TNFSF11 TNF superfamily member 11
Gene ID: 8600, updated on 19-Sep-2024Gene type: protein coding
Also known as: ODF; OPGL; sOdf; CD254; OPTB2; RANKL; TNLG6B; TRANCE; hRANKL2
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- Go to complete Gene record for TNFSF11
- Go to Variation Viewer for TNFSF11 variants
Summary
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 dentritic 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. Two alternatively spliced transcript variants have been found. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal recessive osteopetrosis 2 | See labs |
| Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure. GeneReviews: Not available | |
| Genome-wide association meta-analysis of cortical bone mineral density unravels allelic heterogeneity at the RANKL locus and potential pleiotropic effects on bone. GeneReviews: Not available | |
| Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk. GeneReviews: Not available | |
| Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. GeneReviews: Not available | |
| Multiple genetic loci for bone mineral density and fractures. GeneReviews: Not available | |
| Multistage genome-wide association meta-analyses identified two new loci for bone mineral density. GeneReviews: Not available | |
| New sequence variants associated with bone mineral density. GeneReviews: Not available | |
| New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis. GeneReviews: Not available | |
| Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. GeneReviews: Not available | |
| WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk. GeneReviews: Not available |
Genomic context
- Location:
- 13q14.11
- Sequence:
- Chromosome: 13; NC_000013.11 (42562736..42608013)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TNFSF11 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TNFSF11 database
- Variation ViewerRelated Variants
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