AlphaFold predicted structure
BAZ2B · Q9UIF8
Mean pLDDT
54.3/ 100
Low
2,168 residues
Confidence breakdown
- Very high(≥ 90)15%
- Confident(70–90)19%
- Low(50–70)10%
- Very low(< 50)57%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
BAZ2B
Chr 2q24.2bromodomain adjacent to zinc finger domain 2B
- Aliases:
- WALp4
- MANE:
- ENST00000392783.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
neurodevelopmental disorder
0.58hereditary disease
0.45Intellectual disability
0.37hypothyroidism
0.37Jaundice
0.29bilirubin metabolism disease
0.29Peyronie disease
0.29smoking initiation
0.27arthropathy
0.27type 2 diabetes mellitus
0.27
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Bromodomain adjacent to zinc finger domain protein 2B
Regulatory subunit of the ATP-dependent BRF-1 and BRF-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair (PubMed:28801535). Both complexes regulate the spacing of nucleosomes along the chromatin and have the ability to slide mononucleosomes to the center of a DNA template (PubMed:28801535). The BRF-1 ISWI chromatin remodeling complex has a lower ATP hydrolysis rate than the BRF-5 ISWI chromatin remodeling complex (PubMed:28801535). Chromatin reader protein, which may play a role in transcriptional regulation via interaction with ISWI (By similarity) (PubMed:10662543). Involved in positively modulating the rate of age-related behavioral deterioration (By similarity). Represses the expression of mitochondrial function-related genes, perhaps by occupying their promoter regions, working in concert with histone methyltransferase EHMT1 (By similarity)
Diseases associated with BAZ2B
Curated MONDO disease pages that list BAZ2B among their top associated genes.