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mutLBSgeneDB |
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| Gene summary for THRB |
 Gene summary |
| Basic gene Info. | Gene symbol | THRB |
| Gene name | thyroid hormone receptor, beta | |
| Synonyms | C-ERBA-2|C-ERBA-BETA|ERBA2|GRTH|NR1A2|PRTH|THR1|THRB1|THRB2 | |
| Cytomap | UCSC genome browser: 3p24.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000461.4, NM_001128176.2,NM_001128177.1,NM_001252634.1, | |
| Description | nuclear receptor subfamily 1 group A member 2oncogene ERBA2thyroid hormone nuclear receptor beta variant 1thyroid hormone receptor betathyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian) | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 190160 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000151090 | ||
| HPRD : 07521 | ||
| Vega : OTTHUMG00000130478 | ||
| Protein | UniProt: P10828 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_THRB | |
| BioGPS: 7068 | ||
| Pathway | NCI Pathway Interaction Database: THRB | |
| KEGG: THRB | ||
| REACTOME: THRB | ||
| Pathway Commons: THRB | ||
| Context | iHOP: THRB | |
| ligand binding site mutation search in PubMed: THRB | ||
| UCL Cancer Institute: THRB | ||
| 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 THRB. | 1. "Paragliola RM, Concolino P, De Rosa A, Mello E, Zuppi C, Pontecorvi A, Capoluongo E, Corsello SM. The first case of association between postpartum thyroiditis and thyroid hormone resistance in an Italian patient showing a novel p.V283A THRB mutation. Thyroid. 2013 Apr;23(4):506-10. doi: 10.1089/thy.2012.0080. Epub 2013 Mar 18." 23134553 | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0030522 | intracellular receptor signaling pathway | 15466465 |
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| Ligand binding site mutations for THRB |
| 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 | D366 | D367N | BRCA | 1 | E125 | E125K | COAD | 1 | R165 | F166Y | COAD | 1 | F451 | L450I | COAD | 1 | R133 | T134A | COAD | 1 | A317 | A317T | COAD | 1 | L178 | L178M | LUAD | 1 | L178 | D177N | LUSC | 1 | N331 | G332E | SKCM | 1 | F403 | A402V | SKCM | 1 | R189 | R189S | SKCM | 1 | K188 | A187D | SKCM | 1 | I353 | A352T | STAD | 1 | E457,F455 | L456S | STAD | 1 | R158 | R158L | STAD | 1 | S314 | S314A | STAD | 1 | R320 | V319M | UCEC | 1 | I353 | A352V | UCEC | 1 | R196 | R196W | 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 THRB |
| 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 | F455 | L456S | -1.4954389 | E457 | L456S | -1.4954389 | I353 | A352T | -1.4108827 | F451 | L450I | -1.2708753 | I353 | A352V | -1.1320327 | R165 | F166Y | -1.0490555 | K188 | A187D | -1.0222338 | D366 | D367N | -1.0085977 | R189 | R189S | -0.9593743 | R133 | T134A | -0.91327819 | L178 | L178M | -0.89183666 | E125 | E125K | -0.74627277 | A317 | A317T | -0.64892699 | R196 | R196W | -0.55656254 | F403 | A402V | -0.43541837 | R320 | V319M | -0.42959768 | S314 | S314A | -0.38674892 | L178 | D177N | -0.324497 | R158 | R158L | -0.27845476 | N331 | G332E | -0.059421666 |
| (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 THRB from PDB |
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| Differential gene expression and gene-gene network for THRB |
| 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 THRB |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C2940786 | Thyroid Hormone Resistance Syndrome | 40 | Biomarker, GeneticVariation |
| umls:C2937288 | Thyroid Hormone Resistance, Generalized, Autosomal Dominant | 2 | Biomarker, GeneticVariation |
| umls:C3489796 | Thyroid Hormone Resistance, Generalized, Autosomal Recessive | 2 | Biomarker, GeneticVariation |
| umls:C0376634 | Craniofacial Abnormalities | 1 | Biomarker |
| umls:C0019284 | Hernia, Diaphragmatic | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| 27581 | A317T | Pathogenic | Germline | MedGen:C2937288 OMIM:188570 |
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| Pharmacological information for THRB |
| 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 |
| Approved|vet_approved | DB00279 | Liothyronine | Small molecule |  |
| Approved | DB00451 | Levothyroxine | Small molecule |  |
| Approved | DB00509 | Dextrothyroxine | Small molecule |  |
| Approved | DB01583 | Liotrix | Small molecule |  |
| Experimental | DB02106 | [3,5-Dibromo-4-(4-Hydroxy-3-Phenethylcarbamoyl-Phenoxy)-Phenyl]-Acetic Acid | Small molecule |  |
| Experimental | DB03176 | 3,5-Dichloro-4-[(4-Hydroxy-3-Isopropylphenoxy)Phenylacetic Acid | Small molecule |  |
| Experimental | DB03181 | 2-[4-(4-Hydroxy-3-Isopropyl-Phenoxy)-3,5-Dimethyl-Phenyl]-2h-[1,2,4]Triazine-3,5-Dione | Small molecule |  |
| Experimental | DB03604 | [4-(4-Hydroxy-3-Iodo-Phenoxy)-3,5-Diiodo-Phenyl]-Acetic Acid | Small molecule |  |
| Experimental | DB03788 | GC-24 | Small molecule |  |
| Investigational | DB05035 | KB2115 | Small molecule |  |
| Investigational | DB05192 | MB07811 | Small molecule |  |
| Experimental | DB07425 | {4-[4-hydroxy-3-(1-methylethyl)benzyl]-3,5-dimethylphenoxy}acetic acid | Small molecule |  |
| Experimental | DB08085 | 1-(4-HEXYLPHENYL)PROP-2-EN-1-ONE | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of THRB go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 4HY | [4-(4-HYDROXY-3-IODO-PHENOXY)-3,5-DIIODO-PHENYL]-ACETIC ACID | 1nuo | A | A317 N331 I353 F455 | T3 | 3,3',5-TRIIODO-L-THYRONINE | 1xzx | X | A317 N331 I353 F455 | T3 | 3,3',5-TRIIODO-L-THYRONINE | 3gws | X | A317 N331 I353 F455 | B72 | SOBETIROME | 3imy | A | A317 N331 I353 F455 | PFA | [4-(4-HYDROXY-3-ISOPROPYL-PHENOXY)-3,5-DIMETHYL-PHENYL]-6-AZAURACIL | 1n46 | A | A317 R320 N331 I353 F455 | PFA | [4-(4-HYDROXY-3-ISOPROPYL-PHENOXY)-3,5-DIMETHYL-PHENYL]-6-AZAURACIL | 1n46 | B | A317 R320 N331 I353 F455 | 4HY | [4-(4-HYDROXY-3-IODO-PHENOXY)-3,5-DIIODO-PHENYL]-ACETIC ACID | 1nq0 | A | A317 R320 N331 I353 F455 | 4HY | [4-(4-HYDROXY-3-IODO-PHENOXY)-3,5-DIIODO-PHENYL]-ACETIC ACID | 1nq1 | A | A317 R320 N331 I353 F455 | 4HY | [4-(4-HYDROXY-3-IODO-PHENOXY)-3,5-DIIODO-PHENYL]-ACETIC ACID | 2pin | A | A317 R320 N331 I353 F455 | 4HY | [4-(4-HYDROXY-3-IODO-PHENOXY)-3,5-DIIODO-PHENYL]-ACETIC ACID | 2pin | B | A317 R320 N331 I353 F455 | 4HY | [4-(4-HYDROXY-3-IODO-PHENOXY)-3,5-DIIODO-PHENYL]-ACETIC ACID | 3d57 | A | A317 R320 N331 I353 F455 | 4HY | [4-(4-HYDROXY-3-IODO-PHENOXY)-3,5-DIIODO-PHENYL]-ACETIC ACID | 3d57 | B | A317 R320 N331 I353 F455 | T3 | 3,3',5-TRIIODO-L-THYRONINE | 4zo1 | X | A317 R320 N331 I353 F455 | G24 | [4-(3-BENZYL-4-HYDROXYBENZYL)-3,5-DIMETHYLPHENOXY]ACETIC ACID | 1q4x | A | D366 | III | Peptide ligand (HIS,LYS,ILE,LEU,HIS,ARG,LEU,LEU,GLN,ASP,SER,SER) | 1bsx | A | E457 | III | Peptide ligand (HIS,LYS,ILE,LEU,HIS,ARG,LEU,LEU,GLN,ASP,SER,SER) | 1bsx | B | E457 | III | Peptide ligand (HIS,LYS,ILE,LEU,HIS,ARG,LEU,LEU) | 4zo1 | X | E457 | IH5 | [4-(4-HYDROXY-3-ISOPROPYLPHENOXY)-3,5-DIMETHYLPHENYL]ACETIC ACID | 1nax | A | N331 I353 F455 | 4HY | [4-(4-HYDROXY-3-IODO-PHENOXY)-3,5-DIIODO-PHENYL]-ACETIC ACID | 1nq2 | A | N331 I353 F455 | OEF | 3,5-DIBROMO-4-(3-ISOPROPYL-PHENOXY)BENZOICACID | 2j4a | A | R320 I353 F455 | G24 | [4-(3-BENZYL-4-HYDROXYBENZYL)-3,5-DIMETHYLPHENOXY]ACETIC ACID | 1q4x | A | R320 N331 F451 F455 | 442 | [3,5-DIBROMO-4-(4-HYDROXY-3-PHENETHYLCARBAMOYL-PHENOXY)-PHENYL]-ACETIC ACID | 1r6g | A | R320 N331 I353 F455 | 4HY | [4-(4-HYDROXY-3-IODO-PHENOXY)-3,5-DIIODO-PHENYL]-ACETIC ACID | 3jzc | A | R320 N331 I353 F455 | T3 | 3,3',5-TRIIODO-L-THYRONINE | 1bsx | A | S314 N331 I353 F455 | T3 | 3,3',5-TRIIODO-L-THYRONINE | 1bsx | B | S314 N331 I353 F455 | T44 | L-THYROXINE | 1y0x | X | S314 N331 I353 F455 |
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| Conservation information for LBS of THRB |
| Multiple alignments for P10828 in multiple species |
| LBS | AA sequence | # species | Species | A279 | KIITPAITRVV | 3 | Homo sapiens, Danio rerio, Mus musculus | A317 | IMSLRAAVRYD | 3 | Homo sapiens, Danio rerio, Mus musculus | C107 | DKDELCVVCGD | 3 | Homo sapiens, Danio rerio, Mus musculus | C110 | ELCVVCGDKAT | 3 | Homo sapiens, Danio rerio, Mus musculus | C124 | YRCITCEGCKG | 3 | Homo sapiens, Danio rerio, Mus musculus | C127 | ITCEGCKGFFR | 3 | Homo sapiens, Danio rerio, Mus musculus | D366 | SSFNLDDTEVA | 2 | Homo sapiens, Mus musculus | D366 | SSFNLDDSEVA | 1 | Danio rerio | E125 | RCITCEGCKGF | 3 | Homo sapiens, Danio rerio, Mus musculus | E457 | PPLFLEVFED | 3 | Homo sapiens, Danio rerio, Mus musculus | F130 | EGCKGFFRRTI | 3 | Homo sapiens, Danio rerio, Mus musculus | F269 | VDLEAFSHFTK | 2 | Homo sapiens, Mus musculus | F269 | VDIEAFSQFTK | 1 | Danio rerio | F272 | EAFSHFTKIIT | 2 | Homo sapiens, Mus musculus | F272 | EAFSQFTKIIT | 1 | Danio rerio | F403 | SFLLAFEHYIN | 2 | Homo sapiens, Mus musculus | F403 | EFLLAFEHYIN | 1 | Danio rerio | F439 | CHASRFLHMKV | 3 | Homo sapiens, Danio rerio, Mus musculus | F451 | CPTELFPPLFL | 3 | Homo sapiens, Danio rerio, Mus musculus | F455 | LFPPLFLEVFE | 3 | Homo sapiens, Danio rerio, Mus musculus | G126 | CITCEGCKGFF | 3 | Homo sapiens, Danio rerio, Mus musculus | G344 | GQLKNGGLGVV | 3 | Homo sapiens, Danio rerio, Mus musculus | G345 | QLKNGGLGVVS | 3 | Homo sapiens, Danio rerio, Mus musculus | H118 | KATGYHYRCIT | 3 | Homo sapiens, Danio rerio, Mus musculus | H435 | MIGACHASRFL | 3 | Homo sapiens, Danio rerio, Mus musculus | I275 | SHFTKIITPAI | 2 | Homo sapiens, Mus musculus | I275 | SQFTKIITPAI | 1 | Danio rerio | I276 | HFTKIITPAIT | 2 | Homo sapiens, Mus musculus | I276 | QFTKIITPAIT | 1 | Danio rerio | I302 | PCEDQIILLKG | 3 | Homo sapiens, Danio rerio, Mus musculus | I353 | VVSDAIFDLGM | 2 | Homo sapiens, Mus musculus | I353 | VVSDAIFDLGV | 1 | Danio rerio | K128 | TCEGCKGFFRR | 3 | Homo sapiens, Danio rerio, Mus musculus | K188 | SKRLAKRKLIE | 3 | Homo sapiens, Danio rerio, Mus musculus | K288 | VVDFAKKLPMF | 3 | Homo sapiens, Danio rerio, Mus musculus | K306 | QIILLKGCCME | 3 | Homo sapiens, Danio rerio, Mus musculus | L178 | GMATDLVLDDS | 3 | Homo sapiens, Danio rerio, Mus musculus | L180 | ATDLVLDDSKR | 3 | Homo sapiens, Danio rerio, Mus musculus | L330 | SETLTLNGEMA | 2 | Homo sapiens, Mus musculus | L330 | SDTLTLNGEMA | 1 | Danio rerio | L341 | VTRGQLKNGGL | 3 | Homo sapiens, Danio rerio, Mus musculus | L346 | LKNGGLGVVSD | 3 | Homo sapiens, Danio rerio, Mus musculus | L365 | LSSFNLDDTEV | 2 | Homo sapiens, Mus musculus | L365 | LSSFNLDDSEV | 1 | Danio rerio | L454 | ELFPPLFLEVF | 3 | Homo sapiens, Danio rerio, Mus musculus | M310 | LKGCCMEIMSL | 3 | Homo sapiens, Danio rerio, Mus musculus | M313 | CCMEIMSLRAA | 3 | Homo sapiens, Danio rerio, Mus musculus | M442 | SRFLHMKVECP | 3 | Homo sapiens, Danio rerio, Mus musculus | N159 | DKVTRNQCQEC | 3 | Homo sapiens, Danio rerio, Mus musculus | N195 | KLIEENREKRR | 2 | Homo sapiens, Mus musculus | N195 | KLIEENRERRR | 1 | Danio rerio | N331 | ETLTLNGEMAV | 2 | Homo sapiens, Mus musculus | N331 | DTLTLNGEMAV | 1 | Danio rerio | P453 | TELFPPLFLEV | 3 | Homo sapiens, Danio rerio, Mus musculus | Q136 | FRRTIQKNLHP | 1 | Homo sapiens | Q136 | FRRTIQKNLNP | 1 | Danio rerio | Q136 | FRRTIQKSLHP | 1 | Mus musculus | Q162 | TRNQCQECRFK | 3 | Homo sapiens, Danio rerio, Mus musculus | Q301 | LPCEDQIILLK | 3 | Homo sapiens, Danio rerio, Mus musculus | R132 | CKGFFRRTIQK | 3 | Homo sapiens, Danio rerio, Mus musculus | R133 | KGFFRRTIQKN | 2 | Homo sapiens, Danio rerio | R133 | KGFFRRTIQKS | 1 | Mus musculus | R158 | IDKVTRNQCQE | 3 | Homo sapiens, Danio rerio, Mus musculus | R165 | QCQECRFKKCI | 3 | Homo sapiens, Danio rerio, Mus musculus | R185 | LDDSKRLAKRK | 3 | Homo sapiens, Danio rerio, Mus musculus | R189 | KRLAKRKLIEE | 3 | Homo sapiens, Danio rerio, Mus musculus | R196 | LIEENREKRRR | 2 | Homo sapiens, Mus musculus | R196 | LIEENRERRRR | 1 | Danio rerio | R282 | TPAITRVVDFA | 3 | Homo sapiens, Danio rerio, Mus musculus | R316 | EIMSLRAAVRY | 3 | Homo sapiens, Danio rerio, Mus musculus | R320 | LRAAVRYDPES | 2 | Homo sapiens, Danio rerio | R320 | LRAAVRYDPDS | 1 | Mus musculus | R438 | ACHASRFLHMK | 3 | Homo sapiens, Danio rerio, Mus musculus | S314 | CMEIMSLRAAV | 3 | Homo sapiens, Danio rerio, Mus musculus | T273 | AFSHFTKIITP | 2 | Homo sapiens, Mus musculus | T273 | AFSQFTKIITP | 1 | Danio rerio | T281 | ITPAITRVVDF | 3 | Homo sapiens, Danio rerio, Mus musculus | T329 | ESETLTLNGEM | 1 | Homo sapiens | T329 | ESDTLTLNGEM | 1 | Danio rerio | T329 | DSETLTLNGEM | 1 | Mus musculus | V179 | MATDLVLDDSK | 3 | Homo sapiens, Danio rerio, Mus musculus | V284 | AITRVVDFAKK | 3 | Homo sapiens, Danio rerio, Mus musculus | V458 | PLFLEVFED | 3 | Homo sapiens, Danio rerio, Mus musculus | Y117 | DKATGYHYRCI | 3 | Homo sapiens, Danio rerio, Mus musculus | Y119 | ATGYHYRCITC | 3 | Homo sapiens, Danio rerio, Mus musculus |
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