BRWD3 Gene Summary [Human]
The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene are associated with a spectrum of cognitive disabilities and X-linked macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, Jul 2017]
Details
| Type | Protein Coding |
| Official Symbol | BRWD3 |
| Official Name | bromodomain and WD repeat domain containing 3 [Source:HGNC Symbol;Acc:HGNC:17342] |
| Ensembl ID | ENSG00000165288 |
| Bio databases IDs | |
| Aliases | bromodomain and WD repeat domain containing 3 |
| Synonyms | BRODL, bromodomain and WD repeat domain containing 3, D030064D06Rik, DCAF20, Gm10452, Gm596, MRX93, RGD1559445, XLID93 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BRWD3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- WD40 repeats
- WD domain, G-beta repeat
- WD40
- Bromodomain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- mental retardation
- hereditary disorder
- X linked mental retardation with microcephaly
- pervasive developmental disorder
- neurodevelopmental disorder
- angina pectoris
- syndromic X-linked mental retardation
regulated by
- EGLN
- dimethyl n-oxalyl-glycine
role in cell
- organization
- binding in
- homologous recombination repair in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Unknown
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BRWD3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of cell shape
- cytoskeleton organization
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus