TNFSF13B

Chr 13

TNF superfamily member 13b

Also known as: BAFF, BLYS, CD257, TALL-1, TALL1, THANK, TNFSF20, TNLG7A

NCBI Gene: 10673ENSG00000102524UniProt: Q9Y275

The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptors TNFRSF13B/TACI, TNFRSF17/BCMA, and TNFRSF13C/BAFFR. This cytokine is expressed in B cell lineage cells, and acts as a potent B cell activator. It has been also shown to play an important role in the proliferation and differentiation of B cells. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
5
Active trials
50
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.24
LOEUF· LoF intol.
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.24LOEUF
pLI 0.982
Z-score 3.24
OE 0.00 (0.00–0.24)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
2.14Z-score
OE missense 0.51 (0.42–0.61)
75 obs / 148.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.24)
0≤0.351.4
Missense OE?0.51 (0.42–0.61)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 0 / 12.2Missense obs/exp: 75 / 148.5Syn Z: 0.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TNFSF13B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Recurrent B Acute Lymphoblastic LeukemiaRecurrent B Lymphoblastic LymphomaRefractory B Acute Lymphoblastic Leukemia

Genetically Engineered Cells (BAFFR-CAR T Cells) for the Treatment of Relapsed or Refractory B-cell Acute Lymphoblastic Leukemia and B-cell Lymphoblastic Lymphoma

NOT YET RECRUITING
NCT07758673Phase PHASE1City of Hope Medical CenterStarted 2027-04-17
Autologous BAFFR-targeting CAR T CellsBiospecimen CollectionBone Marrow Aspiration
Chronic Inflammatory Demyelinating PolyradiculoneuropathyNMO Spectrum DisorderMyasthenia Gravis

Safety and Efficacy of BAFF-R CART for Refractory Neuroimmune Diseases

RECRUITING
NCT07022197Phase PHASE1, PHASE2Tianjin Medical University General HospitalStarted 2025-04-10
BAFF-R CART
Cardiovascular DiseaseFrailty

Investigating the Combined Effects of Protein, Blueberries, and Exercise on Cardiovascular Health and Frailty in Older Nova Scotians

RECRUITING
NCT06693271Phase NANova Scotia Health AuthorityStarted 2025-12-15
intervention of protein, blueberriesExercise training
B-Cell Non-Hodgkin LymphomaRecurrent Chronic Lymphocytic LeukemiaRecurrent Diffuse Large B-Cell Lymphoma

B-Cell Activating Factor Receptor (BAFFR)-Based Chimeric Antigen Receptor T-Cells With Fludarabine and Cyclophosphamide Lymphodepletion for the Treatment of Relapsed or Refractory B-cell Hematologic Malignancies

RECRUITING
NCT06191887Phase PHASE1Mayo ClinicStarted 2024-03-18
Autologous BAFFR-targeting CAR T CellsBendamustineBiopsy
HivHBV Coinfection

Towards a Functional Cure for HBV - The COMMIT Cohort Study

ACTIVE NOT RECRUITING
NCT03645044University of MelbourneStarted 2018-05-24

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients