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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MAGED1
MAGE family member D1
Chromosome X · Xp11.22
NCBI Gene: 9500Ensembl: ENSG00000179222.19HGNC: HGNC:6813UniProt: Q9Y5V3
179PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of epithelial cell proliferationprotein bindingprotein-containing complexidentical protein bindingRomano-Ward syndromeFamilial progressive cardiac conduction defectesophageal squamous cell carcinomaFamilial short QT syndrome
✦AI Summary

MAGED1 (melanoma-associated antigen D1) is a type II MAGE family protein that functions as a multifaceted regulator of neuronal development, apoptosis, and transcriptional processes 1. The protein plays critical roles in the central nervous system, regulating apoptotic responses and synaptic transmission through interactions with transcription factors like CREB 2. MAGED1 acts as a selective regulator of specific bHLH PAS transcription factors including SIM1, SIM2, NPAS4, and ARNT2, enhancing their function through cytoplasmic interactions prior to nuclear import 3. In epigenetic regulation, MAGED1 partners with USP7 to control H2A monoubiquitination in the paraventricular thalamus, influencing cocaine-adaptive behaviors and transcriptional repression 4. The protein demonstrates tumor suppressor properties, with downregulation observed in various cancers including colorectal carcinoma, where reduced expression correlates with advanced disease stage and poor prognosis 5. MAGED1 deficiency results in neurocognitive deficits, impaired learning and memory formation, and altered synaptic plasticity 2. Interestingly, MAGED1 loss provides neuroprotection in Parkinson's disease models by upregulating Akt signaling and enhancing autophagy 6. Clinical relevance includes association with X-linked intellectual disability syndromes when deleted alongside neighboring genes 7.

Sources cited
1
MAGED1 is a type II MAGE family protein involved in neuronal apoptosis and anti-tumorigenesis
PMID: 21612333
2
MAGED1 regulates learning, memory, and synaptic transmission through CREB interactions
PMID: 24700102
3
MAGED1 selectively regulates specific bHLH PAS transcription factors through cytoplasmic interactions
PMID: 27472814
4
MAGED1 partners with USP7 to control H2A monoubiquitination and cocaine-related behaviors
PMID: 38123574
5
MAGED1 downregulation in colorectal cancer correlates with disease progression and poor prognosis
PMID: 22935435
6
MAGED1 deficiency provides neuroprotection in Parkinson's disease through Akt signaling and autophagy enhancement
PMID: 36774489
7
MAGED1 deletions are associated with X-linked intellectual disability syndrome
PMID: 28414775
Disease Associationsⓘ20
Romano-Ward syndromeOpen Targets
0.08Suggestive
Familial progressive cardiac conduction defectOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
Familial short QT syndromeOpen Targets
0.08Suggestive
familial atrial fibrillationOpen Targets
0.08Suggestive
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
Brugada syndromeOpen Targets
0.07Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.07Suggestive
hypertrophic cardiomyopathyOpen Targets
0.07Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.07Suggestive
colorectal cancerOpen Targets
0.07Suggestive
atrial fibrillationOpen Targets
0.07Suggestive
cancerOpen Targets
0.07Suggestive
sinoatrial node dysfunction and deafnessOpen Targets
0.07Suggestive
Idiopathic ventricular fibrillation, not Brugada typeOpen Targets
0.06Suggestive
long QT syndrome 9Open Targets
0.06Suggestive
Wolff-Parkinson-White SyndromeOpen Targets
0.06Suggestive
sudden cardiac arrestOpen Targets
0.06Suggestive
long QT syndrome 5Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NGFProtein interaction100%UBXN1Protein interaction100%PJA1Protein interaction100%FAF2Protein interaction99%BEX3Protein interaction99%NGFRProtein interaction98%
Tissue Expression6 tissues
Brain
100%
Heart
80%
Liver
63%
Ovary
62%
Lung
36%
Bone Marrow
29%
Gene Interaction Network
Click a node to explore
MAGED1NGFUBXN1PJA1FAF2BEX3NGFR
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y5V3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.14Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.06 [0.03–0.14]
RankingsWhere MAGED1 stands among ~20K protein-coding genes
  • #2,437of 20,598
    Most Researched179 · top quartile
  • #179of 17,882
    Most Constrained (LOEUF)0.14 · top 5%
Genes detectedMAGED1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
USP7/Maged1-mediated H2A monoubiquitination in the paraventricular thalamus: an epigenetic mechanism involved in cocaine use disorder.
PMID: 38123574
Nat Commun · 2023
1.00
2
MAGED1: molecular insights and clinical implications.
PMID: 21612333
Ann Med · 2011
0.90
3
Machine learning-based characterization of PANoptosis-related biomarkers and immune infiltration in ulcerative colitis: A comprehensive bioinformatics analysis and experimental validation.
PMID: 39986196
Int Immunopharmacol · 2025
0.80
4
The deficiency of Maged1 attenuates Parkinson's disease progression in mice.
PMID: 36774489
Mol Brain · 2023
0.70
5
Complex roles of NRAGE on tumor.
PMID: 27209410
Tumour Biol · 2016
0.60