TNFSF13B

Chr 13

TNF superfamily member 13b

ENSG00000102524 UniProt: Q9Y275 OMIM: 603969

The protein encoded by TNFSF13B is a cytokine that binds to specific receptors (TACI, BCMA, and BAFFR) to stimulate B-cell function, promote mature B-cell survival, and regulate humoral immunity. Mutations cause immunodeficiency disorders affecting antibody production and B-cell development, with autosomal dominant and autosomal recessive inheritance patterns reported. This gene is highly constrained against loss-of-function variants (pLI = 0.98), indicating that complete loss of function is likely not tolerated.

OMIM ResearchSummary from RefSeq, UniProt

LOEUF 0.24

Clinical Summary— TNFSF13B

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.98). One damaged copy is likely sufficient to cause disease.

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Clinical Trials

4 active or recruiting trials — potential therapeutic options may be available

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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 OE0.00 (0.00–0.24)

0≤0.351.4

Missense OE0.51 (0.42–0.61)

0≤0.61.4

Synonymous OE0.94

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.

3D Protein StructureAlphaFold

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

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

Clinical Literature

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Landmark / reviewRecent case evidence

Full-Text Mentions

NLP-detected gene mentions in article bodies · via PubTator3