TNFSF13B Gene (TNF Superfamily Member 13b)
Key Regulator of B-Cell Survival and Autoimmunity
Gene Information Card
| Symbol | TNFSF13B |
|---|---|
| Full Name | TNF Superfamily Member 13b |
| Gene Type | Protein coding |
| Chromosomal Location | 13q33.3 |
| NCBI Gene ID | 10673 ncbi.nlm.nih.gov/gene/10673 |
| Ensembl ID | ENSG00000102524 |
| UniProt ID | Q9Y275 |
| OMIM ID | 604472 |
| HGNC ID | 11929 |
| Aliases | BAFF, BLyS, TALL-1, THANK, TNFSF20, ZTNF4 |
Description
TNFSF13B encodes the B-cell activating factor (BAFF), a member of the tumor necrosis factor (TNF) ligand family. BAFF is a cytokine that binds to BAFF-R, TACI, and BCMA receptors, promoting B-cell survival, maturation, and immunoglobulin production. Overexpression is linked to autoimmune diseases and B-cell malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic lupus erythematosus | Increased BAFF levels promote autoreactive B-cell survival and autoantibody production | GWAS, serum studies (NCBI, OMIM) |
| Rheumatoid arthritis | BAFF overexpression enhances B-cell activation and synovial inflammation | Serum and synovial fluid analysis (NCBI) |
| Common variable immunodeficiency | TNFSF13B mutations impair B-cell maturation | Familial studies, ClinVar |
| B-cell non-Hodgkin lymphoma | BAFF acts as a survival factor for malignant B cells | Expression studies, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | High |
| Spleen | 11.8 | High |
| Bone marrow | 8.2 | Medium |
| Lung | 3.1 | Low |
| Kidney | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Raji (Burkitt lymphoma) | 15.3 | High BAFF expression |
| K562 (leukemia) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 0.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497G>A (p.Arg166His) | Missense | <0.1% | Reduced receptor binding (ClinVar) |
| c.520C>T (p.Arg174Trp) | Missense | <0.1% | Impaired B-cell survival (ClinVar) |
| c.1-?_*?_del | Deletion | Rare | Loss of function (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Rare deletions and missense variants reduce BAFF secretion or receptor binding, impairing B-cell survival.
Gain of Function (GOF)
Overexpression due to regulatory variants increases BAFF levels, promoting autoimmunity.
Dominant Negative (DN)
Not reported for TNFSF13B.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005164 – tumor necrosis factor receptor binding | • GO:0006955 – immune response |
| • GO:0042100 – B cell proliferation | • GO:0005615 – extracellular space |
Pathways
• BAFF signaling pathway (Reactome R-HSA-5675221)
• NF-kappaB activation via BAFF (KEGG hsa04672)
Protein Summary
BAFF is a 285-amino acid type II transmembrane protein cleaved to a soluble form. It forms homotrimers that bind to BAFF-R, TACI, and BCMA, activating NF-κB and PI3K pathways to promote B-cell survival and differentiation. Dysregulation contributes to autoimmune and lymphoproliferative disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TNFSF13B Knockout HEK293 Cell Line | EDC07502 | Human | 10673 | Details Get a Quote |
| TNFSF13B Knockout HeLa Cell Line | EDJ-KQ55460 | Human | 10673 | Details Get a Quote |
| TNFSF13B Knockout A-549 Cell Line | EDJ-KQ63944 | Human | 10673 | Details Get a Quote |
| TNFSF13B Knockout HCT 116 Cell Line | EDJ-KQ72401 | Human | 10673 | Details Get a Quote |
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