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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MAGEE1
MAGE family member E1
Chromosome X · Xq13.3
NCBI Gene: 57692Ensembl: ENSG00000198934.5HGNC: HGNC:24934UniProt: Q9HCI5
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnegative regulation of transcription by RNA polymerase IInucleusplasma membranelymphatic system diseasevein disorderPalmar Fibromatosislumbar disc herniation
✦AI Summary

MAGEE1 (MAGE family member E1) is an X-linked gene encoding a protein that may enhance ubiquitin ligase activity of RING-type E3 ubiquitin-protein ligases through recruitment and stabilization of E2 conjugating enzymes [UniProt]. The protein localizes to multiple cellular compartments including the nucleus, dendrites, plasma membrane, and postsynaptic membrane, suggesting roles in both nuclear and synaptic functions [GO Annotations]. MAGEE1 is uniquely expressed in brain and ovary among normal tissues 1, with specific enrichment in glioblastoma 1. Disease relevance spans multiple pathologies: MAGEE1 was identified within a deletion segregating with autism spectrum disorder in a multiplex family 2, and a rare variant (p.Gly327Glu) was discovered in association with aldosterone-producing adenomas 3. In ovarian clear cell carcinoma, MAGEE1 mutations occur in 19-64% of cases and correlate with worse clinical outcomes; functional studies show that specific MAGEE1 mutants decrease cancer cell proliferation 4. Additionally, MAGEE1 mutations were detected in 37% of melanoma patient samples 5, and the gene was identified as a target of miR-146b-5p with potential roles in inflammatory signaling modulation 6.

Sources cited
1
MAGEE1 is located within a 1.7 Mb deletion on chromosome Xq that segregates with autism spectrum disorder in a multiplex family
PMID: 36565021
2
A rare MAGEE1 variant (p.Gly327Glu) was identified in association with aldosterone-producing adenomas at a genome-wide significant locus
PMID: 34006971
3
MAGEE1 mutations occur in 19-64% of ovarian clear cell carcinomas and correlate with worse clinical outcomes; mutant MAGEE1 decreases cancer cell proliferation
PMID: 32650224
4
MAGEE1 mutations were detected in 37% of melanoma patient samples, demonstrating frequent MAGE gene family mutations in melanoma
PMID: 20862285
5
MAGEE1 is specifically expressed in glioblastoma with 2.6-15-fold enrichment; expressed only in brain and ovary among normal tissues; has three alternatively spliced variants with distinct functions
PMID: 11406556
6
MAGEE1 is a novel target of miR-146b-5p, an IL-6-inducible microRNA involved in modulating inflammatory signaling
PMID: 30145833
Disease Associationsⓘ20
lymphatic system diseaseOpen Targets
0.15Weak
vein disorderOpen Targets
0.14Weak
lumbar disc herniationOpen Targets
0.07Suggestive
Palmar FibromatosisOpen Targets
0.07Suggestive
glioblastomaOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
ependymomaOpen Targets
0.02Suggestive
strokeOpen Targets
0.02Suggestive
astrocytomaOpen Targets
0.01Suggestive
oligodendrogliomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
gliomaOpen Targets
0.01Suggestive
ataxia telangiectasiaOpen Targets
0.01Suggestive
inherited lipid metabolism disorderOpen Targets
0.01Suggestive
autismOpen Targets
0.01Suggestive
cervical cancerOpen Targets
0.01Suggestive
COVID-19Open Targets
0.01Suggestive
secondary progressive multiple sclerosisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EID2BProtein interaction71%DTNAProtein interaction70%SNTA1Protein interaction70%
Tissue Expression6 tissues
Brain
100%
Heart
15%
Ovary
14%
Bone Marrow
5%
Lung
3%
Liver
2%
Gene Interaction Network
Click a node to explore
MAGEE1EID2BDTNASNTA1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9HCI5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.65LoF Tolerant
pLIⓘ
0.84Intermediate
Observed/Expected LoF0.25 [0.11–0.65]
RankingsWhere MAGEE1 stands among ~20K protein-coding genes
  • #13,950of 20,598
    Most Researched21
  • #4,647of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedMAGEE1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ZDHHC15 as a candidate gene for autism spectrum disorder.
PMID: 36565021
Am J Med Genet A · 2023
1.00
2
X-chromosome variants are associated with aldosterone producing adenomas.
PMID: 34006971
Sci Rep · 2021
0.90
3
Genomic characterization of Chinese ovarian clear cell carcinoma identifies driver genes by whole exome sequencing.
PMID: 32650224
Neoplasia · 2020
0.80
4
Frequent MAGE mutations in human melanoma.
PMID: 20862285
PLoS One · 2010
0.70
5
Cytokine-mediated modulation of the hepatic miRNome: miR-146b-5p is an IL-6-inducible miRNA with multiple targets.
PMID: 30145833
J Leukoc Biol · 2018
0.60