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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MAGED2
MAGE family member D2
Chromosome X Β· Xp11.21
NCBI Gene: 10916Ensembl: ENSG00000102316.18HGNC: HGNC:16353UniProt: Q9UNF1
189PubMed Papers
21Diseases
0Drugs
17Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingrenal sodium ion absorptionnucleoplasmnucleolusBartter syndromeBartter syndrome with hypocalcemianeurodegenerative diseaseCerebellar atrophy
✦AI Summary

MAGED2 is an X-linked gene encoding melanoma-associated antigen D2 (MAGE-D2), a protein essential for renal salt homeostasis and fetal development. Primary function: MAGED2 regulates the expression, localization, and function of sodium chloride cotransporters NKCC2 and NCC in the distal renal tubule, which are critical for renal salt reabsorption 1. Mechanism: MAGED2 operates through adenylate cyclase and cyclic AMP (cAMP) signaling pathways 1, with PKA type II as a key downstream effector 2. Under hypoxic conditions, MAGED2 prevents excessive endocytosis of GΞ±s, maintaining AC activation and cAMP production necessary for NCC trafficking and membrane localization 3. Disease relevance: MAGED2 mutations cause X-linked transient antenatal Bartter syndrome (aBS), characterized by severe polyhydramnios, prematurity, and perinatal salt-wasting 14. Affected male infants show high perinatal mortality (32%) and clinical anomalies in 76% of cases, though surviving infants experience spontaneous symptom resolution 4. Clinical significance: Antenatal diagnosis via whole-exome sequencing enables intervention through serial amnioreductions, which significantly improve outcomes with lower gestational ages at delivery (30.71 vs 28.7 weeks) and eliminate neonatal mortality 5. Additionally, MAGED2 functions as a host antiviral factor, restricting SARS-CoV-2 replication by disrupting nucleocapsid-genome interactions until cleaved by viral protease 6.

Sources cited
1
MAGED2 mutations cause transient antenatal Bartert syndrome; MAGE-D2 affects expression and function of NKCC2 and NCC through adenylate cyclase and cAMP signaling
PMID: 27120771
2
Analysis of 54 symptomatic MAGED2-related aBS patients: 27% spontaneous resolution, 41% persistent complications, 32% fatality; 76% with clinical anomalies including renal and cardiovascular defects
PMID: 39036894
3
Serial amnioreduction improves outcomes in MAGED2-related aBS with average delivery age of 30.71 weeks versus 28.7 weeks without treatment; no mortality observed with serial amnioreduction
PMID: 38159268
4
MAGED2 and HIF-1Ξ± show reciprocal regulation under hypoxia via cAMP and PKA type II signaling
PMID: 36359819
5
MAGED2 regulates NCC trafficking and membrane localization under hypoxic conditions through cAMP signaling via GΞ±s and adenylate cyclase
PMID: 39936967
6
MAGED2 restricts SARS-CoV-2 replication by disrupting nucleocapsid-genome interaction; viral protease cleaves MAGED2 at Gln-263 to antagonize host antiviral defense
PMID: 37439567
Disease Associationsβ“˜21
Bartter syndromeOpen Targets
0.62Moderate
Bartter syndrome with hypocalcemiaOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
attention deficit hyperactivity disorderOpen Targets
0.26Weak
Cerebellar atrophyOpen Targets
0.26Weak
Dandy-Walker syndromeOpen Targets
0.26Weak
Global developmental delayOpen Targets
0.26Weak
Hypoplasia of the corpus callosumOpen Targets
0.26Weak
HypotoniaOpen Targets
0.26Weak
Atrophy/Degeneration affecting the central nervous systemOpen Targets
0.25Weak
genetic disorderOpen Targets
0.19Weak
triple-negative breast cancerOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
infectionOpen Targets
0.06Suggestive
Personality changesOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.05Suggestive
melanomaOpen Targets
0.02Suggestive
depressive disorderOpen Targets
0.02Suggestive
Bartter syndrome 5, antenatal, transientUniProt
Pathogenic Variants17
NM_177433.3(MAGED2):c.532C>T (p.Arg178Ter)Pathogenic
Renal tubulopathies
β˜…β˜†β˜†β˜†2025β†’ Residue 178
NM_177433.3(MAGED2):c.1271+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_177433.3(MAGED2):c.1347T>G (p.Tyr449Ter)Likely pathogenic
Bartter disease type 5
β˜…β˜†β˜†β˜†2025β†’ Residue 449
NM_177433.3(MAGED2):c.1452GGCTGCAGCTGA[1] (p.486AAEA[1])Likely pathogenic
Bartter disease type 5
β˜…β˜†β˜†β˜†2025
NM_177433.3(MAGED2):c.481C>T (p.Gln161Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 161
NM_177433.3(MAGED2):c.1329G>A (p.Trp443Ter)Pathogenic
Bartter disease type 5
β˜…β˜†β˜†β˜†2025β†’ Residue 443
NM_177433.3(MAGED2):c.990+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_177433.3(MAGED2):c.262C>T (p.Gln88Ter)Pathogenic
Bartter disease type 5
β˜…β˜†β˜†β˜†2023β†’ Residue 88
NM_177433.3(MAGED2):c.1336C>T (p.Arg446Cys)Likely pathogenic
Bartter disease type 5|not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 446
NM_177433.3(MAGED2):c.1085_1085+12delPathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_177433.3(MAGED2):c.1386+1G>ALikely pathogenic
Bartter disease type 5
β˜…β˜†β˜†β˜†2022
NM_177433.3(MAGED2):c.1271+4_1271+7delPathogenic
Bartter disease type 5
β˜†β˜†β˜†β˜†2023
NM_177433.3(MAGED2):c.1038C>G (p.Tyr346Ter)Pathogenic
Bartter disease type 5
β˜†β˜†β˜†β˜†2016β†’ Residue 346
NM_177433.3(MAGED2):c.386_387del (p.Val129fs)Pathogenic
Bartter disease type 5
β˜†β˜†β˜†β˜†2016β†’ Residue 129
NM_177433.3(MAGED2):c.397A>T (p.Lys133Ter)Pathogenic
Bartter disease type 5
β˜†β˜†β˜†β˜†2016β†’ Residue 133
NM_177433.3(MAGED2):c.991-2A>GPathogenic
Bartter disease type 5
β˜†β˜†β˜†β˜†2016
NM_177433.3(MAGED2):c.1003del (p.Gln335fs)Likely pathogenic
6 conditions
β˜†β˜†β˜†β˜†2016β†’ Residue 335
View on ClinVar β†—
Related Genes
NAP1L1Protein interaction85%GNASProtein interaction81%NAP1L4Protein interaction80%MAGED1Protein interaction77%CSAG1Protein interaction75%RLN1Shared pathway50%
Tissue Expression6 tissues
Ovary
100%
Heart
74%
Brain
43%
Lung
37%
Bone Marrow
21%
Liver
20%
Gene Interaction Network
Click a node to explore
MAGED2NAP1L1GNASNAP1L4MAGED1CSAG1RLN1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9UNF1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.28Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.14 [0.08–0.28]
RankingsWhere MAGED2 stands among ~20K protein-coding genes
  • #2,268of 20,598
    Most Researched189 Β· top quartile
  • #2,322of 5,498
    Most Pathogenic Variants17
  • #1,015of 17,882
    Most Constrained (LOEUF)0.28 Β· top 10%
Genes detectedMAGED2
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
PMID: 27120771
N Engl J Med Β· 2016
1.00
2
PMID: 28134709
0.90
3
X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigation.
PMID: 39036894
Genet Med Β· 2025
0.80
4
Targeting the MAGED2-TRIM28-FLNC axis overcomes chemoresistance in TNBC via EMT suppression.
PMID: 41310667
Cell Commun Signal Β· 2025
0.72
5
Successful antenatal treatment of MAGED2-related Bartter syndrome and review of treatment options and efficacy.
PMID: 38159268
Prenat Diagn Β· 2024
0.70