Gene: TNFSF11

Alternate names for this Gene: CD254|ODF|OPGL|OPTB2|RANKL|TNLG6B|TRANCE|hRANKL2|sOdf

Gene 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.

Gene is located in Chromosome: 13

Location in Chromosome : 13q14.11

Description of this Gene: TNF superfamily member 11

Type of Gene: protein-coding

rs17536328 in TNFSF11 gene and Bone Density PMID 24945404 2014 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.

rs1022926 in TNFSF11 gene and Bone Mineral Density Test PMID 21124946 2010 Genome-wide association meta-analysis of cortical bone mineral density unravels allelic heterogeneity at the RANKL locus and potential pleiotropic effects on bone.

rs9943924 in TNFSF11 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs121909072 in TNFSF11 gene and Osteopetrosis, mild autosomal recessive form PMID 17632511 2007 Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.

rs9943924 in TNFSF11 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.