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Aliases for RUNX2 Gene

Aliases for RUNX2 Gene

  • Runt-Related Transcription Factor 2 2 3
  • CBFA1 3 4 6
  • AML3 3 4 6
  • Polyomavirus Enhancer-Binding Protein 2 Alpha A Subunit 3 4
  • SL3/AKV Core-Binding Factor Alpha A Subunit 3 4
  • Osteoblast-Specific Transcription Factor 2 3 4
  • SL3-3 Enhancer Factor 1 Alpha A Subunit 3 4
  • Acute Myeloid Leukemia 3 Protein 3 4
  • Oncogene AML-3 3 4
  • PEBP2-Alpha A 3 4
  • PEA2-Alpha A 3 4
  • CBF-Alpha-1 3 4
  • OSF-2 3 4
  • OSF2 3 4
  • CLCD 3 6
  • CCD 3 6
  • Core-Binding Factor, Runt Domain, Alpha Subunit 1 3
  • Core-Binding Factor Subunit Alpha-1 4
  • PEBP2aA 3
  • PEBP2A1 6
  • PEA2aA 3
  • PEBP2A 4
  • CCD1 3

External Ids for RUNX2 Gene

Previous HGNC Symbols for RUNX2 Gene

  • CCD
  • CBFA1
  • CCD1

Previous GeneCards Identifiers for RUNX2 Gene

  • GC06P045392
  • GC06P045437
  • GC06P045498
  • GC06P045018

Summaries for RUNX2 Gene

Entrez Gene Summary for RUNX2 Gene

  • 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. 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 2008]

GeneCards Summary for RUNX2 Gene

RUNX2 (Runt-Related Transcription Factor 2) is a Protein Coding gene. Diseases associated with RUNX2 include cleidocranial dysplasia and metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly. Among its related pathways are Endochondral Ossification and FGF signaling pathway. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription regulatory region DNA binding. An important paralog of this gene is RUNX1.

UniProtKB/Swiss-Prot for RUNX2 Gene

  • Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis. Essential for the maturation of osteoblasts and both intramembranous and endochondral ossification. CBF binds to the core site, 5-PYGPYGGT-3, of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, osteocalcin, osteopontin, bone sialoprotein, alpha 1(I) collagen, LCK, IL-3 and GM-CSF promoters. In osteoblasts, supports transcription activation: synergizes with SPEN/MINT to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Inhibits KAT6B-dependent transcriptional activation.

Gene Wiki entry for RUNX2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RUNX2 Gene

Genomics for RUNX2 Gene

Regulatory Elements for RUNX2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RUNX2 Gene

Start:
45,328,157 bp from pter
End:
45,664,349 bp from pter
Size:
336,193 bases
Orientation:
Plus strand

Genomic View for RUNX2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RUNX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RUNX2 Gene

Proteins for RUNX2 Gene

  • Protein details for RUNX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13950-RUNX2_HUMAN
    Recommended name:
    Runt-related transcription factor 2
    Protein Accession:
    Q13950
    Secondary Accessions:
    • O14614
    • O14615
    • O95181

    Protein attributes for RUNX2 Gene

    Size:
    521 amino acids
    Molecular mass:
    56648 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. The alpha subunit binds DNA as a monomer and through the Runt domain. DNA-binding is increased by heterodimerization. Interacts with XRCC6 (Ku70) and XRCC5 (Ku80). Interacts with HIVEP3. Interacts with IFI204. Interaction with SATB2; the interaction results in enhanced DNA binding and transactivation by these transcription factors. Binds to HIPK3. Interacts (isoform 3) with DDX5. Interacts with FOXO1 (via a C-terminal region); the interaction inhibits RUNX2 transcriptional activity towards BGLAP. This interaction is prevented on insulin or IGF1 stimulation as FOXO1 is exported from the nucleus (By similarity). Interacts with CCNB1, KAT6A and KAT6B. Interacts with FOXP3.

    Alternative splice isoforms for RUNX2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RUNX2 Gene

Proteomics data for RUNX2 Gene at MOPED

Post-translational modifications for RUNX2 Gene

  • Phosphorylated; probably by MAP kinases (MAPK). Phosphorylation by HIPK3 is required for the SPEN/MINT and FGF2 transactivation during osteoblastic differentiation (By similarity). Phosphorylation at Ser-451 by CDK1 promotes endothelial cell proliferation required for tumor angiogenesis probably by facilitating cell cycle progression. Isoform 3 is phosphorylated on Ser-340.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RUNX2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RUNX2 (AML3)

No data available for DME Specific Peptides for RUNX2 Gene

Domains for RUNX2 Gene

Suggested Antigen Peptide Sequences for RUNX2 Gene

Graphical View of Domain Structure for InterPro Entry

Q13950

UniProtKB/Swiss-Prot:

RUNX2_HUMAN :
  • Q13950
Domain:
  • A proline/serine/threonine rich region at the C-terminus is necessary for transcriptional activation of target genes and contains the phosphorylation sites
  • Contains 1 Runt domain.
genes like me logo Genes that share domains with RUNX2: view

No data available for Gene Families for RUNX2 Gene

Function for RUNX2 Gene

Molecular function for RUNX2 Gene

GENATLAS Biochemistry: Drosophila Runt pair rule-related transcription factor,expressed in T lymphocyte-derived cell lines,osteoblast-specific transcription factor,regulating osteoblast differentiation,binding to the osteocalcin promoter,regulated by BMP7 and vitamin D3,and essential for membranous and encochondreal bone formation,also involved in hematopoietic stem cells differentiation,
UniProtKB/Swiss-Prot Function: Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis. Essential for the maturation of osteoblasts and both intramembranous and endochondral ossification. CBF binds to the core site, 5-PYGPYGGT-3, of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, osteocalcin, osteopontin, bone sialoprotein, alpha 1(I) collagen, LCK, IL-3 and GM-CSF promoters. In osteoblasts, supports transcription activation: synergizes with SPEN/MINT to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Inhibits KAT6B-dependent transcriptional activation.

Gene Ontology (GO) - Molecular Function for RUNX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IEA --
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity IBA --
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0003677 DNA binding --
genes like me logo Genes that share ontologies with RUNX2: view
genes like me logo Genes that share phenotypes with RUNX2: view

Animal Models for RUNX2 Gene

MGI Knock Outs for RUNX2:

Animal Model Products

CRISPR Products

Targeting motifs for RUNX2 Gene
HOMER Transcription Factor Regulatory Elements motif RUNX2
  • Consensus sequence: NWAACCACADNN Submotif: canonical Cell Type: PCa GeoId: GSE33889

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RUNX2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targeting for RUNX2 Gene

Localization for RUNX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RUNX2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RUNX2 Gene COMPARTMENTS Subcellular localization image for RUNX2 gene
Compartment Confidence
nucleus 5
extracellular 3
cytoskeleton 2
cytosol 2
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for RUNX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISS --
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with RUNX2: view

Pathways for RUNX2 Gene

genes like me logo Genes that share pathways with RUNX2: view

PCR Array Products

Gene Ontology (GO) - Biological Process for RUNX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development --
GO:0001503 ossification TAS 12217689
GO:0001649 osteoblast differentiation TAS 12217689
GO:0001958 endochondral ossification IEA --
GO:0002051 osteoblast fate commitment IEA --
genes like me logo Genes that share ontologies with RUNX2: view

Compounds for RUNX2 Gene

(46) Novoseek inferred chemical compound relationships for RUNX2 Gene

Compound -log(P) Hits PubMed IDs
alizarin 80.6 2
dexamethasone 58.3 41
hydroxyapatite 54.3 3
polycaprolactone 48.6 1
tgf beta1 44.9 4
genes like me logo Genes that share compounds with RUNX2: view

Transcripts for RUNX2 Gene

mRNA/cDNA for RUNX2 Gene

Unigene Clusters for RUNX2 Gene

Runt-related transcription factor 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RUNX2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RUNX2 Gene

No ASD Table

Relevant External Links for RUNX2 Gene

GeneLoc Exon Structure for
RUNX2
ECgene alternative splicing isoforms for
RUNX2

Expression for RUNX2 Gene

mRNA expression in normal human tissues for RUNX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RUNX2 Gene

This gene is overexpressed in Minor Salivary Gland (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RUNX2 Gene

SOURCE GeneReport for Unigene cluster for RUNX2 Gene Hs.535845

mRNA Expression by UniProt/SwissProt for RUNX2 Gene

Q13950-RUNX2_HUMAN
Tissue specificity: Specifically expressed in osteoblasts
genes like me logo Genes that share expressions with RUNX2: view

In Situ Assay Products

Orthologs for RUNX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RUNX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RUNX2 35
  • 99.74 (n)
  • 100 (a)
RUNX2 36
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RUNX2 35
  • 95.24 (n)
  • 99.23 (a)
RUNX2 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RUNX2 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Runx2 35
  • 93.86 (n)
  • 98.66 (a)
Runx2 16
Runx2 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RUNX2 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RUNX2 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Runx2 35
  • 93.35 (n)
  • 98.85 (a)
chicken
(Gallus gallus)
Aves RUNX2 35
  • 87.78 (n)
  • 96.61 (a)
RUNX2 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RUNX2 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia runx2 35
  • 81.13 (n)
  • 91.45 (a)
zebrafish
(Danio rerio)
Actinopterygii runx2a 35
  • 76.86 (n)
  • 88.43 (a)
runx2a 36
  • 83 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta lz 36
  • 14 (a)
ManyToMany
run 36
  • 21 (a)
ManyToMany
RunxA 36
  • 19 (a)
ManyToMany
RunxB 36
  • 17 (a)
ManyToMany
CG1379 37
  • 74 (a)
run 37
  • 67 (a)
CG15455 37
  • 72 (a)
lz 37
  • 76 (a)
worm
(Caenorhabditis elegans)
Secernentea rnt-1 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 63 (a)
OneToMany
Species with no ortholog for RUNX2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RUNX2 Gene

ENSEMBL:
Gene Tree for RUNX2 (if available)
TreeFam:
Gene Tree for RUNX2 (if available)

Paralogs for RUNX2 Gene

Paralogs for RUNX2 Gene

genes like me logo Genes that share paralogs with RUNX2: view

Variants for RUNX2 Gene

Sequence variations from dbSNP and Humsavar for RUNX2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs565794 -- 45,548,013(+) AAAAA(A/G)AAATC utr-variant-3-prime, intron-variant
rs566712 -- 45,548,117(+) CTATG(G/T)GTTGT utr-variant-3-prime, intron-variant
rs590091 -- 45,548,120(+) TGGGT(G/T)GTTTT utr-variant-3-prime, intron-variant
rs600100 -- 45,532,388(-) AAAAA(A/G)AGGGG intron-variant
rs610808 -- 45,532,284(-) AAATT(C/T)TACTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RUNX2 Gene

Variant ID Type Subtype PubMed ID
nsv830652 CNV Loss 17160897
esv2476554 CNV Deletion 19546169
esv270815 CNV Insertion 20981092
nsv527552 CNV Loss 19592680

Relevant External Links for RUNX2 Gene

HapMap Linkage Disequilibrium report
RUNX2
Human Gene Mutation Database (HGMD)
RUNX2

PCR Panel Products

  • Copy Number PCR Panels: for RUNX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RUNX2 Gene

Disorders for RUNX2 Gene

(2) OMIM Diseases for RUNX2 Gene (600211)

UniProtKB/Swiss-Prot

RUNX2_HUMAN
  • Cleidocranial dysplasia (CLCD) [MIM:119600]: Autosomal dominant skeletal disorder with high penetrance and variable expressivity. It is due to defective endochondral and intramembranous bone formation. Typical features include hypoplasia/aplasia of clavicles, patent fontanelles, wormian bones (additional cranial plates caused by abnormal ossification of the calvaria), supernumerary teeth, short stature, and other skeletal changes. In some cases defects in RUNX2 are exclusively associated with dental anomalies. {ECO:0000269 PubMed:10521292, ECO:0000269 PubMed:10545612, ECO:0000269 PubMed:10689183, ECO:0000269 PubMed:10980549, ECO:0000269 PubMed:11857736, ECO:0000269 PubMed:12081718, ECO:0000269 PubMed:12196916, ECO:0000269 PubMed:12424590, ECO:0000269 PubMed:16270353, ECO:0000269 PubMed:19744171, ECO:0000269 PubMed:20082269, ECO:0000269 PubMed:20648631, ECO:0000269 PubMed:9182765, ECO:0000269 PubMed:9207800}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly (MDMHB) [MIM:156510]: An autosomal dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth. {ECO:0000269 PubMed:23290074}. Note=The disease is caused by mutations affecting the gene represented in this entry. Analysis for copy-number variations revealed that a 105 kb duplication within RUNX2 segregated with the MDMHB phenotype in a region with maximum linkage. Real-time PCR for copy-number variation in genomic DNA in eight samples, as well as sequence analysis of fibroblast cDNA from one subject with MDMHB confirmed that affected family members were heterozygous for the presence of an intragenic duplication encompassing exons 3 to 5 of RUNX2. These three exons code for the Q/A domain and the functionally essential DNA-binding Runt domain of RUNX2. The RUNX2 duplication found in individuals with MDMHB leads to a gain of function (PubMed:23290074). {ECO:0000269 PubMed:23290074}.

(5) University of Copenhagen DISEASES for RUNX2 Gene

(44) Novoseek inferred disease relationships for RUNX2 Gene

Disease -log(P) Hits PubMed IDs
cleidocranial dysplasia 95 67
supernumerary teeth 74.4 2
calcification 70.9 45
osteosarcoma 64 37
skeletal dysplasia 63.2 4

Relevant External Links for RUNX2

GeneTests
RUNX2
GeneReviews
RUNX2
Genetic Association Database (GAD)
RUNX2
Human Genome Epidemiology (HuGE) Navigator
RUNX2
genes like me logo Genes that share disorders with RUNX2: view

Publications for RUNX2 Gene

  1. Genomic organization, expression of the human CBFA1 gene, and evidence for an alternative splicing event affecting protein function. (PMID: 9434946) Geoffroy V. … Karsenty G. (Mamm. Genome 1998) 3 4 23
  2. CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. (PMID: 10545612) Zhou G. … Lee B. (Hum. Mol. Genet. 1999) 3 4 23
  3. A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia. (PMID: 10980549) Giannotti A. … Santorelli F.M. (Hum. Mutat. 2000) 3 4 23
  4. Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. (PMID: 10521292) Quack I. … Otto F. (Am. J. Hum. Genet. 1999) 3 4 23
  5. Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. (PMID: 11857736) Otto F. … Mundlos S. (Hum. Mutat. 2002) 3 4 23

Products for RUNX2 Gene

Sources for RUNX2 Gene

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