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TBXA2R

Chr 19p13.3

thromboxane A2 receptor

MANE:
ENST00000375190.10

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Bleeding and platelet disorders

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

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

Disease associations (Open Targets)

  • bleeding diathesis due to thromboxane synthesis deficiency

    0.60
  • neurodegenerative disease

    0.51
  • Airway obstruction

    0.37
  • Recurrent thrombophlebitis

    0.37
  • Abnormal platelet aggregation

    0.30
  • thrombotic disease

    0.26
  • allergic asthma

    0.26
  • autoimmune disorder of central nervous system

    0.20
  • hereditary disease

    0.19
  • atopic asthma

    0.19

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

Protein function (UniProt)

Thromboxane A2 receptor

Receptor for thromboxane A2 (TXA2), a potent stimulator of platelet aggregation. The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system. In the kidney, the binding of TXA2 to glomerular TP receptors causes intense vasoconstriction. Activates phospholipase C

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.