TNFRSF13B
TNF Receptor Superfamily Member 13B
Gene Information Card
| Symbol | TNFRSF13B |
|---|---|
| Full Name | TNF Receptor Superfamily Member 13B |
| Gene Type | protein-coding |
| Chromosomal Location | 17p11.2 |
| NCBI Gene ID | 23495 ncbi.nlm.nih.gov/gene/23495 |
| Ensembl ID | ENSG00000102316 |
| UniProt ID | O14836 |
| OMIM ID | 604907 |
| HGNC ID | 11953 |
| Aliases | TACI, CD267, CVID2, IGAD2 |
Description
TNFRSF13B encodes the transmembrane activator and CAML interactor (TACI) protein, a member of the tumor necrosis factor receptor superfamily. TACI is expressed primarily on B cells and plays a critical role in B-cell maturation, immunoglobulin class switching, and humoral immune responses. Mutations in this gene are associated with common variable immunodeficiency (CVID) and IgA deficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Common variable immunodeficiency (CVID) | Loss-of-function mutations impair TACI-mediated B-cell activation and class-switch recombination, leading to hypogammaglobulinemia and recurrent infections. | OMIM #240500; ClinVar |
| IgA deficiency (IGAD2) | Dominant-negative or hypomorphic variants disrupt IgA class switching, resulting in selective IgA deficiency. | OMIM #609529; ClinVar |
| Autoimmune lymphoproliferative syndrome (ALPS) | Rare gain-of-function or dominant-negative mutations may alter B-cell apoptosis and proliferation. | NCBI Gene; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 6.2 | Low |
| Blood | 4.1 | Low |
| Lung | 1.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Raji (Burkitt lymphoma) | 15.2 | B-cell line |
| Daudi (Burkitt lymphoma) | 14.8 | B-cell line |
| K562 (leukemia) | 0.5 | Not expressed |
| HeLa (cervical carcinoma) | 0.3 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.310T>C (p.Cys104Arg) | Missense | ~8% in CVID | Loss of function; disrupts ligand binding |
| c.542C>A (p.Ala181Glu) | Missense | ~5% in CVID | Dominant negative; impairs receptor signaling |
| c.204insA (p.Leu69fs) | Frameshift | Rare | Loss of function; truncated protein |
| c.599G>A (p.Arg200His) | Missense | ~2% in CVID | Hypomorphic; reduced B-cell activation |
Mutation functional classification
Loss of Function (LOF)
Common in CVID; variants impair TACI signaling, leading to defective B-cell class switching and antibody production.
Gain of Function (GOF)
Rare; may enhance B-cell survival and contribute to autoimmunity or lymphoproliferation.
Dominant Negative (DN)
Observed in some CVID and IgA deficiency cases; mutant TACI interferes with wild-type receptor function.
View complete mutation data：
Gene Ontology (GO)
| • receptor activity (GO:0004872) | • signal transduction (GO:0007165) |
| • B cell proliferation (GO:0042100) | • Ig class switching (GO:0045191) |
| • plasma membrane (GO:0005886) |
Pathways
• TNF receptor superfamily signaling (Reactome R-HSA-5668541)
• B cell receptor signaling (KEGG hsa04662)
• NF-kB activation via TACI (Reactome R-HSA-5673001)
Protein Summary
TACI (TNFRSF13B) is a type I transmembrane receptor of 293 amino acids, containing two cysteine-rich extracellular domains and a cytoplasmic tail that binds CAML and TRAF proteins. It is activated by ligands APRIL and BAFF, promoting B-cell survival, class-switch recombination, and antibody production. TACI deficiency leads to impaired humoral immunity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TNFRSF13B Knockout HEK293 Cell Line | EDJ-KQ1965 | Human | 23495 | Details Get a Quote |
| TNFRSF13B Knockout HeLa Cell Line | EDJ-KQ55750 | Human | 23495 | Details Get a Quote |
| TNFRSF13B Knockout A-549 Cell Line | EDJ-KQ64248 | Human | 23495 | Details Get a Quote |
| TNFRSF13B Knockout HCT 116 Cell Line | EDJ-KQ72694 | Human | 23495 | Details Get a Quote |
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