Human Gene THRB (ENST00000646209.2_8) from GENCODE V45lift37
Description: Homo sapiens thyroid hormone receptor beta (THRB), transcript variant 9, mRNA. (from RefSeq NM_001354712) RefSeq Summary (NM_001354712): 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]. Gencode Transcript: ENST00000646209.2_8 Gencode Gene: ENSG00000151090.20_16 Transcript (Including UTRs) Position: hg19 chr3:24,158,644-24,536,341 Size: 377,698 Total Exon Count: 11 Strand: - Coding Region Position: hg19 chr3:24,164,375-24,270,450 Size: 106,076 Coding Exon Count: 8
ID:THB_HUMAN DESCRIPTION: RecName: Full=Thyroid hormone receptor beta; AltName: Full=Nuclear receptor subfamily 1 group A member 2; AltName: Full=c-erbA-2; AltName: Full=c-erbA-beta; FUNCTION: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine. SUBUNIT: Binds DNA as a dimer; homodimer and heterodimer with RXRA. Interacts with the coactivators NCOA1/SRC1, NCOA2/GRIP1, NCOA7 and MED1/TRAP220 in a ligand-inducible manner. Interacts with the corepressor NCOR1 in absence of ligand. Interacts with C1D (By similarity). Interacts with NR2F6; the interaction impairs the binding of the THRB homodimer and THRB:RXRB heterodimer to T3 response elements. Interacts with PRMT2 and THRSP. Interacts with TACC1; this interaction is decreased in the presence of thyroid hormone T3 (PubMed:20078863). INTERACTION: P10828; Q60974: Ncor1; Xeno; NbExp=2; IntAct=EBI-78558, EBI-349004; P10828-1; Q9Y618: NCOR2; NbExp=3; IntAct=EBI-3955784, EBI-80830; SUBCELLULAR LOCATION: Nucleus. DOMAIN: Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain. DISEASE: Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570]: An autosomal dominant disease characterized by high levels of circulating thyroid hormones (T3-T4), goiter, abnormal mental functions, increased susceptibility to infections, abnormal growth and bone maturation, tachycardia and deafness. Affected individuals may also have attention deficit-hyperactivity disorders (ADHD) and language difficulties. Patients have normal or slightly elevated thyroid stimulating hormone (TSH). te=The disease is caused by variants affecting the gene represented in this entry. DISEASE: Thyroid hormone resistance, generalized, autosomal recessive (GRTHR) [MIM:274300]: An autosomal recessive disorder characterized by goiter, clinical euthyroidism, end-organ unresponsiveness to thyroid hormone, abnormal growth and bone maturation, and deafness. Patients also have high levels of circulating thyroid hormones, with elevated thyroid stimulating hormone. Note=The disease is caused by variants affecting the gene represented in this entry. DISEASE: Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]: Variant form of thyroid hormone resistance and is characterized by clinical hyperthyroidism, with elevated free thyroid hormones, but inappropriately normal serum TSH. Unlike GRTH, where the syndrome usually segregates with a dominant allele, the mode of inheritance in PRTH has not been established. Note=The disease is caused by variants affecting the gene represented in this entry. SIMILARITY: Belongs to the nuclear hormone receptor family. NR1 subfamily. SEQUENCE CAUTION: Sequence=AAA35677.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=CAA28412.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=;
ADHD Weiss RE et al. 1994, Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation R316H in the thyroid hormone receptor beta gene., The Journal of clinical endocrinology and metabolism. 1994 Jun;78(6):1525-8.
[PubMed 8200958]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P10828
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Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000976 transcription regulatory region sequence-specific DNA binding GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding 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:0004879 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding GO:0005515 protein binding GO:0008134 transcription factor binding GO:0008270 zinc ion binding GO:0019899 enzyme binding GO:0030374 ligand-dependent nuclear receptor transcription coactivator activity GO:0031490 chromatin DNA binding GO:0038023 signaling receptor activity GO:0043565 sequence-specific DNA binding GO:0046872 metal ion binding GO:0070324 thyroid hormone binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0002154 thyroid hormone mediated signaling pathway 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:0007275 multicellular organism development 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:0009755 hormone-mediated signaling pathway GO:0009887 animal organ morphogenesis GO:0030154 cell differentiation GO:0030878 thyroid gland development GO:0033993 response to lipid GO:0042480 negative regulation of eye photoreceptor cell development GO:0043401 steroid hormone mediated signaling pathway GO:0045892 negative regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0046549 retinal cone cell development GO:0060509 Type I pneumocyte differentiation GO:0097474 retinal cone cell apoptotic process
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
