THRB
Summary: The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:190160 Ensembl IDEnsembl:ENSG00000151090 HGNC IDHGNC:HGNC:11799 PHARMGKB IDPA36508 Map Location3p24.2 | |||||
GO terms in THRB
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0000976 | transcription regulatory region sequence-specific DNA binding |
| MF | IBA | GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IBA | GO:0001076 | transcription factor activity, RNA polymerase II transcription factor binding |
Gene expression in normal tissue: THRB
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in THRB
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-2990846 | SUMOylation |
| reactome | R-HSA-3108232 | SUMO E3 ligases SUMOylate target proteins |
| reactome | R-HSA-383280 | Nuclear Receptor transcription pathway |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-4090294 | SUMOylation of intracellular receptors |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD409 | Saracatinib | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in THRB
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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