MAGED2 (Melanoma-associated antigen D2) variants and mutations

MAGED2 (also known as Melanoma-associated antigen D2) is a human protein-coding gene encoding a melanoma-associated antigen D2 protein. It regulates membrane-protein trafficking in renal tubule cells and helps maintain expression of salt-transport proteins during fetal kidney development. Hemizygous loss-of-function variants cause transient antenatal Bartter syndrome, which often improves substantially after birth. This analysis covers 861 MAGED2 variants and mutations. Of these, 70% have computational variant effect predictions. Disease context includes Bartter syndrome, Bartter syndrome with hypocalcemia, and neurodegenerative disease. Example MAGED2 variants include S2C, S2F, and D3D.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable MAGED2 variants

Examples include S2C, S2F, D3D, T4R, S5N, S5S, S5R, S7G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.