Thyroid hormone receptor beta

Thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)
File:PBB Protein THRB image.jpg PDB rendering based on 1bsx.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1bsx​, 1n46​, 1nax​, 1nq0​, 1nq1​, 1nq2​, 1nuo​, 1q4x​, 1r6g​, 1xzx​, 1y0x​, 2h6w​, 2nll​
Identifiers
Symbols	THRB ; ERBA-BETA; ERBA2; GRTH; MGC126109; MGC126110; NR1A2; THR1; THRB1; THRB2
External IDs	Template:OMIM5 Template:MGI HomoloGene: 36025
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE THRB 207044 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Thyroid hormone receptor beta (TR-beta) (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian), also known as NR1A2 (nuclear receptor subfamily 1, group A, member 2), is nuclear receptor protein encoded by the THRB gene.

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. Defects 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 transcript variants have been observed for this gene, but the full-length nature of only one has been observed so far.

Further reading

• Lazar MA, Chin WW (1991). "Nuclear thyroid hormone receptors". J. Clin. Invest. 86 (6): 1777–82. PMID 2254444.
• Forrest D, Reh TA, Rüsch A (2002). "Neurodevelopmental control by thyroid hormone receptors". Curr. Opin. Neurobiol. 12 (1): 49–56. PMID 11861164.CS1 maint: Multiple names: authors list (link)
• González-Sancho JM, García V, Bonilla F, Muñoz A (2003). "Thyroid hormone receptors/THR genes in human cancer". Cancer Lett. 192 (2): 121–32. PMID 12668276.CS1 maint: Multiple names: authors list (link)
• Cugini CD, Leidy JW, Chertow BS; et al. (1992). "An arginine to histidine mutation in codon 315 of the c-erbA beta thyroid hormone receptor in a kindred with generalized resistance to thyroid hormones results in a receptor with significant 3,5,3'-triiodothyronine binding activity". J. Clin. Endocrinol. Metab. 74 (5): 1164–70. PMID 1314846.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Behr M, Loos U (1992). "A point mutation (Ala229 to Thr) in the hinge domain of the c-erbA beta thyroid hormone receptor gene in a family with generalized thyroid hormone resistance". Mol. Endocrinol. 6 (7): 1119–26. PMID 1324420.
• Falcone M, Miyamoto T, Fierro-Renoy F; et al. (1992). "Antipeptide polyclonal antibodies specifically recognize each human thyroid hormone receptor isoform". Endocrinology. 131 (5): 2419–29. PMID 1425440.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Schmidt ED, Schmidt ED, van der Gaag R; et al. (1992). "Distribution of the nuclear thyroid-hormone receptor in extraocular and skeletal muscles". J. Endocrinol. 133 (1): 67–74. PMID 1517709.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Adams M, Nagaya T, Tone Y; et al. (1992). "Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome". Clin. Endocrinol. (Oxf). 36 (3): 281–9. PMID 1563081.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sasaki S, Nakamura H, Tagami T; et al. (1992). "A point mutation of the T3 receptor beta 1 gene in a kindred of generalized resistance to thyroid hormone". Mol. Cell. Endocrinol. 84 (3): 159–66. PMID 1587388.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nagaya T, Madison LD, Jameson JL (1992). "Thyroid hormone receptor mutants that cause resistance to thyroid hormone. Evidence for receptor competition for DNA sequences in target genes". J. Biol. Chem. 267 (18): 13014–9. PMID 1618799.CS1 maint: Multiple names: authors list (link)
• Shuto Y, Wakabayashi I, Amuro N; et al. (1992). "A point mutation in the 3,5,3'-triiodothyronine-binding domain of thyroid hormone receptor-beta associated with a family with generalized resistance to thyroid hormone". J. Clin. Endocrinol. Metab. 75 (1): 213–7. PMID 1619012.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Näär AM, Boutin JM, Lipkin SM; et al. (1991). "The orientation and spacing of core DNA-binding motifs dictate selective transcriptional responses to three nuclear receptors". Cell. 65 (7): 1267–79. PMID 1648451.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Usala SJ, Menke JB, Watson TL; et al. (1991). "A homozygous deletion in the c-erbA beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor". Mol. Endocrinol. 5 (3): 327–35. PMID 1653889.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bodenner DL, Mroczynski MA, Weintraub BD; et al. (1991). "A detailed functional and structural analysis of a major thyroid hormone inhibitory element in the human thyrotropin beta-subunit gene". J. Biol. Chem. 266 (32): 21666–73. PMID 1657975.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Parrilla R, Mixson AJ, McPherson JA; et al. (1992). "Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two "hot spot" regions of the ligand binding domain". J. Clin. Invest. 88 (6): 2123–30. PMID 1661299.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Usala SJ, Menke JB, Watson TL; et al. (1991). "A new point mutation in the 3,5,3'-triiodothyronine-binding domain of the c-erbA beta thyroid hormone receptor is tightly linked to generalized thyroid hormone resistance". J. Clin. Endocrinol. Metab. 72 (1): 32–8. PMID 1846005.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sakurai A, Nakai A, DeGroot LJ (1990). "Structural analysis of human thyroid hormone receptor beta gene". Mol. Cell. Endocrinol. 71 (2): 83–91. PMID 1973914.CS1 maint: Multiple names: authors list (link)
• Usala SJ, Tennyson GE, Bale AE; et al. (1990). "A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds". J. Clin. Invest. 85 (1): 93–100. PMID 2153155.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sakurai A, Takeda K, Ain K; et al. (1989). "Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta". Proc. Natl. Acad. Sci. U.S.A. 86 (22): 8977–81. PMID 2510172.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.