319 | G628 | L627Q | -0.86659562 | S805 | F804L | -0.83406065 | D82 | D82G | -0.79984183 | L86 | N88S | -0.77610512 | S151 | S151P | -0.69841562 | A813 | A813T | -0.64867617 | W100 | S98Y | -0.61697965 | N459 | D457N | -0.44805551 | G624 | A623S | -0.40864995 | G460 | G460R | -0.36292471 | G628 | G628C | -0.2609352 | A174 | A174T | -0.015486577 |
(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 GRM5 from PDB |
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Differential gene expression and gene-gene network for GRM5 |
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 GRM5 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C1263846 | Attention Deficit Disorder with Hyperactivity | 3 | Biomarker, GeneticVariation |
umls:C0038220 | Status Epilepticus | 2 | Biomarker |
umls:C0236736 | Cocaine-Related Disorders | 1 | Biomarker |
umls:C0011882 | Diabetic Neuropathies | 1 | Biomarker |
umls:C0014556 | Epilepsy, Temporal Lobe | 1 | Biomarker |
umls:C0027796 | Neuralgia | 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 GRM5 |
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 |
Approved|investigational | DB00659 | Acamprosate | Small molecule | |
Investigational | DB05070 | ADX10059 | Small molecule | |
Investigational | DB06060 | ADX-48621 | Small molecule | |
Approved | DB06201 | Rufinamide | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of GRM5 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 51D | 3-CHLORO-4-FLUORO-5-[6-(1H-PYRAZOL-1-YL)PYRIMIDIN-4- YL]BENZONITRILE | 5cgc | A | G624 G628 S654 | 51E | 3-CHLORO-5-[6-(5-FLUOROPYRIDIN-2-YL)PYRIMIDIN-4- YL]BENZONITRILE | 5cgd | A | G624 S654 | 2U8 | METHYL (3AR,4S,7AR)-4-HYDROXY-4-[(3-METHYLPHENYL) ETHYNYL]OCTAHYDRO-1H-INDOLE-1-CARBOXYLATE | 4oo9 | A | G624 S654 L744 M802 S805 A813 | MG | MAGNESIUM(2+) | 3lmk | A | I79 D82 L86 | MG | MAGNESIUM(2+) | 3lmk | B | I79 D82 L86 | MG | MAGNESIUM(2+) | 3lmk | A | M189 N459 G460 | GLU | L-GLUTAMIC ACID | 3lmk | B | S151 A174 T175 D305 | GLU | L-GLUTAMIC ACID | 3lmk | A | W100 S151 A174 T175 D305 |
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Conservation information for LBS of GRM5 |
Multiple alignments for P41594 in multiple species |
LBS | AA sequence | # species | Species | A174 | QIAYSATSMDL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A810 | SVSLSATVALG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A813 | LSATVALGCMF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D305 | LLLGSDGWADR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D461 | FDENGDSPGRY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D82 | ERINSDPTLLP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F188 | TLFKYFMRVVP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F788 | IIWLAFVPIYF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G306 | LLGSDGWADRY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G460 | LFDENGDSPGR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G624 | YIILAGICLGY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G628 | AGICLGYLCTF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I625 | IILAGICLGYL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I651 | LQRIGIGLSPA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I79 | HTLERINSDPT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K182 | MDLSDKTLFKY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K396 | HVQDSKMGFVI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L179 | ATSMDLSDKTL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L744 | GVVTPLGYNGL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L85 | NSDPTLLPNIT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L86 | SDPTLLPNITL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M189 | LFKYFMRVVPS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M802 | YKIITMCFSVS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N459 | ILFDENGDSPG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N747 | TPLGYNGLLIL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N80 | TLERINSDPTL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P655 | GIGLSPAMSYS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P743 | LGVVTPLGYNG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S151 | VIGPGSSSVAI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S152 | IGPGSSSVAIQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S173 | PQIAYSATSMD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S654 | IGIGLSPAMSY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S658 | LSPAMSYSALV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S805 | ITMCFSVSLSA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S809 | FSVSLSATVAL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T175 | IAYSATSMDLS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V806 | TMCFSVSLSAT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W100 | IRDSCWHSAVA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W785 | TTCIIWLAFVP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y223 | HTEGNYGESGM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y64 | AVREQYGIQRV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y659 | SPAMSYSALVT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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