HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TNFRSF11A
TNF receptor superfamily member 11a
Chromosome 18 · 18q21.33
NCBI Gene: 8792Ensembl: ENSG00000141655.19HGNC: HGNC:11908UniProt: Q9Y6Q6
293PubMed Papers
23Diseases
0Drugs
32Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transmembrane signaling receptor activityosteoclast differentiationcytokine bindingtumor necrosis factor-mediated signaling pathwayOsteopetrosis - hypogammaglobulinemiaautosomal recessive osteopetrosis 7osteitis deformansfamilial expansile osteolysis
✦AI Summary

TNFRSF11A encodes RANK (receptor activator of nuclear factor-κB), a TNF receptor superfamily member essential for bone homeostasis and immune regulation. As the primary receptor for RANKL/TNFSF11, TNFRSF11A is critical for osteoclast differentiation and activation through NF-κB and MAPK signaling pathways 1. Beyond skeletal biology, TNFRSF11A regulates intestinal epithelial homeostasis during pregnancy and lactation by protecting gut epithelial cells from apoptosis and controlling intestinal stem cell niches via BMP signaling, with offspring consequences for metabolic health 2. In immune contexts, TNFRSF11A participates in T-cell and dendritic cell interactions and, when aberrantly activated, cooperates with oncogenic signals to drive B-cell malignancies including chr18 lymphocytic leukemia and multiple myeloma 3. Gain-of-function TNFRSF11A mutations cause skeletal disorders including familial expansile osteolysis, early-onset Paget disease, and juvenile Paget disease characterized by excessive bone remodeling 45. Loss-of-function mutations result in osteopetrosis with increased bone density 5. TNFRSF11A also contributes to asthma pathogenesis through RANKL-RANK axis amplification of airway remodeling via TGFβ1/STAT3 signaling, with therapeutic potential for denosumab-based intervention 6. Additionally, TNFRSF11A expression in macrophages influences inflammatory responses and tissue injury in chr18 kidney disease 7.

Sources cited
1
RANK signaling pathway is essential for osteoclast differentiation, activation, and bone resorption
PMID: 12748652
2
RANK-RANKL regulates intestinal epithelial expansion during pregnancy/lactation by protecting epithelial cells from apoptosis and controlling stem cell niches
PMID: 39633049
3
RANK signaling in B-cells cooperates with oncogenic signals to drive chronic lymphocytic leukemia and multiple myeloma, and RANK inhibition reduces MM progression
PMID: 39198400
4
TNFSF11/TNFRSF11A axis amplifies HDM-induced airway remodeling through TGFβ1/STAT3 signaling in asthma
PMID: 39155739
5
TNFRSF11A gain-of-function duplication variants cause Paget disease of bone and related osteolytic disorders
PMID: 36520195
6
TNFRSF11A mutations cause skeletal disorders: gain-of-function mutations increase osteoclastogenesis (Paget disease, familial expansile osteolysis); loss-of-function mutations decrease osteoclastogenesis (osteopetrosis)
PMID: 32940787
7
TNFRSF11A expression in macrophages correlates with kidney inflammation and chronic kidney disease progression
PMID: 40834429
Disease Associationsⓘ23
Osteopetrosis - hypogammaglobulinemiaOpen Targets
0.75Strong
autosomal recessive osteopetrosis 7Open Targets
0.71Strong
osteitis deformansOpen Targets
0.68Moderate
familial expansile osteolysisOpen Targets
0.67Moderate
osteoporosisOpen Targets
0.53Moderate
asthmaOpen Targets
0.48Moderate
allergic rhinitisOpen Targets
0.47Moderate
osteopetrosisOpen Targets
0.46Moderate
Eczematoid dermatitisOpen Targets
0.45Moderate
childhood onset asthmaOpen Targets
0.45Moderate
Myasthenia gravisOpen Targets
0.42Moderate
bone diseaseOpen Targets
0.42Moderate
hypothyroidismOpen Targets
0.41Moderate
myxedemaOpen Targets
0.41Moderate
atopic eczemaOpen Targets
0.41Moderate
dysosteosclerosisOpen Targets
0.38Weak
Abnormality of the skeletal systemOpen Targets
0.38Weak
osteoarthritis, hipOpen Targets
0.37Weak
osteoarthritisOpen Targets
0.37Weak
osteoarthritis, kneeOpen Targets
0.35Weak
Familial expansile osteolysisUniProt
Osteopetrosis, autosomal recessive 7UniProt
Paget disease of bone 2, early-onsetUniProt
Pathogenic Variants32
NM_003839.4(TNFRSF11A):c.45_62dup (p.Leu16_Leu21dup)Pathogenic
Familial expansile osteolysis|Paget disease of bone 2, early-onset;Familial expansile osteolysis|not provided
★★☆☆2021→ Residue 16
NM_003839.4(TNFRSF11A):c.18_30del (p.Arg7fs)Pathogenic
not provided
★☆☆☆2025→ Residue 7
NM_003839.4(TNFRSF11A):c.1267C>T (p.Gln423Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 423
NM_003839.4(TNFRSF11A):c.975del (p.Met326fs)Pathogenic
not provided
★☆☆☆2024→ Residue 326
NM_003839.4(TNFRSF11A):c.427+1G>ALikely pathogenic
not provided
★☆☆☆2024
NM_003839.4(TNFRSF11A):c.364C>T (p.Gln122Ter)Pathogenic
not provided
★☆☆☆2024→ Residue 122
NM_003839.4(TNFRSF11A):c.784-1G>ALikely pathogenic
not provided
★☆☆☆2024
NM_003839.4(TNFRSF11A):c.3G>T (p.Met1Ile)Likely pathogenic
Inborn genetic diseases
★☆☆☆2024→ Residue 1
NM_003839.4(TNFRSF11A):c.521+1G>CLikely pathogenic
not provided
★☆☆☆2024
NM_003839.4(TNFRSF11A):c.1005del (p.Ile335fs)Pathogenic
not provided
★☆☆☆2024→ Residue 335
NM_003839.4(TNFRSF11A):c.360G>A (p.Trp120Ter)Pathogenic
not provided
★☆☆☆2023→ Residue 120
NM_003839.4(TNFRSF11A):c.39_65dup (p.Leu14_Ala22dup)Pathogenic
Paget disease of bone 2, early-onset|not provided
★☆☆☆2023→ Residue 14
NM_003839.4(TNFRSF11A):c.443A>T (p.Asp148Val)Likely pathogenic
Autosomal recessive osteopetrosis 7
★☆☆☆2023→ Residue 148
NM_003839.4(TNFRSF11A):c.447_448del (p.Cys151fs)Pathogenic
not provided
★☆☆☆2023→ Residue 151
NM_003839.4(TNFRSF11A):c.54C>A (p.Cys18Ter)Pathogenic
Autosomal recessive osteopetrosis 7
★☆☆☆2023→ Residue 18
NM_003839.4(TNFRSF11A):c.1266_1268delinsCC (p.Leu422fs)Likely pathogenic
not provided
★☆☆☆2023→ Residue 422
NM_003839.4(TNFRSF11A):c.396del (p.Glu132fs)Pathogenic
not provided
★☆☆☆2022→ Residue 132
NM_003839.4(TNFRSF11A):c.427+2T>GLikely pathogenic
not provided
★☆☆☆2022
NM_003839.4(TNFRSF11A):c.147A>C (p.Lys49Asn)Likely pathogenic
Autosomal recessive osteopetrosis 7
★☆☆☆2022→ Residue 49
NM_003839.4(TNFRSF11A):c.730G>T (p.Ala244Ser)Pathogenic
Autosomal recessive osteopetrosis 7
★☆☆☆2022→ Residue 244
View on ClinVar ↗
Related Genes
TNFProtein interaction100%TRAF3Protein interaction100%TRAF2Protein interaction98%TRAF5Protein interaction98%TRAF6Protein interaction98%TCIRG1Protein interaction96%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
28%
Heart
22%
Lung
21%
Liver
11%
Ovary
9%
Gene Interaction Network
Click a node to explore
TNFRSF11ATNFTRAF3TRAF2TRAF5TRAF6TCIRG1
PROTEIN STRUCTURE
Preparing viewer…
PDB1LB5 · 2.40 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.88LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.50–0.88]
RankingsWhere TNFRSF11A stands among ~20K protein-coding genes
  • #1,220of 20,598
    Most Researched293 · top 10%
  • #1,744of 5,498
    Most Pathogenic Variants32
  • #7,803of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedTNFRSF11A
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Osteoclast differentiation and activation.
PMID: 12748652
Nature · 2003
1.00
2
Mechanisms of bone metastasis.
PMID: 15084698
N Engl J Med · 2004
0.90
3
RANK drives structured intestinal epithelial expansion during pregnancy.
PMID: 39633049
Nature · 2025
0.80
4
Osteopetrosis.
PMID: 15625335
N Engl J Med · 2004
0.70
5
[Pathophysiology of osteoporosis].
PMID: 25427397
Reumatizam · 2014
0.68