THRA thyroid hormone receptor alpha
Gene ID: 7067, updated on 11-Apr-2024Gene type: protein coding
Also known as: AR7; EAR7; ERBA; CHNG6; ERBA1; NR1A1; THRA1; THRA2; c-erbA; ERB-T-1; TRalpha; THRalpha; TRalpha1; TRalpha2; c-ERBA-1; THRalpha1; THRalpha2
- See all available tests in GTR for this gene
- Go to complete Gene record for THRA
- Go to Variation Viewer for THRA 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. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Congenital nongoitrous hypothryoidism 6 | See labs |
| Multiple loci are associated with white blood cell phenotypes. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2013-08-22) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2013-08-22) ClinGen Genome Curation Page |
Genomic context
- Location:
- 17q21.1
- Sequence:
- Chromosome: 17; NC_000017.11 (40062193..40093867)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for THRA 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
- Variation ViewerRelated Variants
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