MAGOHB

Chr 12

mago homolog B, exon junction complex subunit

Also known as: MGN2, mago, magoh

NCBI Gene: 55110ENSG00000111196UniProt: Q96A72

Enables RNA binding activity. Involved in mRNA splicing, via spliceosome and nuclear-transcribed mRNA catabolic process, nonsense-mediated decay. Located in nucleus. Part of U2-type catalytic step 1 spliceosome; U2-type precatalytic spliceosome; and exon-exon junction complex. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.74
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.74LOEUF
pLI 0.327
Z-score 2.07
OE 0.24 (0.10–0.74)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.78Z-score
OE missense 0.74 (0.59–0.93)
51 obs / 69.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.24 (0.10–0.74)
0≤0.351.4
Missense OE?0.74 (0.59–0.93)
0≤0.61.4
Synonymous OE?0.88
0≤1.21.6
LoF obs/exp: 2 / 8.5Missense obs/exp: 51 / 69.2Syn Z: 0.45

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MAGOHB · 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.

Search ClinicalTrials.gov →

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