MAN2B2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• congenital disorder of glycosylation type 1EE with or without immunodeficiency

  0.64

• blood coagulation disease

  0.27

• malignant renal pelvis neoplasm

  0.22

• placental abruption

  0.22

• gastric cancer

  0.20

• congenital disorder of glycosylation

  0.12

• transient neonatal diabetes mellitus

  0.04

• diabetes mellitus, transient neonatal, 3

  0.04

• MODY

  0.04

• maturity-onset diabetes of the young type 13

  0.04

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

Protein function (UniProt)