Thyroid hormone receptor beta

THRB
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1BSX, 1N46, 1NAX, 1NQ0, 1NQ1, 1NQ2, 1NUO, 1Q4X, 1R6G, 1XZX, 1Y0X, 2J4A, 2NLL, 2PIN, 3D57, 3GWS, 3IMY, 3JZC, 4ZO1
Identifiers
Aliases	THRB, C-ERBA-2, C-ERBA-BETA, ERBA2, GRTH, NR1A2, PRTH, THR1, THRB1, THRB2, thyroid hormone receptor beta, TRbeta
External IDs	OMIM: 190160; MGI: 98743; HomoloGene: 36025; GeneCards: THRB; OMA:THRB - orthologs
Gene location (Human) Chr. Chromosome 3 (human) Band 3p24.2 Start 24,117,153 bp End 24,495,756 bp
Gene location (Mouse) Chr. Chromosome 14 (mouse) Band 14|14 A1 Start 4,431,611 bp End 4,809,435 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 23 middle temporal gyrus tibia postcentral gyrus endothelial cell superior frontal gyrus entorhinal cortex Achilles tendon lactiferous duct parotid gland Top expressed in auditory system spiral ganglion neural layer of retina organ of Corti right kidney superior frontal gyrus dentate gyrus of hippocampal formation granule cell primary visual cortex muscle of thigh proximal tubule More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sequence-specific DNA binding transcription corepressor activity zinc ion binding metal ion binding steroid hormone receptor activity protein binding enzyme binding chromatin DNA binding thyroid hormone binding DNA-binding transcription factor activity DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific transcription cis-regulatory region binding RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor binding nuclear receptor coactivator activity signaling receptor activity nuclear receptor activity Cellular component nucleoplasm nucleus nuclear body RNA polymerase II transcription regulator complex Biological process regulation of transcription, DNA-templated regulation of heart contraction female courtship behavior regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II hearing type I pneumocyte differentiation negative regulation of female receptivity animal organ morphogenesis transcription initiation from RNA polymerase II promoter negative regulation of transcription, DNA-templated positive regulation of transcription by RNA polymerase II steroid hormone mediated signaling pathway intracellular receptor signaling pathway transcription, DNA-templated negative regulation of eye photoreceptor cell development retinal cone cell development retinal cone cell apoptotic process multicellular organism development hormone-mediated signaling pathway cell differentiation thyroid gland development response to lipid thyroid hormone mediated signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7068 21834 Ensembl ENSG00000151090 ENSMUSG00000021779 UniProt P10828 P37242 RefSeq (mRNA) NM_000461 NM_001128176 NM_001128177 NM_001252634 NM_001354708 NM_001354709 NM_001354710 NM_001354711 NM_001354712 NM_001354713 NM_001354714 NM_001354715 NM_001374822 NM_001374823 NM_001374824 NM_001374825 NM_001374826 NM_001374827 NM_001113417 NM_009380 RefSeq (protein) NP_000452 NP_001121648 NP_001121649 NP_001239563 NP_001341637 NP_001341638 NP_001341639 NP_001341640 NP_001341641 NP_001341642 NP_001341643 NP_001341644 NP_001361751 NP_001361752 NP_001361753 NP_001361754 NP_001361755 NP_001361756 NP_001106888 NP_033406 Location (UCSC) Chr 3: 24.12 – 24.5 Mb Chr 14: 4.43 – 4.81 Mb PubMed search
Wikidata
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Thyroid hormone receptor beta (TR-beta) also known as nuclear receptor subfamily 1, group A, member 2 (NR1A2), is a nuclear receptor protein that in humans is encoded by the THRB gene.

Function

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.

Interactions

Thyroid hormone receptor beta has been shown to interact with:

• BRD8,
• CCND1,
• NCOA1,
• NCOA6,
• NCOR2,
• NR2F6,
• PPARGC1A, and
• RXRA.

Further reading

• Lazar MA, Chin WW (1990). "Nuclear thyroid hormone receptors". J. Clin. Invest. 86 (6): 1777–82. doi:10.1172/JCI114906. PMC 329808. PMID 2254444.
• Forrest D, Reh TA, Rüsch A (2002). "Neurodevelopmental control by thyroid hormone receptors". Curr. Opin. Neurobiol. 12 (1): 49–56. doi:10.1016/S0959-4388(02)00289-1. PMID 11861164. S2CID 2884828.
• González-Sancho JM, García V, Bonilla F, Muñoz A (2003). "Thyroid hormone receptors/THR genes in human cancer". Cancer Lett. 192 (2): 121–32. doi:10.1016/S0304-3835(02)00614-6. PMID 12668276.
• Cugini CD, Leidy JW, Chertow BS, Bérard J, Bradley WE, Menke JB, Hao EH, Usala SJ (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. doi:10.1210/jcem.74.5.1314846. PMID 1314846.
• 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. doi:10.1210/mend.6.7.1324420. PMID 1324420.
• Falcone M, Miyamoto T, Fierro-Renoy F, Macchia E, DeGroot LJ (1992). "Antipeptide polyclonal antibodies specifically recognize each human thyroid hormone receptor isoform". Endocrinology. 131 (5): 2419–29. doi:10.1210/endo.131.5.1425440. PMID 1425440.
• Schmidt ED, Schmidt ED, van der Gaag R, Ganpat R, Broersma L, de Boer PA, Moorman AF, Lamers WH, Wiersinga WM, Koornneef L (1992). "Distribution of the nuclear thyroid-hormone receptor in extraocular and skeletal muscles". J. Endocrinol. 133 (1): 67–74. doi:10.1677/joe.0.1330067. PMID 1517709.
• Adams M, Nagaya T, Tone Y, Jameson JL, Chatterjee VK (1992). "Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome". Clin. Endocrinol. 36 (3): 281–9. doi:10.1111/j.1365-2265.1992.tb01444.x. PMID 1563081. S2CID 25897422.
• Sasaki S, Nakamura H, Tagami T, Miyoshi Y, Tanaka K, Imura H (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. doi:10.1016/0303-7207(92)90026-3. PMID 1587388. S2CID 24853283.
• 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. doi:10.1016/S0021-9258(18)42375-7. PMID 1618799.
• Shuto Y, Wakabayashi I, Amuro N, Minami S, Okazaki T (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. doi:10.1210/jcem.75.1.1619012. PMID 1619012.
• Näär AM, Boutin JM, Lipkin SM, Yu VC, Holloway JM, Glass CK, Rosenfeld MG (1991). "The orientation and spacing of core DNA-binding motifs dictate selective transcriptional responses to three nuclear receptors". Cell. 65 (7): 1267–79. doi:10.1016/0092-8674(91)90021-P. PMID 1648451. S2CID 22572347.
• Usala SJ, Menke JB, Watson TL, Wondisford FE, Weintraub BD, Bérard J, Bradley WE, Ono S, Mueller OT, Bercu BB (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. doi:10.1210/mend-5-3-327. PMID 1653889.
• Bodenner DL, Mroczynski MA, Weintraub BD, Radovick S, Wondisford FE (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. doi:10.1016/S0021-9258(18)54688-3. PMID 1657975.
• Parrilla R, Mixson AJ, McPherson JA, McClaskey JH, Weintraub BD (1991). "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. doi:10.1172/JCI115542. PMC 295818. PMID 1661299.
• Usala SJ, Menke JB, Watson TL, Bérard WE, Bradley C, Bale AE, Lash RW, Weintraub BD (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. doi:10.1210/jcem-72-1-32. PMID 1846005.
• Usala SJ, Tennyson GE, Bale AE, Lash RW, Gesundheit N, Wondisford FE, Accili D, Hauser P, Weintraub BD (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. doi:10.1172/JCI114438. PMC 296391. PMID 2153155.
• Sakurai A, Takeda K, Ain K, Ceccarelli P, Nakai A, Seino S, Bell GI, Refetoff S, DeGroot LJ (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. Bibcode:1989PNAS...86.8977S. doi:10.1073/pnas.86.22.8977. PMC 298414. PMID 2510172.

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