BRD9
Description
The BRD9 (bromodomain containing 9) is a protein-coding gene located on chromosome 5.
BRD9 is a protein encoded by the BRD9 gene in humans. It contains a bromodomain and is closely related to BRD7. BRD9 is found in some SWI/SNF ATPase remodeling complexes. The BRD9 gene is often present in variable copy numbers in lung cancer. Small molecules that bind to the bromodomain of BRD9 have been developed.
BRD9 is involved in regulating gene expression by modifying chromatin structure. It acts as a 'reader' of histone modifications, recognizing acetylated and butyrylated histones. As part of the GBAF complex, a subcomplex of the SWI/SNF chromatin remodeling complex, it alters DNA-histone interactions within nucleosomes, using ATP as an energy source. BRD9 also plays a role in homologous recombination (HR) by facilitating the interaction of the RAD51 and RAD54 proteins, which are essential for repairing damaged DNA.
BRD9 is also known as LAVS3040, PRO9856, SMARCI2.
Associated Diseases
- cancer
- Miyoshi myopathy
- Ochoa syndrome
- gastrointestinal stromal tumor
- lysosomal storage disease
- osteoarthritis
- cholesterol-ester transfer protein deficiency
- testicular agenesis
- hypertriglyceridemia 2
- 46,XX ovotesticular disorder of sex development
- congenital lipoid adrenal hyperplasia due to STAR deficency
- congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- 46,XY sex reversal 3
