Description: Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 3, mRNA. RefSeq Summary (NM_001142626): 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]. Transcript (Including UTRs) Position: hg19 chr14:81,421,869-81,575,294 Size: 153,426 Total Exon Count: 9 Strand: + Coding Region Position: hg19 chr14:81,422,025-81,575,025 Size: 153,001 Coding Exon Count: 9
ID:G3V2A9_HUMAN DESCRIPTION: SubName: Full=Thyrotropin receptor; CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.
autoimmune thyroid disease; thyroid disease, autoimmune Akamizu, T. et al. 2000, Association of autoimmune thyroid disease with microsatellite markers for the thyrotropin receptor gene and CTLA-4 in Japanese patients., Thyroid. 2000 Oct;10(10):851-8.
[PubMed 11081251]
These results confirm and expand on our previous study suggesting that alleles of the TSHR and CTLA-4 genes, or genes near them contribute to AITD susceptibility and set the stage for future studies of interactions between these genes and AITD.
congenital and subclinical hypothyroidism Camilot, M. et al. 2005, Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes., Clinical endocrinology. 2005 Aug;63(2):146-51.
[PubMed 16060907]
A single grossly mutated allele (such as C41S or 555-561del) invariably leads to a condition of subclinical hypothyroidism, whereas in case of heterozygous carriers of mutations partially affecting the receptor function (such as P162A or L252P), a remarkable variable expressivity was detected among individuals belonging to different generations.
congenital athyreosis Gagne N et al. 1998, Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities?, The Journal of clinical endocrinology and metabolism. 1998 May;83(5):1771-5.
[PubMed 9589691]
We conclude that different genetic and nongenetic mechanisms for athyreosis and ectopic thyroid are likely, and that these two distinct entities are themselves heterogeneous. Our results further show that inactivating mutations in TSH-R may account for some cases of apparent congenital athyreosis and should be suspected, especially if plasma thyroglobulin levels are normal.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
SCOP Domains: 52047 - RNI-like 52058 - L domain-like 52075 - Outer arm dynein light chain 1
ModBase Predicted Comparative 3D Structure on G3V2A9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
