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]

5
Active trials
114
Pathogenic / LP
145
ClinVar variants
25
Pubs (1 yr)
2.1
Missense Z
0.24
LOEUF· LoF intolerant
Clinical Summary— TNFSF13B
⚡
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.
📋
ClinVar Variants
114 Pathogenic / Likely Pathogenic· 23 VUS of 145 total submissions
💊
Clinical Trials
5 active or recruiting trials — potential therapeutic options may be available

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

145 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic114
VUS23
Likely Benign4
Benign4
114
Pathogenic
23
VUS
4
Likely Benign
4
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
114
0
114
Likely Pathogenic
0
0
0
0
0
VUS
0
13
10
0
23
Likely Benign
0
3
0
1
4
Benign
0
1
2
1
4
Total0171262145

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

TNFSF13B · protein map & ClinVar variants

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

Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Stratifying patients by TNFSF13B genotype revealed increased flare and renal flare risk, but a greater benefit from belimumab: a potential biomarker for personalized treatment in systemic lupus erythematosus.
Pireddu MP et al.·J Autoimmun
2025Cohort
The C5AR1/TNFSF13B axis alleviates osteoarthritis by activating the PI3K/Akt/GSK3β/Nrf2/HO-1 pathway to inhibit ferroptosis.
Lv M et al.·Exp Cell Res
2024
TNFSF13B rs9514828 C>T Polymorphism is Associated with Incidence of Atherosclerosis and Therapeutic Outcomes in Patients with Systemic Lupus Erythematosus.
Fajar DR et al.·Biologics
2024Open AccessCohort
Associations between TNFSF13B polymorphisms and primary Sjögren's syndrome susceptibility in primary Sjögren's syndrome patients: A meta-analysis.
Zheng A et al.·Immun Inflamm Dis
2023Open AccessCohort
Top 5 resultsSearch Europe PMC ↗

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