RUNX2 binds CBFB

Stable Identifier
R-HSA-8865425
Type
Reaction [binding]
Species
Homo sapiens
Compartment
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RUNX2 (CBFA1 or AML3) forms a complex with CBFB. RUNX2 gene mutations are the cause of cleidocranial dysplasia and some of the mutations are predicted to affect RUNX2 interaction with CBFB (Otto et al. 1997, Lee et al. 1997, Otto et al. 2002). In mouse cleidocranial dysplasia models, the physical and functional interaction between Runx2 and Cbfb was demonstrated to play a critical role in bone development (Kundu et al. 2002, Yoshida et al. 2002, Chen et al. 2014).

Literature References
PubMed ID Title Journal Year
9182764 Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development

Otto, F, Thornell, AP, Crompton, T, Denzel, A, Gilmour, KC, Rosewell, IR, Stamp, GW, Beddington, RS, Mundlos, S, Olsen, BR, Selby, PB, Owen, MJ

Cell 1997
12434152 Core-binding factor beta interacts with Runx2 and is required for skeletal development

Yoshida, CA, Furuichi, T, Fujita, T, Fukuyama, R, Kanatani, N, Kobayashi, S, Satake, M, Takada, K, Komori, T

Nat. Genet. 2002
24850862 Cbfβ deletion in mice recapitulates cleidocranial dysplasia and reveals multiple functions of Cbfβ required for skeletal development

Chen, W, Ma, J, Zhu, G, Jules, J, Wu, M, McConnell, M, Tian, F, Paulson, C, Zhou, X, Wang, L, Li, YP

Proc. Natl. Acad. Sci. U.S.A. 2014
11857736 Mutations in the RUNX2 gene in patients with cleidocranial dysplasia

Otto, F, Kanegane, H, Mundlos, S

Hum. Mutat. 2002
9207800 Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia

Lee, B, Thirunavukkarasu, K, Zhou, L, Pastore, L, Baldini, A, Hecht, J, Geoffroy, V, Ducy, P, Karsenty, G

Nat. Genet. 1997
12434156 Cbfbeta interacts with Runx2 and has a critical role in bone development

Kundu, M, Javed, A, Jeon, JP, Horner, A, Shum, L, Eckhaus, M, Muenke, M, Lian, JB, Yang, Y, Nuckolls, GH, Stein, GS, Liu, PP

Nat. Genet. 2002
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