MAGED2

Chr Xp11.21

MAGE family member D2

Aliases:: JCL-1, BCG1, 11B6, MAGE-D2, HCA10
MANE:: ENST00000375068.6

OMIM: 300470 ↗NCBI: 10916 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MAGED2 · Q9UNF1

v62025-08-01

Predicted Aligned Error matrix for MAGED2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

58.3/ 100

Low

606 residues

Confidence breakdown

Very high(≥ 90)15%
Confident(70–90)21%
Low(50–70)12%
Very low(< 50)53%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Renal tubulopathies
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

Bartter syndrome
0.69
Bartter syndrome with hypocalcemia
0.37
neurodegenerative disease
0.37
Hypotonia
0.26
Dandy-Walker syndrome
0.26
attention deficit-hyperactivity disorder
0.26
Cerebellar atrophy
0.26
Global developmental delay
0.26
Hypoplasia of the corpus callosum
0.26
Atrophy/Degeneration affecting the central nervous system
0.24

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

Protein function (UniProt)

Melanoma-associated antigen D2

Regulates the expression, localization to the plasma membrane and function of the sodium chloride cotransporters SLC12A1 and SLC12A3, two key components of salt reabsorption in the distal renal tubule