BCL7A
BCL7A: A SWI/SNF Complex Component Implicated in Hematological Malignancies and Development
Gene Information Card
| Symbol | BCL7A |
|---|---|
| Full Name | BAF chromatin remodeling complex subunit BCL7A |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 605 ncbi.nlm.nih.gov/gene/605 |
| Ensembl ID | ENSG00000110987 |
| UniProt ID | Q9BQE9 |
| OMIM ID | 601406 |
| HGNC ID | 1003 |
| Aliases | BCL7, BCL7A, BAF250b |
Description
BCL7A encodes a component of the SWI/SNF (BAF) chromatin remodeling complex, which regulates gene expression by altering nucleosome positioning. The protein contains a conserved BCL7 domain and is involved in transcriptional activation and repression. BCL7A is frequently altered in B-cell non-Hodgkin lymphoma through chromosomal translocations and mutations, contributing to lymphomagenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| B-cell non-Hodgkin lymphoma | Chromosomal translocation t(12;14)(q24;q32) involving BCL7A and IGH locus leads to overexpression and dysregulation of B-cell development. | NCBI Gene, OMIM |
| Burkitt lymphoma | Recurrent somatic mutations and copy number alterations in BCL7A disrupt SWI/SNF complex function, promoting uncontrolled proliferation. | COSMIC, ClinVar |
| Diffuse large B-cell lymphoma | Loss-of-function mutations in BCL7A impair chromatin remodeling, contributing to aberrant gene expression. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Bone marrow | 8.9 | Low |
| Whole blood | 3.1 | Low |
| Brain | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Raji (Burkitt lymphoma) | 15.3 | High expression |
| Daudi (Burkitt lymphoma) | 14.1 | High expression |
| K562 (leukemia) | 6.7 | Moderate expression |
| HEK293 (embryonic kidney) | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163*) | Nonsense | <1% | Truncation leading to loss of function |
| c.632_633del (p.Glu211Valfs*5) | Frameshift | <1% | Loss of protein function |
| c.1045G>A (p.Gly349Arg) | Missense | <0.5% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, disrupting SWI/SNF complex assembly and chromatin remodeling.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • chromatin remodeling | • transcriptional regulation |
| • SWI/SNF complex | • nucleosome disassembly |
| • negative regulation of cell cycle |
Pathways
• SWI/SNF chromatin remodeling pathway
• BAF complex pathway
Protein Summary
BCL7A is a 247-amino acid protein (UniProt Q9BQE9) that localizes to the nucleus and is a stable component of the SWI/SNF (BAF) chromatin remodeling complex. It contains a conserved BCL7 domain of unknown function but is essential for complex integrity. The protein interacts with other BAF subunits such as SMARCA4 and ARID1A, facilitating ATP-dependent nucleosome remodeling. BCL7A is highly expressed in lymphoid tissues and is critical for normal B-cell development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCL7A Knockout HEK293 Cell Line | EDJ-KQ3461 | Human | 605 | Details Get a Quote |
| BCL7A Knockout A-549 Cell Line | EDJ-KQ26543 | Human | 605 | Details Get a Quote |
| BCL7A Knockout HCT 116 Cell Line | EDJ-KQ26545 | Human | 605 | Details Get a Quote |
| BCL7A Knockout HeLa Cell Line | EDJ-KQ26546 | Human | 605 | Details Get a Quote |
