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mutLBSgeneDB |
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| Gene summary for THRA |
 Gene summary |
| Basic gene Info. | Gene symbol | THRA |
| Gene name | thyroid hormone receptor, alpha | |
| Synonyms | AR7|CHNG6|EAR7|ERB-T-1|ERBA|ERBA1|NR1A1|THRA1|THRA2|c-ERBA-1 | |
| Cytomap | UCSC genome browser: 17q11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001190918.1, NM_001190919.1,NM_003250.5,NM_199334.3, | |
| Description | EAR-7ERBA-related 7V-erbA-related protein 7c-erbA-alphanuclear receptor subfamily 1 group A member 1thyroid hormone receptor alphathyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)thyroid normone nucle | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 190120 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000126351 | ||
| HPRD : 07185 | ||
| Vega : OTTHUMG00000133332 | ||
| Protein | UniProt: P10827 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_THRA | |
| BioGPS: 7067 | ||
| Pathway | NCI Pathway Interaction Database: THRA | |
| KEGG: THRA | ||
| REACTOME: THRA | ||
| Pathway Commons: THRA | ||
| Context | iHOP: THRA | |
| ligand binding site mutation search in PubMed: THRA | ||
| UCL Cancer Institute: THRA | ||
| 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:0006357 | regulation of transcription from RNA polymerase II promoter | 18052923 | GO:0006366 | transcription from RNA polymerase II promoter | 8710870 | GO:0009755 | hormone-mediated signaling pathway | 18052923 | GO:0017055 | negative regulation of RNA polymerase II transcriptional preinitiation complex assembly | 8524305 | GO:0045892 | negative regulation of transcription, DNA-templated | 8710870 | GO:2000143 | negative regulation of DNA-templated transcription, initiation | 8524305 |
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| Ligand binding site mutations for THRA |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | G291 | G291S | COAD | 1 | L287 | E285G | COAD | 1 | E339 | E339Q | HNSC | 1 | L292 | V294I | STAD | 1 | L287 | K288E | 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 THRA |
| 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 | G291 | G291S | -1.5313892 | E339 | E339Q | -1.1457982 | L292 | V294I | -0.92515102 | L287 | E285G | -0.63900362 | L287 | K288E | -0.53474202 |
| (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 THRA from PDB |
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| Differential gene expression and gene-gene network for THRA |
| 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 THRA |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0014175 | Endometriosis | 1 | Biomarker |
| umls:C0019284 | Hernia, Diaphragmatic | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for THRA |
| 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 | DB03176 | 3,5-Dichloro-4-[(4-Hydroxy-3-Isopropylphenoxy)Phenylacetic Acid | Small molecule |  |
| Investigational | DB05035 | KB2115 | Small molecule |  |
| Investigational | DB05235 | NRP409 | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of THRA go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | T3 | 3,3',5-TRIIODO-L-THYRONINE | 4lnw | A | E339 | T44 | L-THYROXINE | 4lnx | A | E339 | T3 | 3,3',5-TRIIODO-L-THYRONINE | 2h77 | A | G291 L292 | B72 | SOBETIROME | 3hzf | A | G291 L292 | T3 | 3,3',5-TRIIODO-L-THYRONINE | 4lnx | A | G291 L292 | B72 | SOBETIROME | 3ilz | A | L287 G291 L292 | IH5 | [4-(4-HYDROXY-3-ISOPROPYLPHENOXY)-3,5-DIMETHYLPHENYL]ACETIC ACID | 1nav | A | L292 | T3 | 3,3',5-TRIIODO-L-THYRONINE | 2h79 | A | L292 | 4HY | [4-(4-HYDROXY-3-IODO-PHENOXY)-3,5-DIIODO-PHENYL]-ACETIC ACID | 3jzb | A | L292 | T3 | 3,3',5-TRIIODO-L-THYRONINE | 4lnw | A | L292 |
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| Conservation information for LBS of THRA |
| Multiple alignments for P10827 in multiple species |
| LBS | AA sequence | # species | Species | A225 | KIITPAITRVV | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio, Gallus gallus | A263 | IMSLRAAVRYD | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio, Gallus gallus | E339 | CVDKIEKSQEA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E339 | CVEKIEKCQEM | 1 | Danio rerio | E339 | CVDKIEKCQET | 1 | Gallus gallus | F215 | VDLEAFSEFTK | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio, Gallus gallus | F218 | EAFSEFTKIIT | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio, Gallus gallus | G278 | TLTLSGEMAVK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus | G278 | TLTLSGEMAVS | 1 | Danio rerio | G290 | EQLKNGGLGVV | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio, Gallus gallus | G291 | QLKNGGLGVVS | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio, Gallus gallus | I221 | SEFTKIITPAI | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio, Gallus gallus | I222 | EFTKIITPAIT | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio, Gallus gallus | I299 | VVSDAIFELGK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I299 | VVSDAIFDLGK | 2 | Danio rerio, Gallus gallus | L276 | SDTLTLSGEMA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L276 | SETLTLSGEMA | 2 | Danio rerio, Gallus gallus | L287 | VKREQLKNGGL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus | L287 | VSREQLKNGGL | 1 | Danio rerio | L292 | LKNGGLGVVSD | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio, Gallus gallus | M256 | LKGCCMEIMSL | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio, Gallus gallus | M259 | CCMEIMSLRAA | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio, Gallus gallus | Q342 | KIEKSQEAYLL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q342 | KIEKCQEMYLL | 1 | Danio rerio | Q342 | KIEKCQETYLL | 1 | Gallus gallus | R228 | TPAITRVVDFA | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio, Gallus gallus | R262 | EIMSLRAAVRY | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio, Gallus gallus | R266 | LRAAVRYDPES | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio, Gallus gallus | S260 | CMEIMSLRAAV | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio, Gallus gallus | S277 | DTLTLSGEMAV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S277 | ETLTLSGEMAV | 2 | Danio rerio, Gallus gallus | T219 | AFSEFTKIITP | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio, Gallus gallus | T275 | ESDTLTLSGEM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T275 | ESETLTLSGEM | 2 | Danio rerio, Gallus gallus |
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