MAGEB18

Chr X

MAGE family member B18

NCBI Gene: 286514ENSG00000176774UniProt: Q96M61OMIM: 301064

The protein may enhance ubiquitin ligase activity of RING-type E3 ubiquitin-protein ligases and is predicted to negatively regulate transcription by RNA polymerase II. Currently, no established human diseases are associated with MAGEB18 mutations. The gene shows low constraint against loss-of-function variants (pLI = 0.0001, LOEUF = 1.85), suggesting it may tolerate complete loss of function.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.85
Clinical Summary— MAGEB18
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.85LOEUF
pLI 0.000
Z-score -0.28
OE 1.13 (0.60–1.85)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.82Z-score
OE missense 0.80 (0.68–0.94)
102 obs / 128.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE1.13 (0.60–1.85)
0≤0.351.4
Missense OE0.80 (0.68–0.94)
0≤0.61.4
Synonymous OE0.79
0≤1.21.6
LoF obs/exp: 6 / 5.3Missense obs/exp: 102 / 128.1Syn Z: 1.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MAGEB18 · 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

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients