BRD10 (Bromodomain Containing 10)
Gene encoding a bromodomain-containing protein involved in chromatin regulation and transcriptional control.
Gene Information Card
| Symbol | BRD10 |
|---|---|
| Full Name | Bromodomain Containing 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 100130426 ncbi.nlm.nih.gov/gene/100130426 |
| Ensembl ID | ENSG00000205755 |
| UniProt ID | Q8N7Z5 |
| OMIM ID | 617536 |
| HGNC ID | 34376 |
| Aliases | BRD10, FLJ46321 |
Description
BRD10 is a protein-coding gene that encodes a member of the bromodomain-containing protein family. Bromodomains are conserved structural motifs that recognize acetylated lysine residues on histone tails, facilitating chromatin remodeling and transcriptional regulation. BRD10 is implicated in cellular processes such as cell cycle control and gene expression, and its dysregulation may contribute to cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered chromatin binding due to BRD10 mutations may disrupt transcriptional programs, promoting oncogenesis. | COSMIC; ClinVar |
| Developmental disorders | Loss-of-function variants in BRD10 may impair chromatin regulation during embryogenesis. | OMIM; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Brain | 3.5 | Low |
| Lung | 2.1 | Low |
| Liver | 1.8 | Low |
| Kidney | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.0 | Moderate expression |
| HeLa | 3.2 | Moderate expression |
| K562 | 2.5 | Low expression |
| MCF7 | 1.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; predicted to cause nonsense-mediated decay |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function; truncation of bromodomain |
| c.890A>G (p.Tyr297Cys) | Missense | <0.1% | Uncertain significance; may affect protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) result in truncated proteins lacking functional bromodomain, leading to loss of chromatin-binding activity.
Gain of Function (GOF)
No gain-of-function mutations reported in BRD10.
Dominant Negative (DN)
No dominant-negative mutations reported in BRD10.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • histone binding (GO:0042393) |
| • nucleus (GO:0005634) | • regulation of transcription (GO:0006355) |
| • chromatin remodeling (GO:0006338) |
Pathways
• Chromatin organization
• Transcriptional regulation by bromodomain proteins
Protein Summary
BRD10 encodes a protein of approximately 1,200 amino acids containing a single N-terminal bromodomain. The bromodomain specifically recognizes acetylated lysine residues on histones H3 and H4, mediating interactions with chromatin and recruiting transcriptional complexes. The protein is predominantly nuclear and is expressed at low to moderate levels across tissues, with highest expression in testis. Structural integrity of the bromodomain is critical for its function; truncating mutations abolish histone-binding capacity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BRD10 Knockout HeLa Cell Line | EDJ-KQ43819 | Human | 158358 | Details Get a Quote |
| BRD10 Knockout HCT 116 Cell Line | EDJ-KQ43818 | Human | 158358 | Details Get a Quote |
| BRD10 Knockout A-549 Cell Line | EDJ-KQ43817 | Human | 158358 | Details Get a Quote |
| BRD10 Knockout HEK293 Cell Line | EDJ-KQ13930 | Human | 158358 | Details Get a Quote |
