Location [1]
Hormone signaling
Protein [2]
Thyrotropin receptor
Synonyms [1]

Thyroid stimulating hormone receptor (TSHR) is a gene that encodes a membrane protein that controls thyroid cell metabolism. The protein functions as a receptor for thyrothropin and thyrostimulin. Missense mutations, nonsense mutations, silent mutations, frameshift deletions, and in-frame deletions are observed in cancers such as intestinal cancer, skin cancer, and thyroid cancer.

TSHR is altered in 1.44% of all cancers with lung adenocarcinoma, colon adenocarcinoma, cutaneous melanoma, endometrial endometrioid adenocarcinoma, and melanoma having the greatest prevalence of alterations [3].

TSHR GENIE Cases - Top Diseases

The most common alterations in TSHR are TSHR Mutation (1.32%), TSHR Loss (0.09%), TSHR Amplification (0.05%), TSHR R109W (0.02%), and TSHR S508L (0.02%) [3].

TSHR GENIE Cases - Top Alterations


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.