BACH2: BTB Domain and CNC Homolog 2
A key transcriptional regulator of B-cell development and immune homeostasis
Gene Information Card
| Symbol | BACH2 |
|---|---|
| Full Name | BTB Domain and CNC Homolog 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q15 |
| NCBI Gene ID | 60468 ncbi.nlm.nih.gov/gene/60468 |
| Ensembl ID | ENSG00000112182 |
| UniProt ID | Q9BYV9 |
| OMIM ID | 605394 |
| HGNC ID | 939 |
| Aliases | BTBD25, KIAA0929 |
Description
BACH2 (BTB Domain and CNC Homolog 2) encodes a transcription factor that belongs to the basic leucine zipper (bZIP) family. It forms heterodimers with MAF proteins and represses transcription by binding to Maf recognition elements (MAREs). BACH2 is essential for B-cell development, class switch recombination, and somatic hypermutation. It also plays a critical role in maintaining immune homeostasis and preventing autoimmunity. The gene is located on chromosome 6q15 and is frequently altered in B-cell malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autoimmune diseases (e.g., type 1 diabetes, multiple sclerosis, celiac disease) | BACH2 variants impair regulatory T-cell function and B-cell tolerance, leading to increased autoimmune risk | GWAS studies (PMID: 21829393, 22561519) |
| B-cell lymphoma (e.g., diffuse large B-cell lymphoma) | BACH2 acts as a tumor suppressor; loss of expression promotes lymphomagenesis via deregulated BCL6 and PRDM1 | Expression studies (PMID: 23334668, COSMIC) |
| Asthma and allergic diseases | BACH2 polymorphisms affect IgE levels and Th2 cytokine production | GWAS (PMID: 20860503) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.2 | Low |
| Lung | 1.5 | Not detected |
| Brain | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Raji (Burkitt lymphoma) | 15.2 | High expression |
| Daudi (Burkitt lymphoma) | 14.1 | High expression |
| K562 (leukemia) | 0.5 | Low expression |
| HEK293 (embryonic kidney) | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1132C>T (p.Arg378Trp) | Missense | <0.1% | Reduced DNA binding and transcriptional repression (ClinVar) |
| c.1465_1466del (p.Leu489fs) | Frameshift | <0.1% | Loss of function; associated with immunodeficiency (ClinVar) |
| c.1A>G (p.Met1Val) | Start loss | <0.1% | Loss of protein expression (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Most BACH2 mutations in immunodeficiency and lymphoma result in loss of transcriptional repressor activity, leading to deregulated B-cell differentiation.
Gain of Function (GOF)
Not well documented; rare activating mutations may contribute to oncogenic signaling in some B-cell lymphomas.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg378Trp) may act dominant-negative by forming nonfunctional heterodimers with MAF proteins.
View complete mutation data：
Gene Ontology (GO)
Pathways
• B-cell receptor signaling pathway (Reactome: R-HSA-983705)
• Regulation of B-cell differentiation (KEGG: hsa04662)
• Transcriptional regulation by BACH2 (WikiPathways: WP3959)
Protein Summary
BACH2 is a 841-amino acid transcription factor containing an N-terminal BTB/POZ domain and a C-terminal bZIP domain. It heterodimerizes with small MAF proteins (MAFF, MAFG, MAFK) to repress target genes involved in B-cell maturation and plasma cell differentiation. BACH2 is highly expressed in germinal center B cells and is critical for class switch recombination and somatic hypermutation. Its loss leads to premature plasma cell differentiation and increased susceptibility to autoimmunity and lymphoma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BACH2 Knockout HEK293 Cell Line | EDJ-KQ3892 | Human | 60468 | Details Get a Quote |
| BACH2 Knockout HCT 116 Cell Line | EDJ-KQ26107 | Human | 60468 | Details Get a Quote |
| BACH2 Knockout HeLa Cell Line | EDJ-KQ56977 | Human | 60468 | Details Get a Quote |
| BACH2 Knockout A-549 Cell Line | EDJ-KQ65479 | Human | 60468 | Details Get a Quote |
