PAX5 Gene: Paired Box 5 Transcription Factor
Key regulator of B-cell development and differentiation, frequently altered in B-cell acute lymphoblastic leukemia (B-ALL)
Gene Information Card
| Symbol | PAX5 |
|---|---|
| Full Name | Paired Box 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p13.2 |
| NCBI Gene ID | 5079 ncbi.nlm.nih.gov/gene/5079 |
| Ensembl ID | ENSG00000196092 |
| UniProt ID | Q02548 |
| OMIM ID | 167414 |
| HGNC ID | 8619 |
| Aliases | BSAP, PAX-5 |
Description
PAX5 (Paired Box 5) encodes a transcription factor essential for B-cell lineage commitment and maintenance. It is a member of the paired box (PAX) family and is expressed primarily in B-lymphocytes and the developing central nervous system. PAX5 activates B-cell-specific genes while repressing genes of alternative hematopoietic lineages. Somatic mutations and chromosomal rearrangements involving PAX5 are common in B-cell acute lymphoblastic leukemia (B-ALL), often leading to haploinsufficiency or dominant-negative effects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| B-cell acute lymphoblastic leukemia (B-ALL) | PAX5 mutations (missense, nonsense, frameshift, deletions) cause loss of function or dominant-negative effects, impairing B-cell differentiation and promoting leukemogenesis. | PMID: 12419252, 19300479 |
| Acute lymphoblastic leukemia (ALL) with PAX5 rearrangement | Chromosomal translocations (e.g., PAX5-ETV6, PAX5-JAK2) generate fusion proteins that disrupt normal PAX5 activity. | PMID: 17344846, 19300479 |
| Lymphoma, non-Hodgkin | PAX5 alterations are occasionally reported in mature B-cell lymphomas, contributing to aberrant B-cell development. | PMID: 21415854 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 45.2 | High |
| Spleen | 38.7 | High |
| Bone marrow | 32.1 | High |
| Appendix | 28.5 | High |
| Brain (cerebellum) | 5.3 | Low |
| Testis | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Raji (Burkitt lymphoma) | 62.4 | B-cell line, high PAX5 expression |
| Daudi (Burkitt lymphoma) | 58.1 | B-cell line |
| K562 (chronic myeloid leukemia) | 0.8 | Non-B cell, low expression |
| HEK293 (embryonic kidney) | 0.5 | Non-hematopoietic, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.547C>T (p.Arg183*) | Nonsense | ~2% in B-ALL | Premature stop, loss of function |
| c.632_633del (p.Leu211fs) | Frameshift | ~1% in B-ALL | Frameshift, loss of function |
| c.215G>A (p.Gly72Asp) | Missense | ~0.5% in B-ALL | Reduced DNA binding, dominant-negative |
| PAX5-ETV6 fusion | Translocation | ~1% in B-ALL | Fusion protein, impaired transcriptional activity |
Mutation functional classification
Loss of Function (LOF)
Most PAX5 mutations in B-ALL result in loss of function (haploinsufficiency or complete loss), impairing B-cell differentiation and promoting leukemogenesis.
Gain of Function (GOF)
Rare; some PAX5 fusions (e.g., PAX5-JAK2) may exhibit gain-of-function via constitutive kinase activation.
Dominant Negative (DN)
Certain missense mutations (e.g., p.Gly72Asp) produce proteins that interfere with wild-type PAX5 function, acting as dominant-negative inhibitors.
View complete mutation data：
Gene Ontology (GO)
Pathways
• B cell receptor signaling pathway (Reactome: R-HSA-983705)
• Transcriptional regulation by PAX5 (Reactome: R-HSA-8939243)
• Development of B lymphocytes (KEGG: hsa04662)
Protein Summary
PAX5 (BSAP) is a 391-amino acid transcription factor containing a paired box DNA-binding domain and a partial homeodomain. It is critical for B-cell identity, activating B-cell-specific genes (e.g., CD19, CD79A) and repressing non-B lineage genes. PAX5 also plays roles in neural development. In cancer, loss or alteration of PAX5 function is a hallmark of B-ALL, with mutations occurring in approximately 30% of cases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAX5 Knockout HEK293 Cell Line | EDJ-KQ3392 | Human | 5079 | Details Get a Quote |
| PAX5 Knockout HeLa Cell Line | EDJ-KQ54084 | Human | 5079 | Details Get a Quote |
| PAX5 Knockout A-549 Cell Line | EDJ-KQ62572 | Human | 5079 | Details Get a Quote |
| PAX5 Knockout HCT 116 Cell Line | EDJ-KQ71042 | Human | 5079 | Details Get a Quote |
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