Tumor Necrosis Factor Receptor Superfamily Member 11a Protein (TNFRSF11A) Human Active Protein

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: Receptor for TNFSF11/RANKL/TRANCE/OPGL; essential for RANKL-mediated osteoclastogenesis. Involved in the regulation of interactions between T-cells and dendritic cells. Binds to the clefts between the subunits of the TNFSF11 ligand trimer to form a heterohexamer. Interacts with TRAF1, TRAF2, TRAF3, TRAF5 and TRAF6. Interacts (via cytoplasmic domain) with GAB2. Ubiquitous expression with high levels in skeletal muscle, thymus, liver, colon, small intestine and adrenal gland.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 18q21.33

Cellular Component: cytosol; external side of plasma membrane; integral to plasma membrane; plasma membrane

Molecular Function: cytokine binding; protein binding; receptor activity; transmembrane receptor activity; tumor necrosis factor receptor activity

Biological Process: activation of NF-kappaB transcription factor; adaptive immune response; cell-cell signaling; circadian thermoregulation; inflammatory response; osteoclast differentiation; positive regulation of cell proliferation; positive regulation of JNK activity; positive regulation of transcription factor activity; regulation of apoptosis; response to cytokine stimulus; response to lipopolysaccharide; signal transduction; tumor necrosis factor-mediated signaling pathway

Disease: Familial Expansile Osteolysis; Osteopetrosis, Autosomal Recessive 7; Paget Disease Of Bone