TNFSF11 Chromosome 13
TNF superfamily member 11
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What This Gene Does
This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dendritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. [provided by RefSeq, Mar 2026]
Gene Info
Gene Group
"CD molecules|Tumor necrosis factor superfamily"
Locus Type
gene with protein product
Location
13q14.11
Ensembl
ENSG00000120659
Associated Conditions (3)
Autosomal recessive osteopetrosis 2
TNFSF11-related disorder
Inborn genetic diseases
Key Variants
RS142756983
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 2, TNFSF11-related disorder, Autosomal recessive osteopetrosis 2
Health Risk
RS146484645
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 2, TNFSF11-related disorder, Autosomal recessive osteopetrosis 2
Health Risk
RS151215329
Conflicting classifications of pathogenicity
Health Risk
RS1869458758
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2
Health Risk
RS189501562
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2
Health Risk
RS200250962
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2
Health Risk
RS746313384
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 2, Inborn genetic diseases, Autosomal recessive osteopetrosis 2
Health Risk
RS770524066
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2
Health Risk
RS775866494
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2
Health Risk
RS267603829
Likely pathogenic
Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2
Health Risk
RS121909072
Pathogenic
Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2
Health Risk
RS2137905441
Pathogenic
Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142756983 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 2, TNFSF11-related disorder, Autosomal recessive osteopetrosis 2 |
| RS146484645 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 2, TNFSF11-related disorder, Autosomal recessive osteopetrosis 2 |
| RS151215329 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1869458758 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2 |
| RS189501562 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2 |
| RS200250962 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2 |
| RS746313384 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 2, Inborn genetic diseases, Autosomal recessive osteopetrosis 2 |
| RS770524066 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2 |
| RS775866494 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2 |
| RS267603829 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2 |
| RS121909072 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2 |
| RS2137905441 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2 |
| RS2137916719 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2 |
| RS863223288 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2 |