BZW2

Chr 7

basic leucine zipper and W2 domains 2

Also known as: 5MP1, HSPC028, MST017, MSTP017

NCBI Gene: 28969ENSG00000136261UniProt: Q9Y6E2

Enables cadherin binding activity. Involved in regulation of translational initiation. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
38
Pathogenic / LP
90
ClinVar variants
3
Pubs (1 yr)
2.0
Missense Z
0.53
LOEUF
Clinical Summary— BZW2
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.27) despite low pLI — interpret in context.
📋
ClinVar Variants
38 Pathogenic / Likely Pathogenic· 50 VUS of 90 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.53LOEUF
pLI 0.105
Z-score 3.20
OE 0.27 (0.15–0.53)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.95Z-score
OE missense 0.63 (0.55–0.73)
143 obs / 225.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.27 (0.15–0.53)
0≤0.351.4
Missense OE0.63 (0.55–0.73)
0≤0.61.4
Synonymous OE1.17
0≤1.21.6
LoF obs/exp: 6 / 22.3Missense obs/exp: 143 / 225.5Syn Z: -1.29

ClinVar Variant Classifications

90 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic35
Likely Pathogenic3
VUS50
Likely Benign2
35
Pathogenic
3
Likely Pathogenic
50
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
35
0
35
Likely Pathogenic
0
0
3
0
3
VUS
0
39
11
0
50
Likely Benign
0
0
1
1
2
Benign
0
0
0
0
0
Total03950190

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

View in ClinVar →

BZW2 · 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
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 4 full-text resultsSearch PubTator3 ↗
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