Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | TSHR |
| Gene Name: | TSHR |
| Protein Full Name: | Thyrotropin receptor |
| Alias: | hTSHR-I; LGR3; thyroid stimulating hormone receptor; thyroid stimulating hormone receptor, isoform 2; thyroid-stimulating hormone receptor; thyrotropin receptor; thyrotropin receptor-I; thyrotropin receptor-I, hTSHR-I; TSH-R |
| Mass (Da): | 86830 |
| Number AA: | 764 |
| UniProt ID: | P16473 |
| Locus ID: | 7253 |
| COSMIC ID: | TSHR |
| Gene location on chromosome: | 14q31.1 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | INHIBITS ? |
| Number of cancer specimens: | 21459 |
| Percent of cancer specimens with mutations: | 2.45 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations and 3 deletions, but there is one main cluster that includes 2 of these deletions. |
| Commonly recorded point mutations: | T632I (44); M453T (34); A623V (19) |
| Normal role description: | Receptor for thyrotropin and regulation of thyroid metabolism. Defects in TSHR are a cause of thyroid neoplasms (papillary and follicular cancers). |
| Commentary on involvement of protein in cancer: | T632 I in HTNA; gain of function; found in thyroid toxic nodules and hyperfunctioning thyroid adenomas. T632 is located in a transmembrane domain region (Helical 6). M453T in HTNA; sporadic; found in toxic thyroid nodules and hyperfunctioning thyroid adenomas. M453 is located in a transmembrane domain region (Helical 2). A623 in hyperthyroidism and TTNs; associated with hyperfunctioning thyroid adenomas; gain of function. A623 is found within a cytoplasmic region. |