BCL7B

Chr 7

BAF chromatin remodeling complex subunit BCL7B

Also known as: SMARCJ2

NCBI Gene: 9275ENSG00000106635UniProt: Q9BQE9

This gene encodes a member of the BCL7 family including BCL7A, BCL7B and BCL7C proteins. This member is BCL7B, which contains a region that is highly similar to the N-terminal segment of BCL7A or BCL7C proteins. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. This gene is located at a chromosomal region commonly deleted in Williams syndrome. This gene is highly conserved from C. elegans to human. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2010]

183
ClinVar variants
160
Pathogenic / LP
0.19
pLI score
0
Active trials
Clinical Summary— BCL7B
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.28) despite low pLI — interpret in context.
📋
ClinVar Variants
160 Pathogenic / Likely Pathogenic· 20 VUS of 183 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.71LOEUF
pLI 0.185
Z-score 2.21
OE 0.28 (0.13–0.71)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.22Z-score
OE missense 0.68 (0.56–0.82)
77 obs / 113.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.28 (0.13–0.71)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.68 (0.56–0.82)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.00
0≤1.21.6
LoF obs/exp: 3 / 10.9Missense obs/exp: 77 / 113.5Syn Z: 0.01

ClinVar Variant Classifications

183 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic154
Likely Pathogenic6
VUS20
Likely Benign3
154
Pathogenic
6
Likely Pathogenic
20
VUS
3
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————154
Likely Pathogenic
————6
VUS
————20
Likely Benign
————3
Benign
————0
Total—183

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

BCL7B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
BCL7B is a potential novel diagnosis and prognosis biomarker for sarcomas using bioinformatics analysis.
Yang D et al.·Medicine (Baltimore)
2021
Genome-wide association study of early-stage non-small cell lung cancer prognosis: a pooled analysis in the International Lung Cancer Consortium.
Dong M et al.·Carcinogenesis
2025
BCL7B, a SWI/SNF complex subunit, orchestrates cancer immunity and stemness.
Higuchi S et al.·BMC Cancer
2023
The Tumor Suppressor BCL7B Functions in the Wnt Signaling Pathway.
Uehara T et al.·PLoS Genet
2015
BCL7A as a novel prognostic biomarker for glioma patients.
Liu J et al.·J Transl Med
2021Cohort
A Genome-Wide Association Study of Metabolic Syndrome in the Taiwanese Population.
Ho CY et al.·Nutrients
2023
Williams syndrome and mature B-Leukemia: A random association?
Decimi V et al.·Eur J Med Genet
2016Case report
Large multiethnic Candidate Gene Study for C-reactive protein levels: identification of a novel association at CD36 in African Americans.
Ellis J et al.·Hum Genet
2014
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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