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mutLBSgeneDB |
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| Gene summary for ESRRB |
 Gene summary |
| Basic gene Info. | Gene symbol | ESRRB |
| Gene name | estrogen-related receptor beta | |
| Synonyms | DFNB35|ERR2|ERRb|ESRL2|NR3B2 | |
| Cytomap | UCSC genome browser: 14q24.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004452.3, | |
| Description | ERR beta-2ERR-betaERRbeta-2estrogen receptor-like 2estrogen-related nuclear receptor betanuclear receptor ERRB2nuclear receptor subfamily 3 group B member 2orphan nuclear receptorsteroid hormone receptor ERR2 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 602167 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000119715 | ||
| HPRD : 03700 | ||
| Vega : OTTHUMG00000160457 | ||
| Protein | UniProt: O95718 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ESRRB | |
| BioGPS: 2103 | ||
| Pathway | NCI Pathway Interaction Database: ESRRB | |
| KEGG: ESRRB | ||
| REACTOME: ESRRB | ||
| Pathway Commons: ESRRB | ||
| Context | iHOP: ESRRB | |
| ligand binding site mutation search in PubMed: ESRRB | ||
| UCL Cancer Institute: ESRRB | ||
| 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 ESRRB. | 1. "Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H. Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. Am J Hum Genet. 2008 Jan;82(1):125-38. doi: 10.1016/j.ajhg.2007.09.008. PubMed PMID: 18179891; PubMed Central PMCID: PMC2253958. " 18179891 2. "Ben Saïd M, Ayedi L, Mnejja M, Hakim B, Khalfallah A, Charfeddine I, Khifagi C, Turki K, Ayadi H, Benzina Z, Ghorbel A, Castillo ID, Masmoudi S, Aifa MH. A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family. Eur J Med Genet. 2011 Nov-Dec;54(6):e535-41. doi: 10.1016/j.ejmg.2011.06.008. Epub 2011 Jul 13. PubMed PMID: 21802533. " 21802533 | |
| 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 ESRRB |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R152 | R150Q | COAD | 1 | R174 | G172C | LUAD | 1 | A122 | A122S | LUAD | 1 | R177 | R177L | LUAD | 1 | C106 | D108Y | LUAD | 1 | C103 | C103F | LUAD | 1 | C106 | C106Y | LUSC | 1 | R101,C103 | L102P | LUSC | 1 | R152 | R150Q | SKCM | 1 | R101 | R101H | STAD | 1 | R101 | R101C | STAD | 1 | Q156 | A157V | UCEC | 1 | R101 | R101H | UCEC | 1 | G116 | V117M | 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 ESRRB |
| 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 | R101 | R101H | -1.3070011 | R101 | L102P | -1.0306793 | C103 | L102P | -1.0306793 | R101 | R101C | -1.0226976 | C103 | C103F | -0.97070461 | A122 | A122S | -0.96366705 | C106 | C106Y | -0.86239578 | C106 | D108Y | -0.76701762 | R174 | G172C | -0.72566108 | R152 | R150Q | -0.69193138 | G116 | V117M | -0.63270099 | R177 | R177L | -0.50259372 | Q156 | A157V | -0.10175016 |
| (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 ESRRB from PDB |
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| Differential gene expression and gene-gene network for ESRRB |
| 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 ESRRB |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1837857 | Deafness, Autosomal Recessive 35 | 1 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ESRRB |
| 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 |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ESRRB go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 1lo1 | A | A122 R152 Q156 | ZN | ZINC(2+) | 1lo1 | A | C103 C106 | NUC | Nucleic Acids | 1lo1 | A | R101 G116 R174 R177 |
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| Conservation information for LBS of ESRRB |
| Multiple alignments for O95718 in multiple species |
| LBS | AA sequence | # species | Species | A122 | VASCEACKAFF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C103 | IPKRLCLVCGD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C106 | RLCLVCGDIAS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C120 | YGVASCEACKA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C123 | ASCEACKAFFK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E121 | GVASCEACKAF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G116 | SGYHYGVASCE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G180 | LDRVRGGRQKY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G181 | DRVRGGRQKYK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H114 | IASGYHYGVAS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K124 | SCEACKAFFKR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K128 | CKAFFKRTIQG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K153 | TKRRRKSCQAC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K184 | RGGRQKYKRRL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q132 | FKRTIQGNIEY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q156 | RRKSCQACRFM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q183 | VRGGRQKYKRR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R101 | NAIPKRLCLVC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R129 | KAFFKRTIQGN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R152 | ITKRRRKSCQA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R174 | LKEGVRLDRVR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R177 | GVRLDRVRGGR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R179 | RLDRVRGGRQK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R182 | RVRGGRQKYKR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V178 | VRLDRVRGGRQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y113 | DIASGYHYGVA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y115 | ASGYHYGVASC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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