BAZ2B

Chr 2

bromodomain adjacent to zinc finger domain 2B

Also known as: WALp4

NCBI Gene: 29994 ENSG00000123636 UniProt: Q9UIF8 OMIM: 605683

This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide screen, suggesting a potential role in transcriptional activation. This gene may be associated with susceptibility to sudden cardiac death (SCD). [provided by RefSeq, Aug 2016]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene–disease validity (ClinGen)

Limited · complex neurodevelopmental disorder · AD · ClinGen 2022

not for standalone diagnostic reporting

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.29

LOEUF· LoF intol.

LOF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.29LOEUF

pLI 0.982

Z-score 7.73

OE 0.20 (0.14–0.29)

Highly constrained

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

Missense Constraint?

1.33Z-score

OE missense 0.89 (0.84–0.94)

971 obs / 1095.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.20 (0.14–0.29)

0≤0.351.4

Missense OE?0.89 (0.84–0.94)

0≤0.61.4

Synonymous OE?0.98

0≤1.21.6

LoF obs/exp: 22 / 109.2Missense obs/exp: 971 / 1095.0Syn Z: 0.35

Background carrier burden — how many people carry a rare variant somewhere in BAZ2B?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 24

2,535 rare PASS variants

Rare truncating (LoF)

1 in 1,600

177 rare PASS variants

Rare synonymous (reference)

1 in 66

943 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for BAZ2B. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 37	1 in 2,000
South Asian	~43k	1 in 26	1 in 1,500
Remaining (unassigned)	~30k	1 in 25	1 in 540
European (Finnish)	~27k	1 in 110	1 in 1,500
Admixed American	~22k	1 in 27	1 in 1,200
African / African American	~21k	1 in 27	1 in 980
East Asian	~20k	1 in 28	1 in 1,200
Ashkenazi Jewish	~13k	1 in 120	1 in 650
Middle Eastern	~2,884	1 in 38	≈ 1 in 1,400

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 31 of 35 coding exons well covered in gnomAD exomes; exons 11, 17, 19, 36 marginal. Genomes: 34 of 35 (exon 36 below).? see exons ↓