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GenoLensGenoLens

TPO

Chr 2p25.3

thyroid peroxidase

Aliases:
TPX
MANE:
ENST00000329066.9

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

Disease associations (Open Targets)

  • familial thyroid dyshormonogenesis

    0.71
  • hyperthyroidism

    0.59
  • hypothyroidism

    0.58
  • congenital hypothyroidism

    0.54
  • thyroid gland disorder

    0.54
  • Hashimoto thyroiditis

    0.53
  • Abnormality of the thyroid gland

    0.53
  • nodular goiter

    0.49
  • autoimmune disease

    0.43
  • autoimmune thyroid disease

    0.43

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

Protein function (UniProt)

Thyroid peroxidase

Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4)

Curated MONDO disease pages that list TPO 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.