AGPAT2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Diabetes with additional phenotypes suggestive of a monogenic aetiology

  BIALLELIC, autosomal or pseudoautosomal

• Familial diabetes

  BIALLELIC, autosomal or pseudoautosomal

• Insulin resistance (including lipodystrophy)

  BIALLELIC, autosomal or pseudoautosomal

• Severe insulin resistance and lipodystrophy syndromes

  BIALLELIC, autosomal or pseudoautosomal

• Rare genetic inflammatory skin disorders

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Neonatal diabetes

  BIALLELIC, autosomal or pseudoautosomal

+3 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Berardinelli-Seip congenital lipodystrophy

  0.75

• congenital generalized lipodystrophy

  0.52

• lipodystrophy

  0.46

• hereditary disease

  0.19

• monogenic diabetes

  0.18

• drug allergy

  0.13

• prostate cancer

  0.11

• Familial prostate cancer

  0.11

• mandibuloacral dysplasia

  0.06

• CIDEC-related familial partial lipodystrophy

  0.06

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

Protein function (UniProt)