THRB Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | THRB |
| Official Name | thyroid hormone receptor beta [Source:HGNC Symbol;Acc:HGNC:11799] |
| Ensembl ID | ENSG00000151090 |
| Bio databases IDs | |
| Aliases | thyroid hormone receptor beta, avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, oncogene ERBA2, generalized resistance to thyroid hormone, thyroid hormone receptor beta 1 |
| Synonyms | C-ERBA-2, C-ERBA-BETA, C-ERBA-β, ERBA2, GRTH, NR1A2, PRTH, RATT3REC, T3R[b], T3Rbeta, T3rec, THR1, Thrb1, THRbeta, THRbeta1, Thrbeta2, thyroid hormone receptor beta, THYROID HORMONE receptor beta2, Thyroid hormone receptor β, TRb, TRbeta, TR β |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human THRB often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
- A/B region
- transcription factor binding
- AF-2 transcription activation domain
- chromatin binding
- CoR box
- identical protein binding
- hormone binding domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- nuclear receptor ligand binding domain
- P-box
- AF-1 domain
- ligand-binding domain
- ligand-dependent nuclear receptor
- corepressor binding domain
- a/b binding pocket
- hormone binding
- dimerization domain
- amphipathic helix
- DNA binding domain
- alpha helix
- enzyme binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- T3 binding domain
- double-stranded DNA binding
- hinge domain
- thyroid hormone receptor binding domain
- Ligand-binding domain of nuclear hormone receptor
- C-terminal extension
- transcription factor activity
Pathways
Biological processes and signaling networks where the THRB gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- depressive disorder
- major depression
- metastasis
- advanced cancer
- cancer
- epithelial neoplasia
- adenoma formation
- head and neck neoplasia
- hypothyroidism
- lung cancer
role in cell
- number
- expression in
- proliferation
- growth
- quantity
- migration
- apoptosis
- transcription in
- phosphorylation in
- colony formation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- myelin enriched fraction
- nuclear fraction
- Cytoplasm
- perinuclear region
- cytosol
- basolateral membrane
- nucleoplasm
- nuclear bodies
- nuclear envelope
- chromatin
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human THRB gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mRNA transcription from RNA polymerase II promoter
- female courtship behavior
- transcription, DNA-dependent
- regulation of heart contraction
- positive regulation of transcription from RNA polymerase II promoter
- thyroid hormone mediated signaling pathway
- retinal cone cell development
- negative regulation of female receptivity
- positive regulation of thyroid hormone mediated signaling pathway
- cellular response to thyroid hormone stimulus
- negative regulation of transcription from RNA polymerase II promoter
- sensory perception of sound
- retinoic acid receptor signaling pathway
- Type I pneumocyte differentiation
- cell differentiation
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- chromatin DNA binding
- DNA binding
- zinc ion binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- thyroid hormone binding
- enzyme binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- transcription coactivator binding