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mutLBSgeneDB |
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| Gene summary for ESRRG |
 Gene summary |
| Basic gene Info. | Gene symbol | ESRRG |
| Gene name | estrogen-related receptor gamma | |
| Synonyms | ERR3|ERRgamma|NR3B3 | |
| Cytomap | UCSC genome browser: 1q41 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001134285.2, NM_001243505.1,NM_001243506.1,NM_001243507.1,NM_001243509.1, NM_001243510.1,NM_001243511.1,NM_001243512.1,NM_001243513.1, NM_001243514.1,NM_001243515.1,NM_001243518.1,NM_001243519.1, NM_001438.3,NM_206594.2,NM_206595.2, | |
| Description | ERR gamma-2estrogen receptor-related protein 3nuclear receptor subfamily 3 group B member 3 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 602969 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000196482 | ||
| HPRD : 04274 | ||
| Vega : OTTHUMG00000037025 | ||
| Protein | UniProt: P62508 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ESRRG | |
| BioGPS: 2104 | ||
| Pathway | NCI Pathway Interaction Database: ESRRG | |
| KEGG: ESRRG | ||
| REACTOME: ESRRG | ||
| Pathway Commons: ESRRG | ||
| Context | iHOP: ESRRG | |
| ligand binding site mutation search in PubMed: ESRRG | ||
| UCL Cancer Institute: ESRRG | ||
| 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:0006355 | regulation of transcription, DNA-templated | 23836911 |
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| Ligand binding site mutations for ESRRG |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D273 | D273N | COAD | 1 | V243 | L241M | COAD | 1 | D273 | D273Y | HNSC | 1 | V313 | G312R | LUAD | 1 | K284 | H285N | LUAD | 1 | A244 | A244P | LUSC | 1 | I280 | I279V | LUSC | 1 | A272 | A272V | LUSC | 1 | G281 | W282C | SKCM | 1 | L309 | I308M | STAD | 1 | M298 | M298R | STAD | 1 | E441 | K443R | UCEC | 1 | L309 | I310V | UCEC | 1 | L342 | G341C | UCEC | 1 | W305 | W305C | 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 ESRRG |
| 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 | W305 | W305C | -1.753853 | L309 | I310V | -1.4922558 | I280 | I279V | -1.2317154 | V243 | L241M | -1.095337 | L309 | I308M | -0.94624331 | D273 | D273N | -0.87695526 | G281 | W282C | -0.87361014 | V313 | G312R | -0.82516991 | A272 | A272V | -0.78773521 | L342 | G341C | -0.61394089 | M298 | M298R | -0.58179083 | E441 | K443R | -0.5198775 | D273 | D273Y | -0.4998261 | A244 | A244P | -0.33440395 | K284 | H285N | -0.17288308 |
| (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 ESRRG from PDB |
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| Differential gene expression and gene-gene network for ESRRG |
| 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 ESRRG |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ESRRG |
| 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 |
| Withdrawn | DB00197 | Troglitazone | Small molecule |  |
| Approved | DB00255 | Diethylstilbestrol | Small molecule |  |
| Approved | DB02659 | Cholic Acid | Small molecule |  |
| Investigational | DB04468 | Afimoxifene | Small molecule |  |
| Experimental | DB06884 | 4-HYDROXY-N'-(4-ISOPROPYLBENZYL)BENZOHYDRAZIDE | Small molecule |  |
| Experimental | DB06902 | 4-(1-methyl-1-phenylethyl)phenol | Small molecule |  |
| Experimental | DB06973 | 4,4'-PROPANE-2,2-DIYLDIPHENOL | Small molecule |  |
| Experimental | DB07485 | 4,4'-cyclohexane-1,1-diyldiphenol | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ESRRG go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | OHT | AFIMOXIFENE | 2gpv | C | A272 D273 L309 L342 | OHT | AFIMOXIFENE | 1vjb | B | A272 D273 L309 V313 | OHT | AFIMOXIFENE | 1vjb | A | A272 D273 L309 V313 L342 | OHT | AFIMOXIFENE | 2gpv | A | A272 D273 L342 | OHT | AFIMOXIFENE | 2gpv | B | A272 D273 W305 L309 | OHT | AFIMOXIFENE | 2gpv | D | A272 D273 W305 L309 L342 | OHT | AFIMOXIFENE | 2gpv | E | A272 D273 W305 L309 L342 | OHT | AFIMOXIFENE | 2gpv | F | A272 D273 W305 L309 L342 | OHT | AFIMOXIFENE | 2p7z | A | A272 D273 W305 L309 L342 | OHT | AFIMOXIFENE | 2gpu | A | A272 D273 W305 L309 L342 E441 | TXF | (Z)-4-(1-{4-[2-(DIMETHYLAMINO)ETHOXY]PHENYL}-5-HYDROXY-2-PHENYLPENT-1-ENYL)PHENOL | 2ewp | A | A272 D273 W305 L309 V313 E441 | TXF | (Z)-4-(1-{4-[2-(DIMETHYLAMINO)ETHOXY]PHENYL}-5-HYDROXY-2-PHENYLPENT-1-ENYL)PHENOL | 2ewp | C | A272 D273 W305 L309 V313 L342 | TXF | (Z)-4-(1-{4-[2-(DIMETHYLAMINO)ETHOXY]PHENYL}-5-HYDROXY-2-PHENYLPENT-1-ENYL)PHENOL | 2ewp | B | A272 D273 W305 L309 V313 L342 E441 | TXF | (Z)-4-(1-{4-[2-(DIMETHYLAMINO)ETHOXY]PHENYL}-5-HYDROXY-2-PHENYLPENT-1-ENYL)PHENOL | 2ewp | D | A272 D273 W305 L309 V313 L342 E441 | TXF | (Z)-4-(1-{4-[2-(DIMETHYLAMINO)ETHOXY]PHENYL}-5-HYDROXY-2-PHENYLPENT-1-ENYL)PHENOL | 2ewp | E | A272 D273 W305 L309 V313 L342 E441 | 2OH | BISPHENOL A | 2e2r | A | A272 L309 | 2OH | BISPHENOL A | 2p7g | A | A272 L309 | 1OH | 4-ALPHA-CUMYLPHENOL | 2zas | A | A272 L309 | BPZ | PHENOL,4'-CYCLOHEXYLIDENEBIS- | 2zkc | A | A272 L309 | 1BA | 4-HYDROXY-N'-(4-ISOPROPYLBENZYL)BENZOHYDRAZIDE | 2gpp | A | A272 L309 V313 | 43M | 4-CHLORO-3-METHYLPHENOL | 2p7a | A | A272 L309 V313 | III | Peptide ligand (SER,LEU,LEU,LEU,HIS,LEU,LEU,LYS,SER,GLN,THR,ILE,PRO) | 2gpp | B | I280 G281 K284 M298 | III | Peptide ligand (HIS,LYS,ILE,LEU,HIS,ARG,LEU,LEU,GLN,GLU,GLY) | 1kv6 | B | I280 K284 M298 | III | Peptide ligand (HIS,LYS,ILE,LEU,HIS,ARG,LEU,LEU,GLN,GLU,GLY) | 1tfc | A | I280 K284 M298 | III | Peptide ligand (HIS,LYS,ILE,LEU,HIS,ARG,LEU,LEU,GLN,GLU) | 1tfc | B | I280 K284 M298 | III | Peptide ligand (SER,LEU,LEU,LEU,HIS,LEU,LEU,LYS,SER,GLN) | 2gpo | A | I280 K284 M298 | III | Peptide ligand (SER,LEU,LEU,LEU,HIS,LEU,LEU,LYS,SER,GLN,THR) | 2gpp | A | I280 K284 M298 | III | Peptide ligand (GLY,LEU,GLU,ALA,ILE,ILE,ARG,LYS,ALA,LEU,MET,GLY) | 2gpv | A | I280 K284 M298 W305 | III | Peptide ligand (GLY,LEU,GLU,ALA,ILE,ILE,ARG,LYS,ALA,LEU,MET,GLY) | 2gpv | C | I280 K284 M298 W305 | III | Peptide ligand (HIS,LYS,ILE,LEU,HIS,ARG,LEU,LEU,GLN,GLU) | 1kv6 | A | I280 M298 | III | Peptide ligand (GLY,LEU,GLU,ALA,ILE,ILE,ARG,LYS,ALA,LEU,MET,GLY) | 2gpv | B | I280 M298 W305 | CA | CALCIUM(2+) | 2gp7 | A | V243 A244 |
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| Conservation information for LBS of ESRRG |
| Multiple alignments for P62508 in multiple species |
| LBS | AA sequence | # species | Species | A244 | SHLLVAEPEKI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A272 | TLCDLADRELV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A327 | DELVYADDYIM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A431 | QTSTKAVQHFY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C269 | ALTTLCDLADR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D273 | LCDLADRELVV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D328 | ELVYADDYIMD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E245 | HLLVAEPEKIY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E247 | LVAEPEKIYAM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E275 | DLADRELVVII | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E441 | YNIKLEGKVPM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E452 | HKLFLEMLEAK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F435 | KAVQHFYNIKL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F450 | PMHKLFLEMLE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G281 | LVVIIGWAKHI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H434 | TKAVQHFYNIK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I249 | AEPEKIYAMPD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I280 | ELVVIIGWAKH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I349 | DLNNAILQLVK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I438 | QHFYNIKLEGK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K248 | VAEPEKIYAMP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K284 | IIGWAKHIPGF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K448 | KVPMHKLFLEM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L265 | SDIKALTTLCD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L268 | KALTTLCDLAD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L271 | TTLCDLADREL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L276 | LADRELVVIIG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L294 | FSTLSLADQMS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L301 | DQMSLLQSAWM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L309 | AWMEILILGVV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L342 | SKLAGLLDLNN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L345 | AGLLDLNNAIL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L440 | FYNIKLEGKVP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L449 | VPMHKLFLEML | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M298 | SLADQMSLLQS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M306 | LQSAWMEILIL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M446 | EGKVPMHKLFL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M453 | KLFLEMLEAKV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N346 | GLLDLNNAILQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q297 | LSLADQMSLLQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q302 | QMSLLQSAWME | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R316 | LGVVYRSLSFE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V243 | VSHLLVAEPEK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V277 | ADRELVVIIGW | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V313 | ILILGVVYRSL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V325 | FEDELVYADDY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W305 | LLQSAWMEILI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y326 | EDELVYADDYI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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