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]

ResearchGenerating clinical summary…
2
Active trials
36
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.88
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
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?
-1.24Z-score
OE missense 1.34 (1.17–1.54)
143 obs / 106.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.27 (0.72–1.88)
0≤0.351.4
Missense OE?1.34 (1.17–1.54)
0≤0.61.4
Synonymous OE?1.22
0≤1.21.6
LoF obs/exp: 8 / 6.3Missense obs/exp: 143 / 106.8Syn Z: -1.12

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

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