Thyroid hormone receptor beta: Difference between revisions

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{{Infobox_gene}}
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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.<ref name="entrezA">{{cite web | title = Entrez Gene: THRA thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7067| accessdate = }}</ref><ref name="pmid1973914">{{cite journal | vauthors = Sakurai A, Nakai A, DeGroot LJ | title = Structural analysis of human thyroid hormone receptor beta gene | journal = Mol. Cell. Endocrinol. | volume = 71 | issue = 2 | pages = 83–91  | date = June 1990 | pmid = 1973914 | doi = 10.1016/0303-7207(90)90245-4 }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image = PBB_Protein_THRB_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1bsx.
| PDB = {{PDB2|1bsx}}, {{PDB2|1n46}}, {{PDB2|1nax}}, {{PDB2|1nq0}}, {{PDB2|1nq1}}, {{PDB2|1nq2}}, {{PDB2|1nuo}}, {{PDB2|1q4x}}, {{PDB2|1r6g}}, {{PDB2|1xzx}}, {{PDB2|1y0x}}, {{PDB2|2h6w}}, {{PDB2|2nll}}
| Name = Thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)
| HGNCid = 11799
| Symbol = THRB
| AltSymbols =; ERBA-BETA; ERBA2; GRTH; MGC126109; MGC126110; NR1A2; THR1; THRB1; THRB2
| OMIM = 190160
| ECnumber = 
| Homologene = 36025
| MGIid = 98743
| GeneAtlas_image1 = PBB_GE_THRB_207044_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0003707 |text = steroid hormone receptor activity}} {{GNF_GO|id=GO:0003714 |text = transcription corepressor activity}} {{GNF_GO|id=GO:0004887 |text = thyroid hormone receptor activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0007605 |text = sensory perception of sound}} {{GNF_GO|id=GO:0008016 |text = regulation of heart contraction}} {{GNF_GO|id=GO:0009887 |text = organ morphogenesis}} {{GNF_GO|id=GO:0016481 |text = negative regulation of transcription}} {{GNF_GO|id=GO:0045944 |text = positive regulation of transcription from RNA polymerase II promoter}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 7068
    | Hs_Ensembl = ENSG00000151090
    | Hs_RefseqProtein = NP_000452
    | Hs_RefseqmRNA = NM_000461
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 3
    | Hs_GenLoc_start = 24134709
    | Hs_GenLoc_end = 24511317
    | Hs_Uniprot = P10828
    | Mm_EntrezGene = 21834
    | Mm_Ensembl = ENSMUSG00000021779
    | Mm_RefseqmRNA = NM_009380
    | Mm_RefseqProtein = NP_033406
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 14
    | Mm_GenLoc_start = 16756327
    | Mm_GenLoc_end = 16827040
    | Mm_Uniprot = Q0VDR8
  }}
}}
'''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 {{gene|THRB}} gene.<ref name="entrez">{{cite web | title = Entrez Gene: THRA thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7067| accessdate = }}</ref>


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. [[Gene knockout|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 (T<sub>3</sub>-T<sub>4</sub>), with normal or slightly elevated [[thyroid stimulating hormone]] (TSH). Several transcript [[alternative splicing|variants]] have been observed for this gene, but the full-length nature of only one has been observed so far.<ref name="entrez">{{cite web | title = Entrez Gene: THRB thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7068| accessdate = }}</ref>
The protein encoded by this gene is a nuclear hormone receptor for [[triiodothyronine]]. It is one of the several [[thyroid hormone receptor|receptors]] for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. [[Gene knockout|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 (T<sub>3</sub>-T<sub>4</sub>), with normal or slightly elevated [[thyroid stimulating hormone]] (TSH). Several transcript [[alternative splicing|variants]] have been observed for this gene, but the full-length nature of only one has been observed so far.<ref name="entrezB">{{cite web | title = Entrez Gene: THRB thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7068| accessdate = }}</ref>


== Interactions ==


==References==
Thyroid hormone receptor beta has been shown to [[Protein-protein interaction|interact]] with:
{{reflist|2}}
{{div col|colwidth=15em}}
==Further reading==
* [[BRD8]],<ref name="pmid9368056">{{cite journal | vauthors = Monden T, Wondisford FE, Hollenberg AN | title = Isolation and characterization of a novel ligand-dependent thyroid hormone receptor-coactivating protein | journal = J. Biol. Chem. | volume = 272 | issue = 47 | pages = 29834–41  | date = November 1997 | pmid = 9368056 | doi = 10.1074/jbc.272.47.29834 }}</ref>
* [[Cyclin D1|CCND1]],<ref name="pmid12048199">{{cite journal | vauthors = Lin HM, Zhao L, Cheng SY | title = Cyclin D1 Is a Ligand-independent Co-repressor for Thyroid Hormone Receptors | journal = J. Biol. Chem. | volume = 277 | issue = 32 | pages = 28733–41  | date = August 2002 | pmid = 12048199 | doi = 10.1074/jbc.M203380200 }}</ref>
* [[Nuclear receptor coactivator 1|NCOA1]],<ref name="pmid9751500">{{cite journal | vauthors = Liu Y, Takeshita A, Misiti S, Chin WW, Yen PM | title = Lack of coactivator interaction can be a mechanism for dominant negative activity by mutant thyroid hormone receptors | journal = Endocrinology | volume = 139 | issue = 10 | pages = 4197–204  | date = October 1998 | pmid = 9751500 | doi = 10.1210/endo.139.10.6218 }}</ref><ref name="pmid9171239">{{cite journal | vauthors = Jeyakumar M, Tanen MR, Bagchi MK | title = Analysis of the functional role of steroid receptor coactivator-1 in ligand-induced transactivation by thyroid hormone receptor | journal = Mol. Endocrinol. | volume = 11 | issue = 6 | pages = 755–67  | date = June 1997 | pmid = 9171239 | doi = 10.1210/mend.11.6.0003 }}</ref>
* [[NCOA6]],<ref name="pmid11158331">{{cite journal | vauthors = Lee SK, Jung SY, Kim YS, Na SY, Lee YC, Lee JW | title = Two distinct nuclear receptor-interaction domains and CREB-binding protein-dependent transactivation function of activating signal cointegrator-2 | journal = Mol. Endocrinol. | volume = 15 | issue = 2 | pages = 241–54  | date = February 2001 | pmid = 11158331 | doi = 10.1210/me.15.2.241 }}</ref><ref name="pmid10567404">{{cite journal | vauthors = Lee SK, Anzick SL, Choi JE, Bubendorf L, Guan XY, Jung YK, Kallioniemi OP, Kononen J, Trent JM, Azorsa D, Jhun BH, Cheong JH, Lee YC, Meltzer PS, Lee JW | title = A nuclear factor, ASC-2, as a cancer-amplified transcriptional coactivator essential for ligand-dependent transactivation by nuclear receptors in vivo | journal = J. Biol. Chem. | volume = 274 | issue = 48 | pages = 34283–93  | date = November 1999 | pmid = 10567404 | doi = 10.1074/jbc.274.48.34283 }}</ref><ref name="pmid10823961">{{cite journal | vauthors = Ko L, Cardona GR, Chin WW | title = Thyroid hormone receptor-binding protein, an LXXLL motif-containing protein, functions as a general coactivator | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 97 | issue = 11 | pages = 6212–7  | date = May 2000 | pmid = 10823961 | pmc = 18584 | doi = 10.1073/pnas.97.11.6212 }}</ref><ref name="pmid11773444">{{cite journal | vauthors = Ko L, Cardona GR, Iwasaki T, Bramlett KS, Burris TP, Chin WW | title = Ser-884 adjacent to the LXXLL motif of coactivator TRBP defines selectivity for ERs and TRs | journal = Mol. Endocrinol. | volume = 16 | issue = 1 | pages = 128–40  | date = January 2002 | pmid = 11773444 | doi = 10.1210/mend.16.1.0755 }}</ref>
* [[Nuclear receptor co-repressor 2|NCOR2]],<ref name=pmid9751500/><ref name="pmid9878542">{{cite journal | vauthors = Tagami T, Lutz WH, Kumar R, Jameson JL | title = The interaction of the vitamin D receptor with nuclear receptor corepressors and coactivators | journal = Biochem. Biophys. Res. Commun. | volume = 253 | issue = 2 | pages = 358–63  | date = December 1998 | pmid = 9878542 | doi = 10.1006/bbrc.1998.9799 }}</ref><ref name="pmid11518802">{{cite journal | vauthors = Ando S, Sarlis NJ, Krishnan J, Feng X, Refetoff S, Zhang MQ, Oldfield EH, Yen PM | title = Aberrant alternative splicing of thyroid hormone receptor in a TSH-secreting pituitary tumor is a mechanism for hormone resistance | journal = Mol. Endocrinol. | volume = 15 | issue = 9 | pages = 1529–38  | date = September 2001 | pmid = 11518802 | doi = 10.1210/me.15.9.1529 }}</ref>
* [[V-erbA-related gene|NR2F6]],<ref name="pmid10713182">{{cite journal | vauthors = Zhu XG, Park KS, Kaneshige M, Bhat MK, Zhu Q, Mariash CN, McPhie P, Cheng SY | title = The orphan nuclear receptor Ear-2 is a negative coregulator for thyroid hormone nuclear receptor function | journal = Mol. Cell. Biol. | volume = 20 | issue = 7 | pages = 2604–18  | date = April 2000 | pmid = 10713182 | pmc = 85476 | doi = 10.1128/MCB.20.7.2604-2618.2000 }}</ref>
* [[PPARGC1A]],<ref name="pmid11751919">{{cite journal | vauthors = Wu Y, Delerive P, Chin WW, Burris TP | title = Requirement of helix 1 and the AF-2 domain of the thyroid hormone receptor for coactivation by PGC-1 | journal = J. Biol. Chem. | volume = 277 | issue = 11 | pages = 8898–905  | date = March 2002 | pmid = 11751919 | doi = 10.1074/jbc.M110761200 }}</ref> and
* [[Retinoid X receptor alpha|RXRA]].<ref name=pmid9368056/><ref name=pmid9171239/>
{{Div col end}}
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Lazar MA, Chin WW | title = Nuclear thyroid hormone receptors | journal = J. Clin. Invest. | volume = 86 | issue = 6 | pages = 1777–82 | year = 1990 | pmid = 2254444 | pmc = 329808 | doi = 10.1172/JCI114906 }}
| citations =
* {{cite journal | vauthors = Forrest D, Reh TA, Rüsch A | title = Neurodevelopmental control by thyroid hormone receptors | journal = Curr. Opin. Neurobiol. | volume = 12 | issue = 1 | pages = 49–56 | year = 2002 | pmid = 11861164 | doi = 10.1016/S0959-4388(02)00289-1 }}
*{{cite journal | author=Lazar MA, Chin WW |title=Nuclear thyroid hormone receptors. |journal=J. Clin. Invest. |volume=86 |issue= 6 |pages= 1777-82 |year= 1991 |pmid= 2254444 |doi= }}
* {{cite journal | vauthors = González-Sancho JM, García V, Bonilla F, Muñoz A | title = Thyroid hormone receptors/THR genes in human cancer | journal = Cancer Lett. | volume = 192 | issue = 2 | pages = 121–32 | year = 2003 | pmid = 12668276 | doi = 10.1016/S0304-3835(02)00614-6 }}
*{{cite journal | author=Forrest D, Reh TA, Rüsch A |title=Neurodevelopmental control by thyroid hormone receptors. |journal=Curr. Opin. Neurobiol. |volume=12 |issue= 1 |pages= 49-56 |year= 2002 |pmid= 11861164 |doi= }}
* {{cite journal | vauthors = Cugini CD, Leidy JW, Chertow BS, Bérard J, Bradley WE, Menke JB, Hao EH, Usala SJ | title = 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 | journal = J. Clin. Endocrinol. Metab. | volume = 74 | issue = 5 | pages = 1164–70 | year = 1992 | pmid = 1314846 | doi = 10.1210/jc.74.5.1164 }}
*{{cite journal | author=González-Sancho JM, García V, Bonilla F, Muñoz A |title=Thyroid hormone receptors/THR genes in human cancer. |journal=Cancer Lett. |volume=192 |issue= 2 |pages= 121-32 |year= 2003 |pmid= 12668276 |doi= }}
* {{cite journal | vauthors = Behr M, Loos U | title = 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 | journal = Mol. Endocrinol. | volume = 6 | issue = 7 | pages = 1119–26 | year = 1992 | pmid = 1324420 | doi = 10.1210/me.6.7.1119 }}
*{{cite journal | author=Cugini CD, Leidy JW, Chertow BS, ''et al.'' |title=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. |journal=J. Clin. Endocrinol. Metab. |volume=74 |issue= 5 |pages= 1164-70 |year= 1992 |pmid= 1314846 |doi= }}
* {{cite journal | vauthors = Falcone M, Miyamoto T, Fierro-Renoy F, Macchia E, DeGroot LJ | title = Antipeptide polyclonal antibodies specifically recognize each human thyroid hormone receptor isoform | journal = Endocrinology | volume = 131 | issue = 5 | pages = 2419–29 | year = 1992 | pmid = 1425440 | doi = 10.1210/en.131.5.2419 }}
*{{cite journal | author=Behr M, Loos U |title=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. |journal=Mol. Endocrinol. |volume=6 |issue= 7 |pages= 1119-26 |year= 1992 |pmid= 1324420 |doi= }}
* {{cite journal | vauthors = Schmidt ED, Schmidt ED, van der Gaag R, Ganpat R, Broersma L, de Boer PA, Moorman AF, Lamers WH, Wiersinga WM, Koornneef L | title = Distribution of the nuclear thyroid-hormone receptor in extraocular and skeletal muscles | journal = J. Endocrinol. | volume = 133 | issue = 1 | pages = 67–74 | year = 1992 | pmid = 1517709 | doi = 10.1677/joe.0.1330067 }}
*{{cite journal | author=Falcone M, Miyamoto T, Fierro-Renoy F, ''et al.'' |title=Antipeptide polyclonal antibodies specifically recognize each human thyroid hormone receptor isoform. |journal=Endocrinology |volume=131 |issue= 5 |pages= 2419-29 |year= 1992 |pmid= 1425440 |doi= }}
* {{cite journal | vauthors = Adams M, Nagaya T, Tone Y, Jameson JL, Chatterjee VK | title = Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome | journal = Clin. Endocrinol. | volume = 36 | issue = 3 | pages = 281–9 | year = 1992 | pmid = 1563081 | doi = 10.1111/j.1365-2265.1992.tb01444.x }}
*{{cite journal | author=Schmidt ED, Schmidt ED, van der Gaag R, ''et al.'' |title=Distribution of the nuclear thyroid-hormone receptor in extraocular and skeletal muscles. |journal=J. Endocrinol. |volume=133 |issue= 1 |pages= 67-74 |year= 1992 |pmid= 1517709 |doi= }}
* {{cite journal | vauthors = Sasaki S, Nakamura H, Tagami T, Miyoshi Y, Tanaka K, Imura H | title = A point mutation of the T3 receptor beta 1 gene in a kindred of generalized resistance to thyroid hormone | journal = Mol. Cell. Endocrinol. | volume = 84 | issue = 3 | pages = 159–66 | year = 1992 | pmid = 1587388 | doi = 10.1016/0303-7207(92)90026-3 }}
*{{cite journal | author=Adams M, Nagaya T, Tone Y, ''et al.'' |title=Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome. |journal=Clin. Endocrinol. (Oxf) |volume=36 |issue= 3 |pages= 281-9 |year= 1992 |pmid= 1563081 |doi= }}
* {{cite journal | vauthors = Nagaya T, Madison LD, Jameson JL | title = Thyroid hormone receptor mutants that cause resistance to thyroid hormone. Evidence for receptor competition for DNA sequences in target genes | journal = J. Biol. Chem. | volume = 267 | issue = 18 | pages = 13014–9 | year = 1992 | pmid = 1618799 | doi =  }}
*{{cite journal | author=Sasaki S, Nakamura H, Tagami T, ''et al.'' |title=A point mutation of the T3 receptor beta 1 gene in a kindred of generalized resistance to thyroid hormone. |journal=Mol. Cell. Endocrinol. |volume=84 |issue= 3 |pages= 159-66 |year= 1992 |pmid= 1587388 |doi= }}
* {{cite journal | vauthors = Shuto Y, Wakabayashi I, Amuro N, Minami S, Okazaki T | title = 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 | journal = J. Clin. Endocrinol. Metab. | volume = 75 | issue = 1 | pages = 213–7 | year = 1992 | pmid = 1619012 | doi = 10.1210/jc.75.1.213 }}
*{{cite journal | author=Nagaya T, Madison LD, Jameson JL |title=Thyroid hormone receptor mutants that cause resistance to thyroid hormone. Evidence for receptor competition for DNA sequences in target genes. |journal=J. Biol. Chem. |volume=267 |issue= 18 |pages= 13014-9 |year= 1992 |pmid= 1618799 |doi=  }}
* {{cite journal | vauthors = Näär AM, Boutin JM, Lipkin SM, Yu VC, Holloway JM, Glass CK, Rosenfeld MG | title = The orientation and spacing of core DNA-binding motifs dictate selective transcriptional responses to three nuclear receptors | journal = Cell | volume = 65 | issue = 7 | pages = 1267–79 | year = 1991 | pmid = 1648451 | doi = 10.1016/0092-8674(91)90021-P }}
*{{cite journal | author=Shuto Y, Wakabayashi I, Amuro N, ''et al.'' |title=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. |journal=J. Clin. Endocrinol. Metab. |volume=75 |issue= 1 |pages= 213-7 |year= 1992 |pmid= 1619012 |doi= }}
* {{cite journal | vauthors = Usala SJ, Menke JB, Watson TL, Wondisford FE, Weintraub BD, Bérard J, Bradley WE, Ono S, Mueller OT, Bercu BB | title = 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 | journal = Mol. Endocrinol. | volume = 5 | issue = 3 | pages = 327–35 | year = 1991 | pmid = 1653889 | doi = 10.1210/mend-5-3-327 }}
*{{cite journal | author=Näär AM, Boutin JM, Lipkin SM, ''et al.'' |title=The orientation and spacing of core DNA-binding motifs dictate selective transcriptional responses to three nuclear receptors. |journal=Cell |volume=65 |issue= 7 |pages= 1267-79 |year= 1991 |pmid= 1648451 |doi= }}
* {{cite journal | vauthors = Bodenner DL, Mroczynski MA, Weintraub BD, Radovick S, Wondisford FE | title = A detailed functional and structural analysis of a major thyroid hormone inhibitory element in the human thyrotropin beta-subunit gene | journal = J. Biol. Chem. | volume = 266 | issue = 32 | pages = 21666–73 | year = 1991 | pmid = 1657975 | doi =  }}
*{{cite journal | author=Usala SJ, Menke JB, Watson TL, ''et al.'' |title=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. |journal=Mol. Endocrinol. |volume=5 |issue= 3 |pages= 327-35 |year= 1991 |pmid= 1653889 |doi= }}
* {{cite journal | vauthors = Parrilla R, Mixson AJ, McPherson JA, McClaskey JH, Weintraub BD | title = 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 | journal = J. Clin. Invest. | volume = 88 | issue = 6 | pages = 2123–30 | year = 1991 | pmid = 1661299 | pmc = 295818 | doi = 10.1172/JCI115542 }}
*{{cite journal | author=Bodenner DL, Mroczynski MA, Weintraub BD, ''et al.'' |title=A detailed functional and structural analysis of a major thyroid hormone inhibitory element in the human thyrotropin beta-subunit gene. |journal=J. Biol. Chem. |volume=266 |issue= 32 |pages= 21666-73 |year= 1991 |pmid= 1657975 |doi=  }}
* {{cite journal | vauthors = Usala SJ, Menke JB, Watson TL, Bérard WE, Bradley C, Bale AE, Lash RW, Weintraub BD | title = 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 | journal = J. Clin. Endocrinol. Metab. | volume = 72 | issue = 1 | pages = 32–8 | year = 1991 | pmid = 1846005 | doi = 10.1210/jcem-72-1-32 }}
*{{cite journal | author=Parrilla R, Mixson AJ, McPherson JA, ''et al.'' |title=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. |journal=J. Clin. Invest. |volume=88 |issue= 6 |pages= 2123-30 |year= 1992 |pmid= 1661299 |doi= }}
* {{cite journal | vauthors = Usala SJ, Tennyson GE, Bale AE, Lash RW, Gesundheit N, Wondisford FE, Accili D, Hauser P, Weintraub BD | title = 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 | journal = J. Clin. Invest. | volume = 85 | issue = 1 | pages = 93–100 | year = 1990 | pmid = 2153155 | pmc = 296391 | doi = 10.1172/JCI114438 }}
*{{cite journal | author=Usala SJ, Menke JB, Watson TL, ''et al.'' |title=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. |journal=J. Clin. Endocrinol. Metab. |volume=72 |issue= 1 |pages= 32-8 |year= 1991 |pmid= 1846005 |doi= }}
* {{cite journal | vauthors = Sakurai A, Takeda K, Ain K, Ceccarelli P, Nakai A, Seino S, Bell GI, Refetoff S, DeGroot LJ | title = Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 86 | issue = 22 | pages = 8977–81 | year = 1989 | pmid = 2510172 | pmc = 298414 | doi = 10.1073/pnas.86.22.8977 }}
*{{cite journal | author=Sakurai A, Nakai A, DeGroot LJ |title=Structural analysis of human thyroid hormone receptor beta gene. |journal=Mol. Cell. Endocrinol. |volume=71 |issue= 2 |pages= 83-91 |year= 1990 |pmid= 1973914 |doi= }}
*{{cite journal | author=Usala SJ, Tennyson GE, Bale AE, ''et al.'' |title=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. |journal=J. Clin. Invest. |volume=85 |issue= 1 |pages= 93-100 |year= 1990 |pmid= 2153155 |doi= }}
*{{cite journal  | author=Sakurai A, Takeda K, Ain K, ''et al.'' |title=Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=86 |issue= 22 |pages= 8977-81 |year= 1989 |pmid= 2510172 |doi=  }}
}}
{{refend}}
{{refend}}


{{NLM content}}
{{NLM content}}
{{protein-stub}}
{{PDB Gallery|geneid=7068}}
{{Transcription factors}}
{{Transcription factors|g2}}
{{Thyroid hormone receptor modulators}}
 
[[Category:Intracellular receptors]]
[[Category:Intracellular receptors]]
[[Category:Transcription factors]]
[[Category:Transcription factors]]
{{WikiDoc Sources}}

Latest revision as of 10:43, 3 July 2018

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Identifiers
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External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
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View/Edit Human

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.[1][2]

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.[3]

Interactions

Thyroid hormone receptor beta has been shown to interact with:

References

  1. ↑ "Entrez Gene: THRA thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)".
  2. ↑ Sakurai A, Nakai A, DeGroot LJ (June 1990). "Structural analysis of human thyroid hormone receptor beta gene". Mol. Cell. Endocrinol. 71 (2): 83–91. doi:10.1016/0303-7207(90)90245-4. PMID 1973914.
  3. ↑ "Entrez Gene: THRB thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)".
  4. ↑ 4.0 4.1 Monden T, Wondisford FE, Hollenberg AN (November 1997). "Isolation and characterization of a novel ligand-dependent thyroid hormone receptor-coactivating protein". J. Biol. Chem. 272 (47): 29834–41. doi:10.1074/jbc.272.47.29834. PMID 9368056.
  5. ↑ Lin HM, Zhao L, Cheng SY (August 2002). "Cyclin D1 Is a Ligand-independent Co-repressor for Thyroid Hormone Receptors". J. Biol. Chem. 277 (32): 28733–41. doi:10.1074/jbc.M203380200. PMID 12048199.
  6. ↑ 6.0 6.1 Liu Y, Takeshita A, Misiti S, Chin WW, Yen PM (October 1998). "Lack of coactivator interaction can be a mechanism for dominant negative activity by mutant thyroid hormone receptors". Endocrinology. 139 (10): 4197–204. doi:10.1210/endo.139.10.6218. PMID 9751500.
  7. ↑ 7.0 7.1 Jeyakumar M, Tanen MR, Bagchi MK (June 1997). "Analysis of the functional role of steroid receptor coactivator-1 in ligand-induced transactivation by thyroid hormone receptor". Mol. Endocrinol. 11 (6): 755–67. doi:10.1210/mend.11.6.0003. PMID 9171239.
  8. ↑ Lee SK, Jung SY, Kim YS, Na SY, Lee YC, Lee JW (February 2001). "Two distinct nuclear receptor-interaction domains and CREB-binding protein-dependent transactivation function of activating signal cointegrator-2". Mol. Endocrinol. 15 (2): 241–54. doi:10.1210/me.15.2.241. PMID 11158331.
  9. ↑ Lee SK, Anzick SL, Choi JE, Bubendorf L, Guan XY, Jung YK, Kallioniemi OP, Kononen J, Trent JM, Azorsa D, Jhun BH, Cheong JH, Lee YC, Meltzer PS, Lee JW (November 1999). "A nuclear factor, ASC-2, as a cancer-amplified transcriptional coactivator essential for ligand-dependent transactivation by nuclear receptors in vivo". J. Biol. Chem. 274 (48): 34283–93. doi:10.1074/jbc.274.48.34283. PMID 10567404.
  10. ↑ Ko L, Cardona GR, Chin WW (May 2000). "Thyroid hormone receptor-binding protein, an LXXLL motif-containing protein, functions as a general coactivator". Proc. Natl. Acad. Sci. U.S.A. 97 (11): 6212–7. doi:10.1073/pnas.97.11.6212. PMC 18584. PMID 10823961.
  11. ↑ Ko L, Cardona GR, Iwasaki T, Bramlett KS, Burris TP, Chin WW (January 2002). "Ser-884 adjacent to the LXXLL motif of coactivator TRBP defines selectivity for ERs and TRs". Mol. Endocrinol. 16 (1): 128–40. doi:10.1210/mend.16.1.0755. PMID 11773444.
  12. ↑ Tagami T, Lutz WH, Kumar R, Jameson JL (December 1998). "The interaction of the vitamin D receptor with nuclear receptor corepressors and coactivators". Biochem. Biophys. Res. Commun. 253 (2): 358–63. doi:10.1006/bbrc.1998.9799. PMID 9878542.
  13. ↑ Ando S, Sarlis NJ, Krishnan J, Feng X, Refetoff S, Zhang MQ, Oldfield EH, Yen PM (September 2001). "Aberrant alternative splicing of thyroid hormone receptor in a TSH-secreting pituitary tumor is a mechanism for hormone resistance". Mol. Endocrinol. 15 (9): 1529–38. doi:10.1210/me.15.9.1529. PMID 11518802.
  14. ↑ Zhu XG, Park KS, Kaneshige M, Bhat MK, Zhu Q, Mariash CN, McPhie P, Cheng SY (April 2000). "The orphan nuclear receptor Ear-2 is a negative coregulator for thyroid hormone nuclear receptor function". Mol. Cell. Biol. 20 (7): 2604–18. doi:10.1128/MCB.20.7.2604-2618.2000. PMC 85476. PMID 10713182.
  15. ↑ Wu Y, Delerive P, Chin WW, Burris TP (March 2002). "Requirement of helix 1 and the AF-2 domain of the thyroid hormone receptor for coactivation by PGC-1". J. Biol. Chem. 277 (11): 8898–905. doi:10.1074/jbc.M110761200. PMID 11751919.

Further reading

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

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