MAGED4

Chr X

MAGE family member D4

Also known as: MAGE-D4, MAGE-E1, MAGE1

The protein may enhance ubiquitin ligase activity of RING-type E3 ubiquitin ligases and is predicted to negatively regulate transcription by RNA polymerase II in the nucleus. Currently, no established human diseases have been definitively linked to mutations in this gene. The gene shows relatively low constraint to loss-of-function variation, suggesting it may tolerate some degree of functional disruption.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.85
Clinical SummaryMAGED4
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.85LOEUF
pLI 0.324
Z-score 0.58
OE 0.00 (0.001.85)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.84Z-score
OE missense 0.36 (0.190.76)
5 obs / 13.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.001.85)
00.351.4
Missense OE0.36 (0.190.76)
00.61.4
Synonymous OE0.20
01.21.6
LoF obs/exp: 0 / 0.4Missense obs/exp: 5 / 13.8Syn Z: 1.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MAGED4 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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