IL2RG

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Gastrointestinal epithelial barrier disorders

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Infantile enterocolitis & monogenic inflammatory bowel disease

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Primary immunodeficiency or monogenic inflammatory bowel disease

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• SCID with features of gamma chain deficiency

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

• T-B+ severe combined immunodeficiency due to gamma chain deficiency

  0.85

• combined immunodeficiency, X-linked

  0.74

• Omenn syndrome

  0.56

• primary cutaneous T-cell non-Hodgkin lymphoma

  0.54

• renal cell carcinoma

  0.54

• multiple sclerosis

  0.53

• kidney transplant

  0.53

• neoplasm

  0.49

• metastatic melanoma

  0.48

• immune system disorder

  0.47

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

Protein function (UniProt)