- Pathway & Structure
- Disease States
- Assay Kits & Services
- Human Isoforms
- Drug Information
- Additional Information
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.
There are 143 articles specifically referring to this gene in PubMed. Functionally, the gene has been tested for association to diseases (Adenocarcinoma; Adenoma; Breast Neoplasms; Carcinoma, Papillary; Carcinoma, Small Cell; Cell Transformation, Neoplastic; Cholesterol, HDL/blood*; Chromosome Deletion; Colorectal Neoplasms; Growth Disorders and 11 others), proposed to participate in pathways (Map Kinase Inactivation of SMRT Corepressor, Neuroactive ligand-receptor interaction) and a process (regulation of transcription, DNA-dependent). Proteins are expected to have molecular functions (metal ion binding, sequence-specific DNA binding, steroid hormone receptor activity, thyroid hormone receptor activity and 2 others) and to localize in nucleus. Putative protein interactors have been described (ACVR1, ANP32A, BRD8, BTG1, C1D, CAMK2B, CCND1, CNOT1, COPS2, CTCF and 39 others).
- Cardiovascular Diseases
- Infertility, Female
- Metabolic Syndrome X
- Thyroid Diseases
- Thyroid Hormone Resistance Syndrome
- Tobacco Use Disorder
- Cleft Lip
- Cleft Palate
- Diabetes Complications
- Diabetes Mellitus, Type 2
- Abortion, Habitual
- Alzheimer Disease
Assay Kits and Services are available from INDIGO Biosciences.
Kits are offered in different assay formats to accommodate researchers’ needs: 3x 32, 1x 96, and 1x 384 assay formats for screening small numbers of test compounds, as well as custom bulk reagents for HTS applications. Assay systems are all inclusive, providing reporter cells, optimized growth media, media for diluting test compounds, a positive-control agonist, luciferase detection reagent, a white assay plate, a detailed protocol, and a protocol quick guide. All kits are shipped on dry ice.
TRβ Reporter Cells are prepared using INDIGO’s proprietary CryoMite™ process. This cryo-preservation method yields high cell viability post-thaw, and provides the convenience of immediately dispensing healthy, division-competent reporter cells into assay plates. There is no need for intermediate spin-and-wash steps, viability determinations, or cell titer adjustments.
The principle application of this assay product is in the screening of test samples to quantify functional activities, either agonist or antagonist, that they may exert against the human thyroid hormone receptor. This kit product is an all-inclusive assay system that includes, in addition to TRβ Reporter Cells, two optimized media for use during cell culture and (optionally) in diluting the test samples, a reference agonist, Luciferase Detection Reagent, a cell culture-ready assay plate, and a detailed protocol.
“avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2;” ERBA-BETA; “generalized resistance to thyroid hormone;” GRTH; NR1A2; “oncogene ERBA2;” THR1; THRB1; THRB2; “thyroid hormone receptor beta 1”
The gene contains 22 distinct gt-ag introns. Transcription produces 11 alternatively spliced mRNAs. There are 4 probable alternative promotors, 2 non overlapping alternative last exons and 3 validated alternative polyadenylation sites (see the diagram). The mRNAs appear to differ by truncation of the 5′ end, truncation of the 3′ end, presence or absence of 7 cassette exons, overlapping exons with different boundaries. 208 bp of this gene are antisense to spliced gene NR1D2, raising the possibility of regulated alternate expression. Efficacy of translation may be reduced by the presence of a shorter translated product (uORF) initiating at an AUG upstream of the main open reading frame (in variant cAug10, dAug10).
NCOR1, NCOR2, RXRA, NCOA1, NCOA2, RXRB, NCOA6, Rxr, ncor, NCOA3, MED1 (includes EG:19014), COPS2, PPARGC1A, NRIP1, HR
- 3,5-diiodothyropropionic acid