BZW1

Chr 2

basic leucine zipper and W2 domains 1

Also known as: 5MP2, BZAP45, Nbla10236

NCBI Gene: 9689ENSG00000082153UniProt: Q7L1Q6OMIM: 619252

BZW1 encodes a translation initiation regulator that represses repeat-associated non-AUG translation and enhances histone H4 gene transcription. Mutations cause autosomal dominant developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, seizures, and developmental delays. The gene is highly constrained against loss-of-function variants, reflecting its essential role in cellular function.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.35
Clinical Summary— BZW1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.94). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
33 unique Pathogenic / Likely Pathogenic· 28 VUS of 76 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.35LOEUF
pLI 0.944
Z-score 3.79
OE 0.13 (0.06–0.35)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
3.03Z-score
OE missense 0.42 (0.35–0.50)
90 obs / 215.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.13 (0.06–0.35)
0≤0.351.4
Missense OE0.42 (0.35–0.50)
0≤0.61.4
Synonymous OE1.14
0≤1.21.6
LoF obs/exp: 3 / 22.3Missense obs/exp: 90 / 215.2Syn Z: -0.95

ClinVar Variant Classifications

76 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic32
Likely Pathogenic1
VUS28
Likely Benign1
32
Pathogenic
1
Likely Pathogenic
28
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
32
0
32
Likely Pathogenic
0
0
1
0
1
VUS
0
26
2
0
28
Likely Benign
0
1
0
0
1
Benign
0
0
0
0
0
Total02735062

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

View in ClinVar →

Protein Context — Lollipop Plot

BZW1 · 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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Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 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