MZB1

Chr 5

marginal zone B and B1 cell specific protein

Also known as: MEDA-7, PACAP, pERp1

NCBI Gene: 51237ENSG00000170476UniProt: Q8WU39

Involved in positive regulation of cell population proliferation. Located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
0
Pathogenic / LP
0
ClinVar variants
31
Pubs (1 yr)
0.4
Missense Z
1.49
LOEUF
Clinical Summary— MZB1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.49LOEUF
pLI 0.000
Z-score 0.60
OE 0.77 (0.42–1.49)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.41Z-score
OE missense 0.88 (0.74–1.05)
90 obs / 101.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.77 (0.42–1.49)
0≤0.351.4
Missense OE0.88 (0.74–1.05)
0≤0.61.4
Synonymous OE0.93
0≤1.21.6
LoF obs/exp: 6 / 7.8Missense obs/exp: 90 / 101.7Syn Z: 0.35
DN
DN
0.6454th %ile
GOF
0.5759th %ile
LOF
0.2580th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

MZB1 · 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 →
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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