TNFSF11 binds TNFRSF11A, B

Stable Identifier
R-HSA-5669035
Type
Reaction
Species
Homo sapiens
Compartment
Synonyms
RANKL binds OPG
Locations in the PathwayBrowser
Summation

Tumor necrosis factor ligand superfamily member 11 (TNFSF11 aka osteoclast differentiation factor, ODF) is a cytokine that is involved in the regulation of bone remodeling and playing multiple roles in the immune system. Its effects are mediated by its binding to tumor necrosis factor receptor superfamily members TNFRSF11A (aka RANK) (Nakagawa et al. 1998) and TNFRSF11B (aka OPG) (Luan et al. 2012).

Defects in TNFSF11 can cause autosomal recessive osteopetrosis 2 (OPTB2; MIM:259710), characterised by abnormally dense bone due to defective resorption of immature bone (Sobacchi et al. 2007). Defects in TNFRSF11A and B cause bone remodelling/osteopathy disorders (Hughes et al. 2000, Guerrini et al. 2008, Cundy et al. 2002).

Literature References
PubMed ID Title Journal Year
18606301 Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations

Guerrini, MM, Sobacchi, C, Cassani, B, Abinun, M, Kilic, SS, Pangrazio, A, Moratto, D, Mazzolari, E, Clayton-Smith, J, Orchard, P, Coxon, FP, Helfrich, MH, Crockett, JC, Mellis, D, Vellodi, A, Tezcan, I, Notarangelo, LD, Rogers, MJ, Vezzoni, P, Villa, A, Frattini, A

Am. J. Hum. Genet. 2008
9878548 RANK is the essential signaling receptor for osteoclast differentiation factor in osteoclastogenesis

Nakagawa, N, Kinosaki, M, Yamaguchi, K, Shima, N, Yasuda, H, Yano, K, Morinaga, T, Higashio, K

Biochem. Biophys. Res. Commun. 1998
22664871 Crystal structure of human RANKL complexed with its decoy receptor osteoprotegerin

Luan, X, Lu, Q, Jiang, Y, Zhang, S, Wang, Q, Yuan, H, Zhao, W, Wang, J, Wang, X

J. Immunol. 2012
17632511 Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL

Sobacchi, C, Frattini, A, Guerrini, MM, Abinun, M, Pangrazio, A, Susani, L, Bredius, R, Mancini, G, Cant, A, Bishop, N, Grabowski, P, Del Fattore, A, Messina, C, Errigo, G, Coxon, FP, Scott, DI, Teti, A, Rogers, MJ, Vezzoni, P, Villa, A, Helfrich, MH

Nat. Genet. 2007
10615125 Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis

Hughes, AE, Ralston, SH, Marken, J, Bell, C, MacPherson, H, Wallace, RG, Van Hul, W, Whyte, MP, Nakatsuka, K, Hovy, L, Anderson, DM

Nat. Genet. 2000
12189164 A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype

Cundy, T, Hegde, M, Naot, D, Chong, B, King, A, Wallace, R, Mulley, J, Love, DR, Seidel, J, Fawkner, M, Banovic, T, Callon, KE, Grey, AB, Reid, IR, Middleton-Hardie, CA, Cornish, J

Hum. Mol. Genet. 2002
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