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 |
|---|---|---|---|---|---|
| thyroid hormone receptor beta | MIM:190160 | Ensembl:ENSG00000151090 | HGNC:HGNC:11799 | PA36508 | 3p24.2 |
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 |
| MF | TAS | GO:0003677 | DNA binding |
| MF | IBA | GO:0003700 | DNA-binding transcription factor activity |
| MF | NAS | GO:0003700 | DNA-binding transcription factor activity |
| MF | IEA | GO:0003707 | steroid hormone receptor activity |
| MF | TAS | GO:0003714 | transcription corepressor activity |
| MF | IBA | GO:0004879 | nuclear receptor activity |
| MF | IBA | GO:0004887 | thyroid hormone receptor activity |
| MF | IDA | GO:0004887 | thyroid hormone receptor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0008134 | transcription factor binding |
| MF | IEA | GO:0008270 | zinc ion binding |
| MF | IPI | GO:0019899 | enzyme binding |
| MF | IBA | GO:0030374 | nuclear receptor transcription coactivator activity |
| MF | IEA | GO:0031490 | chromatin DNA binding |
| MF | IEA | GO:0043565 | sequence-specific DNA binding |
| MF | IDA | GO:0070324 | thyroid hormone binding |
| MF | IBA | GO:0098531 | transcription factor activity, direct ligand regulated sequence-specific DNA binding |
| CC | IEA | GO:0000790 | nuclear chromatin |
| CC | IBA | GO:0005634 | nucleus |
| CC | TAS | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0016604 | nuclear body |
| CC | IBA | GO:0090575 | RNA polymerase II transcription factor complex |
| BP | IBA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IBA | GO:0002154 | thyroid hormone mediated signaling pathway |
| BP | TAS | GO:0006351 | transcription, DNA-templated |
| BP | TAS | GO:0006367 | transcription initiation from RNA polymerase II promoter |
| BP | IBA | GO:0007275 | multicellular organism development |
| BP | IEA | GO:0007605 | sensory perception of sound |
| BP | IEA | GO:0007621 | negative regulation of female receptivity |
| BP | IEA | GO:0008016 | regulation of heart contraction |
| BP | IEA | GO:0008050 | female courtship behavior |
| BP | IBA | GO:0009755 | hormone-mediated signaling pathway |
| BP | IBA | GO:0009887 | animal organ morphogenesis |
| BP | IEA | GO:0009887 | animal organ morphogenesis |
| BP | IBA | GO:0030154 | cell differentiation |
| BP | IEA | GO:0030522 | intracellular receptor signaling pathway |
| BP | IBA | GO:0030878 | thyroid gland development |
| BP | IBA | GO:0033993 | response to lipid |
| BP | IEA | GO:0043401 | steroid hormone mediated signaling pathway |
| BP | IBA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IBA | GO:0060509 | type I pneumocyte differentiation |
| BP | IEA | GO:0060509 | type I pneumocyte differentiation |
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 |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| netpath | Pathway_Prolactin | Prolactin |
| pid | rxr_vdr_pathway | RXR and RAR heterodimerization with other nuclear receptor |
| kegg | hsa04080 | Neuroactive ligand-receptor interaction - Homo sapiens (human) |
| kegg | hsa04919 | Thyroid hormone signaling pathway - Homo sapiens (human) |
| wikipathways | WP170 | Nuclear Receptors |
| wikipathways | WP3915 | Angiopoietin Like Protein 8 Regulatory Pathway |
| wikipathways | WP706 | Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in THRB
CLASSFICATION
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