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Aliases for RUNX2 Gene

Aliases for RUNX2 Gene

  • Runt Related Transcription Factor 2 2 3 5
  • 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
  • Runt-Related Transcription Factor 2 2 3
  • 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
  • CBFA1 3 4
  • OSF2 3 4
  • AML3 3 4
  • Core-Binding Factor, Runt Domain, Alpha Subunit 1 3
  • Core-Binding Factor Subunit Alpha-1 4
  • PEBP2aA 3
  • PEA2aA 3
  • PEBP2A 4
  • CCD1 3
  • CLCD 3
  • CCD 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. 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]

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 Transcription_Role of VDR in regulation of genes involved in osteoporosis and FGF signaling pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RUNX2 Gene

Genomics for RUNX2 Gene

Regulatory Elements for RUNX2 Gene

Enhancers for RUNX2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G045435 1.9 FANTOM5 Ensembl ENCODE dbSUPER 6.4 +110.2 110173 5.1 PKNOX1 ATF1 ARNT TCF12 ZNF766 ELK1 GATA2 FOS ZNF592 MBD2 SUPT3H RUNX2 ENSG00000271857 GC06P045490
GH06G045376 1.1 ENCODE 10.7 +49.9 49906 3.3 HNRNPUL1 MLX CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 FEZF1 SUPT3H RUNX2 GC06P045353
GH06G045443 2 FANTOM5 Ensembl ENCODE dbSUPER 5.1 +118.1 118097 5.4 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 SP3 NFYC MEF2D SSRP1 RUNX2 ENSG00000271857 GC06P045490
GH06G045419 1.7 FANTOM5 ENCODE dbSUPER 5.9 +95.4 95404 7.9 FOXA2 SIN3A GLI4 ZNF2 GLIS2 KDM4B ZNF263 ZNF202 REST CBX8 SUPT3H ENSG00000271857 RUNX2 GC06P045490
GH06G045477 1.7 Ensembl ENCODE dbSUPER 5.5 +150.2 150249 1.7 CREB3L1 MLX DMAP1 FEZF1 YY1 SLC30A9 ZNF263 SP3 NFYC MEF2D RUNX2 GC06P045490 ENSG00000271857
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RUNX2 on UCSC Golden Path with GeneCards custom track

Genomic Location for RUNX2 Gene

Chromosome:
6
Start:
45,327,800 bp from pter
End:
45,664,349 bp from pter
Size:
336,550 bases
Orientation:
Plus strand

Genomic View for RUNX2 Gene

Genes around RUNX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RUNX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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. Interacts with TMEM119 (By similarity).

    Alternative splice isoforms for RUNX2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RUNX2 Gene

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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RUNX2 (AML3)
  • Cloud-Clone Corp. Antibodies for RUNX2

No data available for DME Specific Peptides for RUNX2 Gene

Domains & Families for RUNX2 Gene

Suggested Antigen Peptide Sequences for RUNX2 Gene

Graphical View of Domain Structure for InterPro Entry

Q13950

UniProtKB/Swiss-Prot:

RUNX2_HUMAN :
  • A proline/serine/threonine rich region at the C-terminus is necessary for transcriptional activation of target genes and contains the phosphorylation sites.
Domain:
  • A proline/serine/threonine rich region at the C-terminus is necessary for transcriptional activation of target genes and contains the phosphorylation sites.
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 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with RUNX2: view
genes like me logo Genes that share phenotypes with RUNX2: view

Human Phenotype Ontology for RUNX2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RUNX2 Gene

MGI Knock Outs for RUNX2:

Animal Model Products

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

Inhibitory RNA Products

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

Localization for RUNX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RUNX2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RUNX2 gene
Compartment Confidence
nucleus 5
extracellular 3
plasma membrane 2
cytoskeleton 2
peroxisome 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 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 IBA --
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 & Interactions for RUNX2 Gene

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

SIGNOR curated interactions for RUNX2 Gene

Gene Ontology (GO) - Biological Process for RUNX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
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

Drugs & Compounds for RUNX2 Gene

(25) Drugs for RUNX2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(21) Additional Compounds for RUNX2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RUNX2: view

Transcripts for RUNX2 Gene

Unigene Clusters for RUNX2 Gene

Runt-related transcription factor 2:
Representative Sequences:

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x4.2).

Protein differential expression in normal tissues from HIPED for RUNX2 Gene

This gene is overexpressed in CD8 Tcells (40.3) and CD4 Tcells (28.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RUNX2 Gene



Protein tissue co-expression partners for RUNX2 Gene

NURSA nuclear receptor signaling pathways regulating expression of RUNX2 Gene:

RUNX2

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.

Evidence on tissue expression from TISSUES for RUNX2 Gene

  • Bone(4.8)
  • Bone marrow(3.1)
  • Blood(2.2)
  • Muscle(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RUNX2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeleton
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • sinus
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with RUNX2: view

Primer 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
dog
(Canis familiaris)
Mammalia RUNX2 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RUNX2 34 35
  • 99.74 (n)
oppossum
(Monodelphis domestica)
Mammalia RUNX2 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RUNX2 34 35
  • 95.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RUNX2 35
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Runx2 34 16 35
  • 93.86 (n)
rat
(Rattus norvegicus)
Mammalia Runx2 34
  • 93.35 (n)
chicken
(Gallus gallus)
Aves RUNX2 34 35
  • 87.78 (n)
lizard
(Anolis carolinensis)
Reptilia RUNX2 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia runx2 34
  • 81.13 (n)
zebrafish
(Danio rerio)
Actinopterygii runx2a 34 35
  • 76.86 (n)
fruit fly
(Drosophila melanogaster)
Insecta lz 36 35
  • 76 (a)
CG1379 36
  • 74 (a)
CG15455 36
  • 72 (a)
run 36 35
  • 67 (a)
RunxA 35
  • 19 (a)
ManyToMany
RunxB 35
  • 17 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea rnt-1 35
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 63 (a)
OneToMany
Species where no ortholog for RUNX2 was found in the sources mined by GeneCards:
  • 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
rs104893989 Pathogenic, Cleidocranial dysplasia (CLCD) [MIM:119600] 45,431,963(+) TGTTA(C/G/T)GAAAA nc-transcript-variant, reference, missense
rs104893990 Pathogenic, Cleidocranial dysplasia (CLCD) [MIM:119600] 45,432,011(+) CCGGA(A/G)TGGAC nc-transcript-variant, reference, missense
rs104893991 Pathogenic, Cleidocranial dysplasia (CLCD) [MIM:119600] 45,438,040(+) ACCTC(A/G)GGAAC nc-transcript-variant, reference, missense
rs104893992 Pathogenic, Cleidocranial dysplasia (CLCD) [MIM:119600] 45,438,039(+) GACCT(C/T)GGGAA nc-transcript-variant, reference, missense
rs104893993 Pathogenic, Cleidocranial dysplasia (CLCD) [MIM:119600] 45,437,964(+) CCTTG(A/G)CCATA nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1764e212 CNV loss 25503493
esv2476554 CNV deletion 19546169
esv3306539 CNV mobile element insertion 20981092
esv3401379 CNV insertion 20981092
esv3571035 CNV loss 25503493
esv3571036 CNV loss 25503493
nsv527552 CNV loss 19592680
nsv830652 CNV loss 17160897

Variation tolerance for RUNX2 Gene

Residual Variation Intolerance Score: 12.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.00; 36.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RUNX2 Gene

Human Gene Mutation Database (HGMD)
RUNX2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RUNX2

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

Disorders for RUNX2 Gene

MalaCards: The human disease database

(40) MalaCards diseases for RUNX2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cleidocranial dysplasia
  • cleidocranial dysplasia, forme fruste, with brachydactyly
metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
  • mdmhb
parietal foramina with cleidocranial dysplasia
  • parietal foramina with cleidocranial dysostosis
imperforate anus
  • anal atresia
alveolar periostitis
  • alveolitis of jaw
- elite association - COSMIC cancer census association via MalaCards
Search RUNX2 in MalaCards View complete list of genes associated with diseases

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}.

Relevant External Links for RUNX2

Genetic Association Database (GAD)
RUNX2
Human Genome Epidemiology (HuGE) Navigator
RUNX2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RUNX2
genes like me logo Genes that share disorders with RUNX2: view

No data available for Genatlas for RUNX2 Gene

Publications for RUNX2 Gene

  1. Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. (PMID: 20648631) Ott C.E. … Klopocki E. (Hum. Mutat. 2010) 3 4 46 64
  2. Novel promoter polymorphism in RUNX2 is associated with serum triglyceride level. (PMID: 18688176) Shin H.D. … Han B.G. (Mol. Cells 2008) 3 22 46 64
  3. Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype. (PMID: 16270353) Kim H.-J. … Choi J.-Y. (J. Cell. Physiol. 2006) 3 4 22 64
  4. Cell cycle-dependent phosphorylation of the RUNX2 transcription factor by cdc2 regulates endothelial cell proliferation. (PMID: 16407259) Qiao M. … Passaniti A. (J. Biol. Chem. 2006) 3 4 22 64
  5. Variation in femoral length is associated with polymorphisms in RUNX2 gene. (PMID: 16198163) Ermakov S. … Livshits G. (Bone 2006) 3 22 46 64

Products for RUNX2 Gene

Sources for RUNX2 Gene

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