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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TNFRSF11B
TNF receptor superfamily member 11b
Chromosome 8 Β· 8q24.12
NCBI Gene: 4982Ensembl: ENSG00000164761.10HGNC: HGNC:11909UniProt: O00300
804PubMed Papers
21Diseases
0Drugs
13Pathogenic Variants
FUNCTIONAL ROLE
Receptor
RESEARCH IMPACT
Highly Studied
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GO:0005615protein bindingskeletal system developmentsignal transductionjuvenile Paget diseaseosteoporosishypothyroidismbone disease
✦AI Summary

TNFRSF11B encodes osteoprotegerin (OPG), a decoy receptor that acts as the primary negative regulator of osteoclastogenesis. OPG binds RANKL (TNFSF11), preventing its interaction with RANK and thereby inhibiting osteoclast differentiation and activation 1. This regulatory function is critical for bone homeostasis, as the local ratio between RANKL and OPG determines bone resorption rates 2. Beyond skeletal effects, OPG inhibits TRAIL-induced apoptosis and may prevent arterial calcification 3. Clinically, TNFRSF11B dysfunction causes juvenile Paget disease (JPD), a rare disorder characterized by mutations that reduce OPG function, resulting in severely accelerated bone turnover, progressive skeletal deformity, hearing loss, and vascular complications including arterial aneurysms 4. Loss-of-function mutations in TNFRSF11B cause generalized, extremely rapid bone remodeling that requires life-long anti-resorptive therapy 4. Conversely, TNFRSF11B polymorphisms that enhance OPG function show protective effects against fractures in older adults, with 13-37% risk reduction in postmenopausal women 56. RANKL inhibition via denosumab (anti-RANKL antibody) improves bone strength and additionally enhances muscle function and insulin sensitivity 7, suggesting pleiotropic therapeutic potential.

Sources cited
1
RANK signaling pathway regulates osteoclastogenesis and bone resorption mechanisms
PMID: 12748652
2
Osteoprotegerin is a principal regulator of osteoclast differentiation alongside RANKL and M-CSF
PMID: 10968780
3
RANKL/RANK/OPG pathway is a critical bone remodeling regulatory system
PMID: 32149122
4
TNFRSF11B mutations cause juvenile Paget disease with loss of OPG function leading to rapid bone turnover and extra-skeletal manifestations
PMID: 29080812
5
TNFRSF11B polymorphisms (rs2073618, rs3134069, rs3134070) provide 13-37% protective effect against fractures in older adults, particularly postmenopausal women
PMID: 34716467
6
TNFRSF11B polymorphism T245G (rs3134069) is associated with osteoporotic fracture risk in postmenopausal women
PMID: 25323794
7
RANKL inhibition via denosumab improves bone strength, muscle force, muscle mass, and insulin sensitivity
PMID: 31120440
Disease Associationsβ“˜21
juvenile Paget diseaseOpen Targets
0.72Strong
osteoporosisOpen Targets
0.49Moderate
hypothyroidismOpen Targets
0.48Moderate
bone diseaseOpen Targets
0.39Weak
myxedemaOpen Targets
0.39Weak
bone fractureOpen Targets
0.36Weak
Nasal Cavity PolypOpen Targets
0.34Weak
autoimmune diseaseOpen Targets
0.31Weak
thyroid diseaseOpen Targets
0.31Weak
childhood onset asthmaOpen Targets
0.30Weak
Hashimoto's thyroiditisOpen Targets
0.29Weak
basal cell carcinomaOpen Targets
0.23Weak
food allergyOpen Targets
0.22Weak
ulna fractureOpen Targets
0.22Weak
keratinocyte carcinomaOpen Targets
0.21Weak
radius fractureOpen Targets
0.20Weak
head and neck malignant neoplasiaOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
connective tissue diseaseOpen Targets
0.12Weak
breast cancerOpen Targets
0.12Weak
Paget disease of bone 5, juvenile-onsetUniProt
Pathogenic Variants13
NM_002546.4(TNFRSF11B):c.1205A>T (p.Ter402Leu)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 402
NM_002546.4(TNFRSF11B):c.577C>T (p.Gln193Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 193
NM_002546.4(TNFRSF11B):c.412C>T (p.Arg138Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 138
NM_002546.4(TNFRSF11B):c.25_28dup (p.Val10fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 10
NM_002546.4(TNFRSF11B):c.997C>T (p.Arg333Ter)Pathogenic
Hyperphosphatasemia with bone disease
β˜…β˜†β˜†β˜†2019β†’ Residue 333
NM_002546.4(TNFRSF11B):c.419_420del (p.Thr140fs)Likely pathogenic
Hyperphosphatasemia with bone disease
β˜…β˜†β˜†β˜†2019β†’ Residue 140
NM_002546.4(TNFRSF11B):c.194G>T (p.Cys65Phe)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†β†’ Residue 65
NM_002546.4(TNFRSF11B):c.226A>C (p.Thr76Pro)Pathogenic
Hyperphosphatasemia with bone disease
β˜†β˜†β˜†β˜†2014β†’ Residue 76
NC_000008.11:g.(118690580_118696647)_(118950613_118950848)delPathogenic
Hyperphosphatasemia with bone disease
β˜†β˜†β˜†β˜†2014
NM_002546.4(TNFRSF11B):c.966_969delinsCTT (p.Asp323fs)Pathogenic
Hyperphosphatasemia with bone disease
β˜†β˜†β˜†β˜†2003β†’ Residue 323
NM_002546.4(TNFRSF11B):c.260G>A (p.Cys87Tyr)Pathogenic
Hyperphosphatasemia with bone disease
β˜†β˜†β˜†β˜†2003β†’ Residue 87
NM_002546.4(TNFRSF11B):c.544_546del (p.Asp182del)Pathogenic
Hyperphosphatasemia with bone disease
β˜†β˜†β˜†β˜†2003β†’ Residue 182
nsv513786Pathogenic
Hyperphosphatasemia with bone disease
β˜†β˜†β˜†β˜†2002
View on ClinVar β†—
Related Genes
ARSLShared pathway100%PAPSS1Shared pathway100%SHOXShared pathway100%PRELPShared pathway100%TNFSF10Protein interaction92%ACP5Protein interaction78%
Tissue Expression6 tissues
Liver
100%
Heart
78%
Lung
77%
Brain
18%
Ovary
5%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
TNFRSF11BARSLPAPSS1SHOXPRELPTNFSF10ACP5
PROTEIN STRUCTURE
Preparing viewer…
PDB3URF Β· 2.70 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.54Moderately Constrained
pLIβ“˜
0.88Intermediate
Observed/Expected LoF0.36 [0.24–0.54]
RankingsWhere TNFRSF11B stands among ~20K protein-coding genes
  • #241of 20,598
    Most Researched804 Β· top 5%
  • #2,557of 5,498
    Most Pathogenic Variants13
  • #3,444of 17,882
    Most Constrained (LOEUF)0.54 Β· top quartile
Genes detectedTNFRSF11B
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Osteoclast differentiation and activation.
PMID: 12748652
Nature Β· 2003
1.00
2
Bone resorption by osteoclasts.
PMID: 10968780
Science Β· 2000
0.90
3
TNFRSF11B gene variants and bone mineral density in postmenopausal women in Malta.
PMID: 16343827
Maturitas Β· 2006
0.80
4
Pathogenesis of osteoporosis: concepts, conflicts, and prospects.
PMID: 16322775
J Clin Invest Β· 2005
0.80
5
TNFRSF11B gene polymorphisms 1181G > C and 245T > G as well as haplotype CT influence bone mineral density in postmenopausal women.
PMID: 21411255
Maturitas Β· 2011
0.78