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TSHR

Chr 14q24-q31

thyroid stimulating hormone receptor

Aliases:
LGR3
MANE:
ENST00000298171.7
OMIM: 603372 ↗NCBI: 7253 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Congenital hypothyroidism

    BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

  • DDG2P

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Hyperthyroidism

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Intellectual disability

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Monogenic hearing loss

Disease associations (Open Targets)

  • hypothyroidism due to TSH receptor mutations

    0.83

  • familial hyperthyroidism due to mutations in TSH receptor

    0.82

  • hypothyroidism

    0.78

  • familial gestational hyperthyroidism

    0.72

  • thyroid gland disorder

    0.71

  • myxedema

    0.61

  • congenital hypothyroidism

    0.59

  • Graves disease

    0.51

  • hereditary disease

    0.50

  • hyperthyroidism

    0.48

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Thyrotropin receptor

Receptor for the thyroid-stimulating hormone (TSH) or thyrotropin (PubMed:11847099, PubMed:12045258). Also acts as a receptor for the heterodimeric glycoprotein hormone (GPHA2:GPHB5) or thyrostimulin (PubMed:12045258). TSHR is coupled to G(s) proteins and mediates the activation of adenylate cyclase (PubMed:11847099, PubMed:35940205, PubMed:35940204). This leads to the generation of cyclic adenosine monophosphate (cAMP), which in turn activates protein kinase A (PKA). PKA subsequently phosphorylates downstream targets involved in thyroid hormone biosynthesis and secretion, including thyroid peroxidase (TPO) and the sodium/iodide symporter (NIS) (PubMed:27638195). Additionally, plays a central role in controlling thyroid cell metabolism (By similarity)

Diseases associated with TSHR

Curated MONDO disease pages that list TSHR among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.