TNFRSF17

Chr 16

TNF receptor superfamily member 17

Also known as: BCM, BCMA, CD269, TNFRSF13A

NCBI Gene: 608ENSG00000048462UniProt: Q02223

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is preferentially expressed in mature B lymphocytes, and may be important for B cell development and autoimmune response. This receptor has been shown to specifically bind to the tumor necrosis factor (ligand) superfamily, member 13b (TNFSF13B/TALL-1/BAFF), and to lead to NF-kappaB and MAPK8/JNK activation. This receptor also binds to various TRAF family members, and thus may transduce signals for cell survival and proliferation. [provided by RefSeq, Jul 2008]

62
ClinVar variants
17
Pathogenic / LP
0.00
pLI score
2
Active trials
Clinical Summary— TNFRSF17
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
17 Pathogenic / Likely Pathogenic· 42 VUS of 62 total submissions
💊
Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.88LOEUF
pLI 0.000
Z-score -0.63
OE 1.27 (0.72–1.88)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-1.24Z-score
OE missense 1.34 (1.17–1.54)
143 obs / 106.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.1.27 (0.72–1.88)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.34 (1.17–1.54)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.22
0≤1.21.6
LoF obs/exp: 8 / 6.3Missense obs/exp: 143 / 106.8Syn Z: -1.12

ClinVar Variant Classifications

62 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic15
Likely Pathogenic2
VUS42
Benign1
15
Pathogenic
2
Likely Pathogenic
42
VUS
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
15
0
15
Likely Pathogenic
0
0
2
0
2
VUS
0
25
17
0
42
Likely Benign
0
0
0
0
0
Benign
0
1
0
0
1
Total02634060

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

View in ClinVar →

Protein Context — Lollipop Plot

TNFRSF17 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Targeting B Cell Maturation Antigen (BCMA) in Multiple Myeloma: Potential Uses of BCMA-Based Immunotherapy.
Cho SF et al.·Front Immunol
2018Review
Antigen escape as a shared mechanism of resistance to BCMA-directed therapies in multiple myeloma.
Firestone RS et al.·Blood
2024Functional
Cord blood methylation at TNFRSF17 is associated with early allergic phenotypes.
Danielewicz H et al.·Immunol Res
2024
Single-cell transcriptomic profiling reveals dysregulation of B-cell subset function in patients with chronic hepatitis B.
Li J et al.·Hepatol Int
2025Cohort
Identifying and validating immunological biomarkers in obstructive sleep apnea through bioinformatics analysis.
Zhou EH et al.·Sci Rep
2025
Immunological drivers and potential novel drug targets for major psychiatric, neurodevelopmental, and neurodegenerative conditions.
Dardani C et al.·Mol Psychiatry
2025
Landscape of clinical drug development of ADCs used for the pharmacotherapy of cancers: an overview of clinical trial registry data from 2002 to 2022.
Zhou W et al.·BMC Cancer
2024Review
Protein and functional isoform levels and genetic variants of the BAFF and APRIL pathway components in systemic lupus erythematosus.
Ortiz-Aljaro P et al.·Sci Rep
2022Functional
Malignant cell-mediated Treg immune suppression via ICOSLG-ICOS axis in tumor microenvironment relates to nasopharyngeal carcinoma prognosis.
Tan Y et al.·Int Immunopharmacol
2025
Immunological and transcriptomic profile of chimeric live-attenuated Zika vaccine linked to protection in non-human primates.
Ma J et al.·Nat Commun
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Breast Cancer Early Stage Breast Cancer (Stage 1-3)Prehabilitation

Multimodal Prehabilitation Program That Combines Physical Exercise, Psychological Intervention and Nutritional Support to Improve the Response to Neoadjuvant Chemoterhapy in Early Breast Cancer Patients

RECRUITING
NCT07107594Phase NAHospital Clinic of BarcelonaStarted 2025-01-14
Multimodal prehabilitation
Leukemia, Plasma Cell

Study to Evaluate the Safety and Efficacy of ARI0002h, for the Initial Treatment of Patients With Primary Plasma Cell Leukaemia

NOT YET RECRUITING
NCT06830733Phase PHASE2Fundacion Clinic per a la Recerca BiomédicaStarted 2025-04
ARI0002h

External Resources

Links to major genomics databases and tools