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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]
Nuclear receptors Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Candidate cancer biomarkers Disease related genes FDA approved drug targets Small molecule drugs Protein evidence (Kim et al 2014)
Nuclear receptors Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Candidate cancer biomarkers Disease related genes FDA approved drug targets Small molecule drugs
Nuclear receptors Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Candidate cancer biomarkers Disease related genes FDA approved drug targets Small molecule drugs Protein evidence (Kim et al 2014)
Nuclear receptors Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Candidate cancer biomarkers Disease related genes FDA approved drug targets Small molecule drugs Protein evidence (Kim et al 2014)
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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000790 [nuclear chromatin] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0003707 [steroid hormone receptor activity] GO:0003714 [transcription corepressor activity] GO:0004887 [thyroid hormone receptor activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription from RNA polymerase II promoter] GO:0006367 [transcription initiation from RNA polymerase II promoter] GO:0007605 [sensory perception of sound] GO:0007621 [negative regulation of female receptivity] GO:0008016 [regulation of heart contraction] GO:0008050 [female courtship behavior] GO:0008270 [zinc ion binding] GO:0009887 [organ morphogenesis] GO:0010467 [gene expression] GO:0019899 [enzyme binding] GO:0030522 [intracellular receptor signaling pathway] GO:0031490 [chromatin DNA binding] GO:0043401 [steroid hormone mediated signaling pathway] GO:0043565 [sequence-specific DNA binding] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0060509 [Type I pneumocyte differentiation] GO:0070062 [extracellular exosome] GO:0070324 [thyroid hormone binding]
