THRB thyroid hormone receptor beta
Gene ID: 7068, updated on 2-Nov-2024Gene type: protein coding
Also known as: TRb; GRTH; PRTH; THR1; ERBA2; NR1A2; THRB1; THRB2; TRbeta; THRbeta; TRbeta1; C-ERBA-2; THRbeta1; Thrbeta2; C-ERBA-BETA
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- Go to complete Gene record for THRB
- Go to Variation Viewer for THRB variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. GeneReviews: Not available | |
| Genome-wide association study of hematological and biochemical traits in a Japanese population. GeneReviews: Not available | |
| Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease. GeneReviews: Not available | |
| Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. GeneReviews: Not available | |
| Selective pituitary resistance to thyroid hormone | See labs |
| Seventy-five genetic loci influencing the human red blood cell. GeneReviews: Not available | |
| Thyroid hormone resistance, generalized, autosomal dominant | See labs |
| Thyroid hormone resistance, generalized, autosomal recessive | See labs |
Genomic context
- Location:
- 3p24.2
- Sequence:
- Chromosome: 3; NC_000003.12 (24117153..24495708, complement)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for THRB variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- THRB database
- Variation ViewerRelated Variants
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