Gene: RUNX2

Alternate names for this Gene: AML3|CBF-alpha-1|CBFA1|CCD|CCD1|CLCD|OSF-2|OSF2|PEA2aA|PEBP2aA

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.1

Description of this Gene: RUNX family transcription factor 2

Type of Gene: protein-coding

rs2677108 in RUNX2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs104893989 in RUNX2 gene and Cleidocranial Dysplasia PMID 19744171 2010 RUNX2 mutations in cleidocranial dysplasia patients.

PMID 16270353 2006 Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype.

PMID 20082269 2010 A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia.

PMID 10689183 2000 PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients.

PMID 28703881 2018 A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia.

PMID 10545612 1999 CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.

PMID 12081718 2002 New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia.

PMID 11857736 2002 Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.

PMID 28738062 2017 Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia.

PMID 12196916 2002 Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations.

PMID 20648631 2010 Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

PMID 10980549 2000 A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.

PMID 24984680 2014 A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up.

PMID 28505335 2017 Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia.

PMID 10521292 1999 Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.

PMID 9182765 1997 Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.

PMID 9207800 1997 Here, we describe two de novo missense mutations, Met175Arg and Ser191Asn, in the OSF2/CBFA1 gene in two patients with CCD.

PMID 12424590 2002 Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.

PMID 9207800 1997 Here, we describe two de novo missense mutations, Met175Arg and Ser191Asn, in the OSF2/CBFA1 gene in two patients with CCD.

PMID 9207800 1997 Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.

PMID 10545612 1999 We further identified three putative hypomorphic mutations (R391X, T200A and 90insC) which result in a clinical spectrum including classic and mild CCD, as well as an isolated dental phenotype characterized by delayed eruption of permanent teeth.

PMID 26380986 2015 Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

rs147081589 in RUNX2 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1997995 in RUNX2 gene and Osteoarthritis of hip PMID 30374069 2018 Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.

PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs35740963 in RUNX2 gene and Progressive supranuclear palsy PMID 30089514 2018 Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases.

rs9472541 in RUNX2 gene and Vital capacity PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs9472521 in RUNX2 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.