TNFSF11
entrez
8600
canonical
uniprot
O14788
canonical
ensembl
ENSG00000120659
resolver
ensp
ENSP00000351347
resolver
ensp
ENSP00000381775
resolver
genesymbol
TNFSF11
resolver
genesymbol
hRANKL 3
resolver
genesymbol_syn
OPGL
resolver
genesymbol_syn
RANKL
resolver
genesymbol_syn
TNFSF11
resolver
genesymbol_syn
TNLG6B
resolver
genesymbol_syn
TRANCE
resolver
hgnc
HGNC:11926
resolver
uniprot
O14723
resolver
uniprot
Q54A98
resolver
uniprot
Q5T9Y4
resolver
uniprot
Q96Q17
resolver
uniprot
Q9P2Q3
resolver
uniprot_entry
Q54A98_HUMAN
resolver
uniprot_entry
Q5T9Y4_HUMAN
resolver
uniprot_entry
TNF11_HUMAN
resolver
uniprot_sec
O14723
resolver
uniprot_sec
Q96Q17
resolver
uniprot_sec
Q9P2Q3
resolver
amino_acid_sequence
MRRASRDYTKYLRGSEEMGGGPGAPHEGPLHAPPPPAPHQPPAASRSMFVALLGLGLGQVVCSVALFFYFRAQMDPNRISEDGTHCIYRILRLHENADFQDTTLESQDTKLIPDSCRRIKQAFQGAVQKELQHIVGSQHIRAEKAMVDGSWLDLAKRSKLEAQPFAHLTINATDIPSGSHKVSLSSWYHDRGWAKISNMTFSNGKLIVNQDGFYYLYANICFRHHETSGDLATEYLQLMVYVTKTSIKIPSSHTLMKGGSTKYWSGNSEFHFYSINVGGFFKLRSGEEISIEVSNPSLLDPDQDATYFGAFKVRDID
uniprot
proteins
disease_involvement
DISEASE: Osteopetrosis, autosomal recessive 2 (OPTB2) [MIM:259710]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB2 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development. {ECO:0000269|PubMed:17632511}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Cytokine that binds to TNFRSF11B/OPG and to TNFRSF11A/RANK. Osteoclast differentiation and activation factor. Augments the ability of dendritic cells to stimulate naive T-cell proliferation. May be an important regulator of interactions between T-cells and dendritic cells and may play a role in the regulation of the T-cell-dependent immune response. May also play an important role in enhanced bone-resorption in humoral hypercalcemia of malignancy (PubMed:22664871). Induces osteoclastogenesis by activating multiple signaling pathways in osteoclast precursor cells, chief among which is induction of long lasting oscillations in the intracellular concentration of Ca (2+) resulting in the activation of NFATC1, which translocates to the nucleus and induces osteoclast-specific gene transcription to allow differentiation of osteoclasts. During osteoclast differentiation, in a TMEM64 and ATP2A2-dependent manner induces activation of CREB1 and mitochondrial ROS generation necessary for proper osteoclast generation (By similarity). {ECO:0000250|UniProtKB:O35235, ECO:0000269|PubMed:22664871}.
uniprot
proteins
mass_dalton
35478
uniprot
proteins
mutagenesis
MUTAGEN 223; /note="R->A: Reduces affinity for TNFRSF11B."; /evidence="ECO:0000269|PubMed:22664871"; MUTAGEN 257; /note="K->A: Reduces affinity for TNFRSF11B."; /evidence="ECO:0000269|PubMed:22664871
uniprot
proteins
post_translational_modification
PTM: The soluble form of isoform 1 derives from the membrane form by proteolytic processing (By similarity). The cleavage may be catalyzed by ADAM17. {ECO:0000250}.
uniprot
proteins
protein_family
Tumor necrosis factor family
uniprot
proteins
pubmed
10708588
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17632511
uniprot
proteins
pubmed
22664871
uniprot
proteins
pubmed
9312132
uniprot
proteins
pubmed
9367155
uniprot
proteins
pubmed
9568710
uniprot
proteins
sequence_length
317
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane; Single-pass type II membrane protein.; SUBCELLULAR LOCATION: [Isoform 3]: Cell membrane; Single-pass type II membrane protein.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000250}.; SUBCELLULAR LOCATION: [Tumor necrosis factor ligand superfamily member 11, soluble form]: Secreted {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 48..68; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins