TNFRSF11B

Chr 8

TNF receptor superfamily member 11b

Also known as: OCIF, OPG, PDB5, TR1

NCBI Gene: 4982ENSG00000164761UniProt: O00300

The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is an osteoblast-secreted decoy receptor that functions as a negative regulator of bone resorption. This protein specifically binds to its ligand, osteoprotegerin ligand, both of which are key extracellular regulators of osteoclast development. Studies of the mouse counterpart also suggest that this protein and its ligand play a role in lymph-node organogenesis and vascular calcification. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPaget disease of bone 5, juvenile-onset

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.
2
Active trials
56
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.55
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — TNFRSF11B
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.55LOEUF
pLI 0.162
Z-score 3.00
OE 0.26 (0.14–0.55)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.84Z-score
OE missense 0.84 (0.74–0.95)
184 obs / 219.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.26 (0.14–0.55)
0≤0.351.4
Missense OE?0.84 (0.74–0.95)
0≤0.61.4
Synonymous OE?0.92
0≤1.21.6
LoF obs/exp: 5 / 19.2Missense obs/exp: 184 / 219.0Syn Z: 0.57

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TNFRSF11B · 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