RUNX2
Sign in to saveAlso 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
- Position
- 45,328,157–45,664,349 (+)
- Aliases
- AML3, CBF-alpha-1, CBFA1, CCD, CCD1, CLCD, OSF-2, OSF2, PEA2aA, PEBP2aA
- Ensembl
- ENSG00000124813
- RefSeq RNA
- NM_001015051.4, NM_001024630.4, NM_001278478.2, NM_001369405.1, NR_103532.2
- RefSeq protein
- NP_001015051.3, NP_001019801.3, NP_001265407.1, NP_001356334.1
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].
Gene Ontology
Biological process
Molecular function
Cellular component
Pathways
via MyGene.info
Gene · Ensembl
RUNX family transcription factor 2
- Symbol
- RUNX2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 6:45,328,157-45,664,349
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein RUNX2 PDB 1cmo.png
Show 8 more facts
- HomoloGene ID
- 68389
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/860
- genomic end
- 45632086
- genomic start
- 45295894
- chromosome
- human chromosome 6
- cytogenetic location
- 6p21.1
- expressed in
- blood
via Wikidata · CC0
~7 min read
Encyclopedic overview
12 sectionsContents
- 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.
Excerpted from Wikipedia’s “RUNX2” article, available under the CC BY-SA 4.0 licence.