Reactome | RUNX2 binds CBFB

RUNX2 binds CBFB

Stable Identifier

R-HSA-8865425

Type

Reaction [binding]

Species

Homo sapiens

Compartment

nucleoplasm

ReviewStatus

5/5

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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
12434152	Core-binding factor beta interacts with Runx2 and is required for skeletal development Kanatani, N, Fujita, T, Komori, T, Satake, M, Takada, K, Yoshida, CA, Fukuyama, R, Kobayashi, S, Furuichi, T	Nat. Genet.	2002
9182764	Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development Rosewell, IR, Owen, MJ, Mundlos, S, Otto, F, Thornell, AP, Stamp, GW, Beddington, RS, Selby, PB, Gilmour, KC, Denzel, A, Olsen, BR, Crompton, T	Cell	1997
24850862	Cbfβ deletion in mice recapitulates cleidocranial dysplasia and reveals multiple functions of Cbfβ required for skeletal development Chen, W, Ma, J, Wang, L, Jules, J, Tian, F, Zhou, X, Wu, M, McConnell, M, Li, YP, Paulson, C, Zhu, G	Proc. Natl. Acad. Sci. U.S.A.	2014
11857736	Mutations in the RUNX2 gene in patients with cleidocranial dysplasia Mundlos, S, Otto, F, Kanegane, H	Hum. Mutat.	2002
9207800	Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia Geoffroy, V, Hecht, J, Karsenty, G, Pastore, L, Ducy, P, Zhou, L, Thirunavukkarasu, K, Baldini, A, Lee, B	Nat. Genet.	1997
12434156	Cbfbeta interacts with Runx2 and has a critical role in bone development Muenke, M, Jeon, JP, Liu, PP, Yang, Y, Horner, A, Javed, A, Shum, L, Lian, JB, Kundu, M, Stein, GS, Eckhaus, M, Nuckolls, GH	Nat. Genet.	2002