Human Gene TNFRSF11B (ENST00000297350.9) from GENCODE V44
Description: Homo sapiens TNF receptor superfamily member 11b (TNFRSF11B), mRNA. (from RefSeq NM_002546) RefSeq Summary (NM_002546): The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is an osteoblast-secreted decoy receptor that functions as a negative regulator of bone resorption. This protein specifically binds to its ligand, osteoprotegerin ligand, both of which are key extracellular regulators of osteoclast development. Studies of the mouse counterpart also suggest that this protein and its ligand play a role in lymph-node organogenesis and vascular calcification. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000297350.9 Gencode Gene: ENSG00000164761.9 Transcript (Including UTRs) Position: hg38 chr8:118,923,557-118,951,885 Size: 28,329 Total Exon Count: 5 Strand: - Coding Region Position: hg38 chr8:118,924,374-118,951,821 Size: 27,448 Coding Exon Count: 5
ID:TR11B_HUMAN DESCRIPTION: RecName: Full=Tumor necrosis factor receptor superfamily member 11B; AltName: Full=Osteoclastogenesis inhibitory factor; AltName: Full=Osteoprotegerin; Flags: Precursor; FUNCTION: Acts as decoy receptor for TNFSF11/RANKL and thereby neutralizes its function in osteoclastogenesis. Inhibits the activation of osteoclasts and promotes osteoclast apoptosis in vitro. Bone homeostasis seems to depend on the local ratio between TNFSF11 and TNFRSF11B. May also play a role in preventing arterial calcification. May act as decoy receptor for TNFSF10/TRAIL and protect against apoptosis. TNFSF10/TRAIL binding blocks the inhibition of osteoclastogenesis. SUBUNIT: Homodimer. Interacts with TNFSF10 and TNFSF11. SUBCELLULAR LOCATION: Secreted. TISSUE SPECIFICITY: Highly expressed in adult lung, heart, kidney, liver, spleen, thymus, prostate, ovary, small intestine, thyroid, lymph node, trachea, adrenal gland, testis, and bone marrow. Detected at very low levels in brain, placenta and skeletal muscle. Highly expressed in fetal kidney, liver and lung. INDUCTION: Up-regulated by increasing calcium-concentration in the medium and estrogens. Down-regulated by glucocorticoids. PTM: N-glycosylated. Contains sialic acid residues. PTM: The N-terminus is blocked. DISEASE: Defects in TNFRSF11B are the cause of juvenile Paget disease (JPD) [MIM:239000]; also known as hyperostosis corticalis deformans juvenilis or hereditary hyperphosphatasia or chronic congenital idiopathic hyperphosphatasia. JPD is a rare autosomal recessive osteopathy that presents in infancy or early childhood. The disorder is characterized by rapidly remodeling woven bone, osteopenia, debilitating fractures, and deformities due to a markedly accelerated rate of bone remodeling throughout the skeleton. Approximately 40 cases of JPD have been reported worldwide. Unless it is treated with drugs that block osteoclast- mediated skeletal resorption, the disease can be fatal. SIMILARITY: Contains 2 death domains. SIMILARITY: Contains 4 TNFR-Cys repeats. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TNFRSF11BID42610ch8q24.html"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tnfrsf11b/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O00300
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0001501 skeletal system development GO:0006915 apoptotic process GO:0006954 inflammatory response GO:0006955 immune response GO:0007165 signal transduction GO:0007584 response to nutrient GO:0010035 response to inorganic substance GO:0010469 regulation of receptor activity GO:0030198 extracellular matrix organization GO:0032026 response to magnesium ion GO:0032496 response to lipopolysaccharide GO:0033209 tumor necrosis factor-mediated signaling pathway GO:0042127 regulation of cell proliferation GO:0042489 negative regulation of odontogenesis of dentin-containing tooth GO:0042493 response to drug GO:0042981 regulation of apoptotic process GO:0043627 response to estrogen GO:0045779 negative regulation of bone resorption GO:0046685 response to arsenic-containing substance GO:0097190 apoptotic signaling pathway
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