TSHR thyroid stimulating hormone receptor
Gene ID: 7253, updated on 7-Apr-2024Gene type: protein coding
Also known as: LGR3; CHNG1; hTSHR-I
- See all available tests in GTR for this gene
- Go to complete Gene record for TSHR
- Go to Variation Viewer for TSHR variants
Summary
The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies two new risk loci for Graves' disease. GeneReviews: Not available | |
| A genome-wide association study of serum uric acid in African Americans. GeneReviews: Not available | |
| Common variants in the trichohyalin gene are associated with straight hair in Europeans. GeneReviews: Not available | |
| Familial gestational hyperthyroidism | See labs |
| Familial hyperthyroidism due to mutations in TSH receptor | See labs |
| Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. GeneReviews: Not available | |
| Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. GeneReviews: Not available | |
| Genome-wide association study identifies three novel genetic markers associated with elite endurance performance. GeneReviews: Not available | |
| Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries. GeneReviews: Not available | |
| Hypothyroidism due to TSH receptor mutations | See labs |
Genomic context
- Location:
- 14q31.1
- Sequence:
- Chromosome: 14; NC_000014.9 (80955621..81146306)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TSHR 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
- TSH Receptor mutation database
- TSHR database
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.