BAZ2A
Bromodomain Adjacent to Zinc Finger Domain 2A
Gene Information Card
| Symbol | BAZ2A |
|---|---|
| Full Name | Bromodomain Adjacent to Zinc Finger Domain 2A |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.3 |
| NCBI Gene ID | 11176 ncbi.nlm.nih.gov/gene/11176 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q9UIF9 |
| OMIM ID | 605682 |
| HGNC ID | 963 |
| Aliases | TIP5, WALp3, hWALp3 |
Description
BAZ2A (bromodomain adjacent to zinc finger domain 2A) encodes a protein that is a subunit of the NoRC (nucleolar remodeling complex) and plays a key role in chromatin remodeling, particularly in the silencing of ribosomal RNA genes. It contains a bromodomain, a PHD finger, and a WAC domain, and is involved in transcriptional regulation, cell cycle control, and DNA damage response. BAZ2A is implicated in various cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Overexpression of BAZ2A promotes proliferation and invasion via chromatin remodeling at oncogene promoters | PMID: 25609607 |
| Colorectal cancer | BAZ2A amplification correlates with poor prognosis and activates Wnt signaling | PMID: 29367604 |
| Neurodevelopmental disorders | De novo missense variants in BAZ2A associated with intellectual disability and autism spectrum disorder | ClinVar: SCV001422345 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| HEK293 | 7.8 | Embryonic kidney cell line |
| K562 | 6.5 | Leukemia cell line |
| MCF7 | 9.3 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.1% | Likely loss of function in neurodevelopmental cases |
| c.567_568insA (p.Gln190Thrfs*3) | Frameshift | Rare | Loss of function, associated with intellectual disability |
| c.2101G>A (p.Glu701Lys) | Missense | 0.2% in COSMIC | Gain of function in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in BAZ2A lead to truncated protein, impairing NoRC complex assembly and rDNA silencing, associated with neurodevelopmental phenotypes.
Gain of Function (GOF)
Missense mutations in the bromodomain (e.g., p.Glu701Lys) enhance chromatin binding and oncogenic transcriptional programs in cancer.
Dominant Negative (DN)
Not well characterized; some missense variants may disrupt NoRC complex integrity without complete loss of function.
View complete mutation data：
Gene Ontology (GO)
| • chromatin binding | • zinc ion binding |
| • DNA binding | • histone acetyltransferase binding |
| • nucleolar large rRNA transcription by RNA polymerase I |
Pathways
• Chromatin remodeling (NoRC complex)
• rRNA transcription regulation
• Wnt signaling pathway
Protein Summary
The BAZ2A protein (also known as TIP5) is a 1905-amino acid nuclear protein that serves as a scaffold for the NoRC complex. It contains a bromodomain that recognizes acetylated histones, a PHD finger that binds methylated histones, and a WAC domain. BAZ2A recruits chromatin modifiers to silence ribosomal RNA genes and also regulates transcription of protein-coding genes involved in cell proliferation and differentiation. Its dysregulation contributes to oncogenesis and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BAZ2A Knockout HEK293 Cell Line | EDJ-KQ7318 | Human | 11176 | Details Get a Quote |
| BAZ2A Knockout A-549 Cell Line | EDJ-KQ31009 | Human | 11176 | Details Get a Quote |
| BAZ2A Knockout HCT 116 Cell Line | EDJ-KQ32382 | Human | 11176 | Details Get a Quote |
| BAZ2A Knockout HeLa Cell Line | EDJ-KQ32383 | Human | 11176 | Details Get a Quote |
