GUCY2C

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Gastrointestinal epithelial barrier disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Infantile enterocolitis & monogenic inflammatory bowel disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intestinal failure or congenital diarrhoea

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Primary immunodeficiency or monogenic inflammatory bowel disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• COVID-19 research

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Meconium ileus

  0.72

• congenital diarrhea 6

  0.72

• intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency

  0.68

• Chronic diarrhea due to guanylate cyclase 2C overactivity

  0.64

• Diarrhea

  0.62

• Constipation

  0.58

• irritable bowel syndrome

  0.58

• constipation disorder

  0.50

• Chronic constipation

  0.39

• congenital sodium diarrhea

  0.38

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

Protein function (UniProt)