Runt Related Transcription Factor 2 (RUNX2)

AML3; CBFA1; CCD1; OSF2; PEBP2A; Acute myeloid leukemia 3 ; Core-binding factor alpha-1; Osteoblast-specific transcription factor 2; Polyomavirus enhancer-binding protein 2 A

SPN	V801
HGNC	10472
MGI	99829
PubMed	16166639
RGD	2282
UniProt	Q13950
Wiki	Runx2

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.The RUNX2 transcription factor is the master regulator of osteoblast differentiation is required for chondrocyte hypertrophy .

Reference

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Mamm. Genome 9:54-57(1998) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and analysis of human chromosome 6."
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]

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Gene 214:187-197(1998) [PubMed] [Europe PMC] [Abstract]

"The cDNA cloning of the transcripts of human PEBP2alphaA/CBFA1 mapped to 6p12.3-p21.1, the locus for cleidocranial dysplasia."
Oncogene 15:367-371(1997) [PubMed] [Europe PMC] [Abstract]

"Regulation of osteocalcin gene expression by a novel Ku antigen transcription factor complex."
J. Biol. Chem. 277:37280-37291(2002) [PubMed] [Europe PMC] [Abstract]

"MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2."
Oncogene 21:2729-2740(2002) [PubMed] [Europe PMC] [Abstract]

"Cell cycle-dependent phosphorylation of the RUNX2 transcription factor by cdc2 regulates endothelial cell proliferation."
J. Biol. Chem. 281:7118-7128(2006) [PubMed] [Europe PMC] [Abstract]

"Foxp3 controls regulatory T-cell function by interacting with AML1/Runx1."
Nature 446:685-689(2007) [PubMed] [Europe PMC] [Abstract]

"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]

"Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2."
Am. J. Hum. Genet. 92:252-258(2013) [PubMed] [Europe PMC] [Abstract]

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Am. J. Hum. Genet. 65:1268-1278(1999) [PubMed] [Europe PMC] [Abstract]

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Gene 244:21-28(2000) [PubMed] [Europe PMC] [Abstract]

"A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia."
Hum. Mutat. 16:277-277(2000) [PubMed] [Europe PMC] [Abstract]

"Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations."
Am. J. Hum. Genet. 71:724-738(2002) [PubMed] [Europe PMC] [Abstract]

"New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia."
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"Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia."
Eur. J. Pediatr. 161:619-622(2002) [PubMed] [Europe PMC] [Abstract]

"Mutations in the RUNX2 gene in patients with cleidocranial dysplasia."
Hum. Mutat. 19:209-216(2002) [PubMed] [Europe PMC] [Abstract]

"Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype."
J. Cell. Physiol. 207:114-122(2006) [PubMed] [Europe PMC] [Abstract]

"A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia."
Genet. Mol. Res. 9:41-47(2010) [PubMed] [Europe PMC] [Abstract]

"Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia."
Hum. Mutat. 31:E1587-E1593(2010) [PubMed] [Europe PMC] [Abstract]

"RUNX2 mutations in cleidocranial dysplasia patients."
Oral Dis. 16:55-60(2010) [PubMed] [Europe PMC] [Abstract]