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Runt-related transcription factor 2

PDB rendering based on 1cmo.
Available structures
1cmo, 1co1, 1e50, 1h9d, 1hjb, 1hjc, 1io4, 1ljm
Identifiers
Symbols RUNX2; AML3; CBFA1; CCD; CCD1; MGC120022; MGC120023; OSF2; PEA2aA; PEBP2A1; PEBP2A2; PEBP2aA; PEBP2aA1
External IDs OMIM600211 MGI99829 HomoloGene68389 GeneCards: RUNX2 Gene
RNA expression pattern
PBB GE RUNX2 216994 s at tn.png
PBB GE RUNX2 221282 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 860 12393
Ensembl ENSG00000124813 ENSMUSG00000039153
UniProt Q13950 Q08775
RefSeq (mRNA) NM_001015051 NM_009820
RefSeq (protein) NP_001015051 NP_033950
Location (UCSC) Chr 6:
45.4 - 45.63 Mb
Chr 17:
44.07 - 44.2 Mb
PubMed search [1] [2]

Cbfa1/Runx2 is a key transcription factor associated with osteoblast differentiation.

This protein is a member of the RUNX family of transcription factors and has a Runt DNA-binding domain. It is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Transcript variants of the gene that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing.[1]

Contents

Pathology

Mutations in Cbfa1/Runx2 are associated with the disease Cleidocranial dysostosis.

Interactions

RUNX2 has been shown to interact with STUB1,[2] MYST4,[3] HDAC3,[4] C-jun,[5][6] Mothers against decapentaplegic homolog 3,[7][8] Mothers against decapentaplegic homolog 1[7][8] and C-Fos.[5][6]

See also

References

  1. ^ "Entrez Gene: RUNX2 runt-related transcription factor 2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=860.  
  2. ^ Li, Xueni; Huang Mei, Zheng Huiling, Wang Yinyin, Ren Fangli, Shang Yu, Zhai Yonggong, Irwin David M, Shi Yuguang, Chen Di, Chang Zhijie (Jun. 2008). "CHIP promotes Runx2 degradation and negatively regulates osteoblast differentiation". J. Cell Biol. (United States) 181 (6): 959–72. doi:10.1083/jcb.200711044. PMID 18541707.  
  3. ^ Pelletier, Nadine; Champagne Nathalie, Stifani Stefano, Yang Xiang-Jiao (Apr. 2002). "MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2". Oncogene (England) 21 (17): 2729–40. doi:10.1038/sj.onc.1205367. ISSN 0950-9232. PMID 11965546.  
  4. ^ Schroeder, Tania M; Kahler Rachel A, Li Xiaodong, Westendorf Jennifer J (Oct. 2004). "Histone deacetylase 3 interacts with runx2 to repress the osteocalcin promoter and regulate osteoblast differentiation". J. Biol. Chem. (United States) 279 (40): 41998–2007. doi:10.1074/jbc.M403702200. ISSN 0021-9258. PMID 15292260.  
  5. ^ a b Hess, J; Porte D, Munz C, Angel P (Jun. 2001). "AP-1 and Cbfa/runt physically interact and regulate parathyroid hormone-dependent MMP13 expression in osteoblasts through a new osteoblast-specific element 2/AP-1 composite element". J. Biol. Chem. (United States) 276 (23): 20029–38. doi:10.1074/jbc.M010601200. ISSN 0021-9258. PMID 11274169.  
  6. ^ a b D'Alonzo, Richard C; Selvamurugan Nagarajan, Karsenty Gerard, Partridge Nicola C (Jan. 2002). "Physical interaction of the activator protein-1 factors c-Fos and c-Jun with Cbfa1 for collagenase-3 promoter activation". J. Biol. Chem. (United States) 277 (1): 816–22. doi:10.1074/jbc.M107082200. ISSN 0021-9258. PMID 11641401.  
  7. ^ a b Zhang, Y W; Yasui N, Ito K, Huang G, Fujii M, Hanai J, Nogami H, Ochi T, Miyazono K, Ito Y (Sep. 2000). "A RUNX2/PEBP2alpha A/CBFA1 mutation displaying impaired transactivation and Smad interaction in cleidocranial dysplasia". Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 97 (19): 10549–54. doi:10.1073/pnas.180309597. ISSN 0027-8424. PMID 10962029.  
  8. ^ a b Hanai, J; Chen L F, Kanno T, Ohtani-Fujita N, Kim W Y, Guo W H, Imamura T, Ishidou Y, Fukuchi M, Shi M J, Stavnezer J, Kawabata M, Miyazono K, Ito Y (Oct. 1999). "Interaction and functional cooperation of PEBP2/CBF with Smads. Synergistic induction of the immunoglobulin germline Calpha promoter". J. Biol. Chem. (UNITED STATES) 274 (44): 31577–82. ISSN 0021-9258. PMID 10531362.  

Further reading

  • Otto F, Kanegane H, Mundlos S (2002). "Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.". Hum. Mutat. 19 (3): 209–16. doi:10.1002/humu.10043. PMID 11857736.  
  • Komori T (2002). "[Cbfa1/Runx2, an essential transcription factor for the regulation of osteoblast differentiation]". Nippon Rinsho 60 Suppl 3: 91–7. PMID 11979975.  
  • Stock M, Otto F (2005). "Control of RUNX2 isoform expression: the role of promoters and enhancers.". J. Cell. Biochem. 95 (3): 506–17. doi:10.1002/jcb.20471. PMID 15838892.  
  • Blyth K, Cameron ER, Neil JC (2005). "The RUNX genes: gain or loss of function in cancer.". Nat. Rev. Cancer 5 (5): 376–87. doi:10.1038/nrc1607. PMID 15864279.  
  • Schroeder TM, Jensen ED, Westendorf JJ (2005). "Runx2: a master organizer of gene transcription in developing and maturing osteoblasts.". Birth Defects Res. C Embryo Today 75 (3): 213–25. doi:10.1002/bdrc.20043. PMID 16187316.  

External links

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