BAZ2A

Chr 12

bromodomain adjacent to zinc finger domain 2A

Also known as: TIP5, WALp3

NCBI Gene: 11176ENSG00000076108UniProt: Q9UIF9

Enables histone binding activity. Contributes to RNA polymerase I core promoter sequence-specific DNA binding activity. Predicted to be involved in DNA methylation-dependent constitutive heterochromatin formation; negative regulation of transcription by RNA polymerase I; and rDNA heterochromatin formation. Predicted to act upstream of or within heterochromatin formation. Located in cytosol and nuclear speck. [provided by Alliance of Genome Resources, Jul 2025]

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
12
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.15
LOEUF· LoF intol.
LOF
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
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.15LOEUF
pLI 1.000
Z-score 8.10
OE 0.08 (0.04–0.15)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
2.08Z-score
OE missense 0.82 (0.78–0.87)
874 obs / 1065.3 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.08 (0.04–0.15)
0≤0.351.4
Missense OE?0.82 (0.78–0.87)
0≤0.61.4
Synonymous OE?0.92
0≤1.21.6
LoF obs/exp: 7 / 89.9Missense obs/exp: 874 / 1065.3Syn Z: 1.24

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BAZ2A · 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