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GenoLensGenoLens

TG

Chr 8q24.22

thyroglobulin

Aliases:
TGN, AITD3
MANE:
ENST00000220616.9

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Congenital hypothyroidism

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Inherited non-medullary thyroid cancer

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hypothyroidism

    0.76
  • familial thyroid dyshormonogenesis

    0.71
  • Hashimoto thyroiditis

    0.70
  • thyroid gland disorder

    0.66
  • congenital hypothyroidism

    0.63
  • nodular goiter

    0.60
  • nontoxic goiter

    0.55
  • multinodular goiter

    0.54
  • toxic multinodular goitre

    0.52
  • thyroid gland carcinoma

    0.51

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

Protein function (UniProt)

Thyroglobulin

Acts as a substrate for the production of iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3) (PubMed:17532758, PubMed:32025030). The synthesis of T3 and T4 involves iodination of selected tyrosine residues of TG/thyroglobulin followed by their oxidative coupling in the thyroid follicle lumen (PubMed:32025030). Following TG re-internalization and lysosomal-mediated proteolysis, T3 and T4 are released from the polypeptide backbone leading to their secretion into the bloodstream (PubMed:32025030). One dimer produces 7 thyroid hormone molecules (PubMed:32025030)

Curated MONDO disease pages that list TG 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.