STXBP2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bleeding and platelet disorders

  BIALLELIC, autosomal or pseudoautosomal

• COVID-19 research

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Gastrointestinal epithelial barrier disorders

  BIALLELIC, autosomal or pseudoautosomal

• Infantile enterocolitis & monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Inherited bleeding disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intestinal failure or congenital diarrhoea

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Haematological malignancies cancer susceptibility

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Familial hemophagocytic lymphohistiocytosis

  0.82

• autoinflammatory syndrome

  0.47

• hereditary hemophagocytic lymphohistiocytosis

  0.37

• hereditary disease

  0.34

• Thrombocytopenia

  0.15

• Abnormal bleeding

  0.15

• neuropathic pain

  0.10

• Congenital pulmonary alveolar proteinosis

  0.07

• primary ciliary dyskinesia

  0.06

• bronchiolitis obliterans syndrome

  0.05

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

Protein function (UniProt)