MAGEB3

Chr X

MAGE family member B3

Also known as: CT3.5

NCBI Gene: 4114ENSG00000198798UniProt: O15480OMIM: 300152

This gene is a MAGE-B subfamily member of the MAGE gene family. MAGE family member proteins direct the expression of tumor antigens recognized on a human melanoma by autologous cytolytic T lymphocytes. There are two known clusters of MAGE genes on chromosome X. The members of the MAGE-A subfamily are located in the Xq28 region, while the members of the MAGE-B subfamily are clustered in the Xp21 region. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
LOEUF 1.61
Clinical Summary— MAGEB3
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Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.61LOEUF
pLI 0.432
Z-score 1.07
OE 0.00 (0.00–1.61)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.65Z-score
OE missense 0.84 (0.72–0.98)
108 obs / 128.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.00–1.61)
0≤0.351.4
Missense OE?0.84 (0.72–0.98)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 0 / 1.3Missense obs/exp: 108 / 128.6Syn Z: -0.07

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MAGEB3 · protein map & ClinVar variants

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

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