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GeneQ14907085· pop 5· linked from 836 articles

Also known as AML3, CBF-alpha-1, CBFA1, CCD, CCD1, CLCD, OSF-2, OSF2

thumb|Oscillations of Runx2 mRNA levels. Runt-related transcription factor 2 (RUNX2) also known as core-binding factor subunit alpha-1 (CBF-alpha-1) is a protein that in humans is encoded by the RUNX2 gene. RUNX2 is a key transcription factor associated with osteoblast differentiation.

Gene data

RUNX2
Name
RUNX family transcription factor 2
Type
protein-coding
Aliases
AML3, CBF-alpha-1, CBFA1, CCD, CCD1, CLCD, OSF-2, OSF2, PEA2aA, PEBP2aA

This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein 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. Two regions of potential trinucleotide repeat expansions are present in the N-terminal region of the encoded protein, and these and other mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Jul 2016].

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Wikidata facts

Image
Protein RUNX2 PDB 1cmo.png
Show 5 more facts
HomoloGene ID
68389
genomic end
45632086
genomic start
45295894
cytogenetic location
6p21.1
Sources (6)

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~7 min read

Article

12 sections
Contents
  • Function
  • Osteoblast differentiation
  • Cell cycle regulation
  • Pathology
  • Cleidocranial dysplasia
  • Osteosarcoma
  • Regulation and co-factors
  • Interactions
  • See also
  • References
  • Further reading
  • External links

thumb|Oscillations of Runx2 mRNA levels. Runt-related transcription factor 2 (RUNX2) also known as core-binding factor subunit alpha-1 (CBF-alpha-1) is a protein that in humans is encoded by the RUNX2 gene. RUNX2 is a key transcription factor associated with osteoblast differentiation.

It has also been suggested that Runx2 plays a cell proliferation regulatory role in cell cycle entry and exit in osteoblasts, as well as endothelial cells. Runx2 suppresses pre-osteoblast proliferation by affecting cell cycle progression in the G1 phase. In osteoblasts, the levels of Runx2 is highest in G1 phase and is lowest in S, G2, and M. The comprehensive cell cycle regulatory mechanisms that Runx2 may play are still unknown, although it is generally accepted that the varying activity and levels of Runx2 throughout the cell cycle contribute to cell cycle entry and exit, as well as cell cycle progression. These functions are especially important when discussing bone cancer, particularly osteosarcoma development, that can be attributed to aberrant cell proliferation control.

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