MAGEB18

Chr X

MAGE family member B18

NCBI Gene: 286514 ENSG00000176774 UniProt: Q96M61 OMIM: 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.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 1.85

Clinical Summary— MAGEB18

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

26 VUS of 31 total submissions

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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 OE?1.13 (0.60–1.85)

0≤0.351.4

Missense OE?0.80 (0.68–0.94)

0≤0.61.4

Synonymous OE?0.79

0≤1.21.6

LoF obs/exp: 6 / 5.3Missense obs/exp: 102 / 128.1Syn Z: 1.16

ClinVar Variant Classifications

31 submitted variants in ClinVar

ClinVar

Classification Summary

VUS26

Likely Benign5

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	26	0	26
Likely Benign	4	1	5
Benign	0	0	0
Total	30	1	31

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

66 pathogenic / likely-pathogenic (of 69) ClinVar copy-number / structural variants overlap MAGEB18 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →