TNFRSF11A

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012]

TNFRSF11A Gene(Protein Coding) TNF Receptor Superfamily Member 11a

Receptor for TNFSF11/RANKL/TRANCE/OPGL; essential for RANKL-mediated osteoclastogenesis. Involved in the regulation of interactions between T-cells and dendritic cells.

Biological Process adaptive immune response Source:BHF-UCL1 Publication
Biological Process cell-cell signaling Source:ProtInc1 Publication
Biological Process cellular response to zinc ion starvation Source:Ensembl
Biological Process circadian temperature homeostasis Source:BHF-UCLBy Similarity
Biological Process lymph node development Source:GO_Central1 Publication
Biological Process mammary gland alveolus development Source:GO_Central1 Publication
Biological Process monocyte chemotaxis Source:BHF-UCL1 Publication
Biological Process multinuclear osteoclast differentiation Source:GO_Central1 Publication
Biological Process ossification Source:GO_Central1 Publication
Biological Process osteoclast differentiation Source:BHF-UCL1 Publication
Biological Process positive regulation of bone resorption Source:GO_Central1 Publication
Biological Process positive regulation of cell population proliferation Source:ProtInc1 Publication
Biological Process positive regulation of DNA-binding transcription factor activity Source:BHF-UCL1 Publication
Biological Process positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling Source:BHF-UCL1 Publication
Biological Process positive regulation of fever generation by positive regulation of prostaglandin secretion Source:BHF-UCLBy Similarity
Biological Process positive regulation of JUN kinase activity Source:BHF-UCL1 Publication
Biological Process positive regulation of NF-kappaB transcription factor activity Source:BHF-UCL1 Publication
Biological Process response to cytokine Source:BHF-UCL1 Publication
Biological Process response to ethanol Source:Ensembl
Biological Process response to insulin Source:Ensembl
Biological Process response to interleukin-1 Source:BHF-UCLBy Similarity
Biological Process response to lipopolysaccharide Source:BHF-UCLBy Similarity
Biological Process response to mechanical stimulus Source:Ensembl
Biological Process response to organic cyclic compound Source:Ensembl
Biological Process response to radiation Source:Ensembl
Biological Process response to tumor necrosis factor Source:BHF-UCLBy Similarity
Biological Process signal transduction Source:ProtInc1 Publication
Biological Process TNFSF11-mediated signaling pathway Source:BHF-UCL1 Publication
Biological Process tumor necrosis factor-mediated signaling pathway Source:BHF-UCLBy Similarity

Isoform 1
Cell membrane
Isoform RANK-e5a
Cell membrane

Familial expansile osteolysis (FEO):
Rare autosomal dominant bone disorder characterized by focal areas of increased bone remodeling. The osteolytic lesions develop usually in the long bones during early adulthood. FEO is often associated with early-onset deafness and loss of dentition.
Paget disease of bone 2, early-onset (PDB2):
A form of Paget disease, a disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone.
Osteopetrosis, autosomal recessive 7 (OPTB7):
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. OPTB7 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development. OPTB7 is associated with hypogammaglobulinemia.

Extracellular: 30-212
Helical: 213-233
Cytoplasmic: 234-616