TNFRSF11B Chromosome 8
TNF receptor superfamily member 11b
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What This Gene Does
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]
Gene Info
Gene Group
Tumor necrosis factor receptor superfamily
Locus Type
gene with protein product
Location
8q24.12
Ensembl
ENSG00000164761
Associated Conditions (3)
Hyperphosphatasemia with bone disease
TNFRSF11B-related disorder
Inborn genetic diseases
Key Variants
RS143414212
Conflicting classifications of pathogenicity
Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease
Health Risk
RS144654126
Conflicting classifications of pathogenicity
Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease
Health Risk
RS146450643
Conflicting classifications of pathogenicity
TNFRSF11B-related disorder, TNFRSF11B-related disorder
Health Risk
RS373848556
Conflicting classifications of pathogenicity
Hyperphosphatasemia with bone disease, Inborn genetic diseases, Hyperphosphatasemia with bone disease
Health Risk
RS376708982
Conflicting classifications of pathogenicity
Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease
Health Risk
RS4876870
Conflicting classifications of pathogenicity
Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease
Health Risk
RS1355555142
Likely pathogenic
Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease
Health Risk
RS786205594
Likely pathogenic
Health Risk
RS104894091
Pathogenic
Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease
Health Risk
RS1201638030
Pathogenic
Health Risk
RS1292670477
Pathogenic
Health Risk
RS1307942060
Pathogenic
Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143414212 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease |
| RS144654126 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease |
| RS146450643 | Health Risk | Conflicting classifications of pathogenicity | TNFRSF11B-related disorder, TNFRSF11B-related disorder |
| RS373848556 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasemia with bone disease, Inborn genetic diseases, Hyperphosphatasemia with bone disease |
| RS376708982 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease |
| RS4876870 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease |
| RS1355555142 | Health Risk | Likely pathogenic | Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease |
| RS786205594 | Health Risk | Likely pathogenic | — |
| RS104894091 | Health Risk | Pathogenic | Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease |
| RS1201638030 | Health Risk | Pathogenic | — |
| RS1292670477 | Health Risk | Pathogenic | — |
| RS1307942060 | Health Risk | Pathogenic | Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease |
| RS200071478 | Health Risk | Pathogenic | Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease |
| RS2129877362 | Health Risk | Pathogenic | — |
| RS2129878039 | Health Risk | Pathogenic | Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease |
| RS796051868 | Health Risk | Pathogenic | Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease |