TNFSF11

TNF superfamily member 11

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]

Known Variants211 total

rsidPosition (GRCh37)AllelesClassClinVar
rs453163113:43,135,131A/Gupstream gene variant—
rs1258501413:43,140,559G/Aintron variant—
rs1753632813:43,143,029C/Tintron variant—
rs798833813:43,144,842G/Aupstream gene variant—
rs798487013:43,146,482G/Cupstream gene variant—
rs953315513:43,147,621C/Gupstream gene variant—
rs953315613:43,147,671T/Cupstream gene variant—
rs952564113:43,148,024T/Cregulatory region variantbenign
rs187317741113:43,148,293C/T—uncertain significance
rs20185922013:43,148,296G/C—uncertain significance
rs4546849513:43,148,299C/T—likely benign
rs953315713:43,148,313C/G—benign
rs187318120413:43,148,336C/T—uncertain significance
rs19981839313:43,148,346C/T—uncertain significance
rs20064752613:43,148,359C/A—uncertain significance
rs56961561613:43,148,366C/T—uncertain significance
rs88605025113:43,148,376C/G—uncertain significance
rs99846338113:43,148,433G/C—uncertain significance
rs78118550613:43,148,436C/T—uncertain significance
rs20119921113:43,148,441T/G—uncertain significance
rs213785219913:43,148,442G/A—uncertain significance
rs132385316713:43,148,448C/A—likely benign
rs95382990113:43,148,452A/G—uncertain significance
rs77527051313:43,148,455A/G—uncertain significance
rs76297234913:43,148,463C/T—likely benign
rs213785226813:43,148,467A/G—uncertain significance
rs86845331213:43,148,469G/C—uncertain significance
rs101803304913:43,148,476C/G—uncertain significance
rs20012187113:43,148,484G/A—likely benign
rs187319462013:43,148,486A/G—uncertain significance
rs213785236813:43,148,492T/A—uncertain significance
rs138965700113:43,148,497G/A—uncertain significance
rs187319589613:43,148,499C/T—likely benign
rs139913023213:43,148,505C/G—likely benign
rs97267166113:43,148,511C/A—likely benign
rs76669480013:43,148,514G/A—likely benign
rs124261677913:43,148,517C/T—likely benign
rs75497929613:43,148,518G/C—uncertain significance
rs20078856213:43,148,519A/G—benign
rs98272628113:43,148,520G/C—uncertain significance
rs20165239913:43,148,522G/A—uncertain significance
rs77805394613:43,148,523C/G—likely benign
rs147149884113:43,148,531A/T—uncertain significance
rs20025096213:43,148,537C/A—conflicting classifications of pathogenicity
rs133337297513:43,148,538G/A—likely benign
rs19955875813:43,148,540C/A—uncertain significance
rs76914000013:43,148,541G/A—likely benign
rs13881887813:43,148,546C/G—likely benign
rs123851741313:43,148,549C/G—uncertain significance
rs76169552713:43,148,553G/T—likely benign
rs75283746113:43,148,564C/G—uncertain significance
rs229653313:43,148,565T/C—benign
rs139995351013:43,148,571C/T—likely benign
rs37478795413:43,148,577C/A—likely benign
rs75760040113:43,148,579C/T—uncertain significance
rs75000654713:43,148,582T/A—uncertain significance
rs6173553513:43,148,586C/T—benign
rs77937105613:43,148,587G/A—uncertain significance
rs250069424113:43,148,591C/T—uncertain significance
rs88967942913:43,148,593C/G—uncertain significance
rs57529817613:43,148,604G/A—likely benign
rs103897085413:43,148,608C/T—likely benign
rs76834398913:43,148,622C/A—likely benign
rs125815843013:43,148,625C/T—likely benign
rs250069444613:43,148,627G/A—uncertain significance
rs101089508013:43,148,632G/T—uncertain significance
rs187321041513:43,148,641T/C—uncertain significance
rs74814307213:43,148,645A/G—uncertain significance
rs54439001813:43,148,647T/C—uncertain significance
rs14275698313:43,148,653G/A—conflicting classifications of pathogenicity
rs213785295413:43,148,658G/A—uncertain significance
rs19005344113:43,148,674C/T—benign
rs76421262413:43,148,678G/C—likely benign
rs959478213:43,151,186T/Cintron variant—
rs11754332413:43,153,869A/Tintron variant—
rs953315913:43,154,959T/G—benign
rs227743813:43,155,168G/Aintron variantbenign
rs74681663913:43,155,251C/T—likely benign
rs20183218013:43,155,253C/T—likely benign
rs76318884513:43,155,255T/C—likely benign
rs13897466113:43,155,281C/T—likely benign
rs124364670013:43,155,288T/C—likely benign
rs19991058213:43,155,296A/T—uncertain significance
rs74744963313:43,155,305A/G—uncertain significance
rs250071203713:43,155,310A/G—uncertain significance
rs75095525613:43,155,333A/C—likely benign
rs76106689313:43,155,334G/C—uncertain significance
rs250071228913:43,155,348A/G—likely benign
rs36947996913:43,155,350C/T—uncertain significance
rs18404703113:43,155,366T/C—likely benign
rs74697131113:43,155,368C/T—uncertain significance
rs13945134013:43,155,386C/T—uncertain significance
rs213786704913:43,155,392G/A—uncertain significance
rs20088769713:43,155,395G/T—uncertain significance
rs20159659613:43,155,396A/G—likely benign
rs250071283813:43,155,430G/A—uncertain significance
rs250071287213:43,155,436C/T—likely benign
rs227743913:43,155,443G/Aintron variantbenign
rs213786727813:43,155,448T/C—likely benign
rs250071297013:43,155,449G/A—likely benign

Showing 100 of 211 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.