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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RUNX2 Gene

protein-coding   GIFtS: 68
GCID: GC06P045295

runt-related transcription factor 2


(Previous symbols: CCD, CBFA1, CCD1)
 Explore 66 diseases affiliated with
RUNX2 via our new
 Human Malady Compendium 
Biological research products
for RUNX2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Runt-Related Transcription Factor 21 2     OSF-22 3
AML31 2 3 5     OSF22 3
CBFA11 2 3 5     PEA2-Alpha A2 3
PEBP2A11 2 5     PEBP2-Alpha A2 3
CCD1 2     SL3-3 Enhancer Factor 1 Alpha A Subunit2 3
CCD11 2     SL3/AKV Core-Binding Factor Alpha A Subunit2 3
PEBP2aA11 2     PEA2aA2
Acute Myeloid Leukemia 3 Protein2 3     PEBP2A22
Oncogene AML-32 3     PEBP2aA2
Osteoblast-Specific Transcription Factor 22 3     Core-Binding Factor, Runt Domain, Alpha Subunit 12
Polyomavirus Enhancer-Binding Protein 2 Alpha A Subunit2 3     PEBP2A3
CBF-Alpha-11     Core-Binding Factor Subunit Alpha-13

External Ids:    HGNC: 104721   Entrez Gene: 8602   Ensembl: ENSG000001248137   OMIM: 6002115   UniProtKB: Q139503   

Export aliases for RUNX2 gene to outside databases

Previous GC identifers: GC06P045392 GC06P045437 GC06P045498 GC06P045018


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RUNX2:
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)

UniProtKB/Swiss-Prot: RUNX2_HUMAN, Q13950
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 Wiki entry for RUNX2


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RUNX2 gene promoter:
         PPAR-gamma1   AP-1   MyoD   PPAR-gamma2   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRUNX2 promoter sequence
   Search SABiosciences Chromatin IP Primers for RUNX2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RUNX2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p21

RUNX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RUNX2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P045295:  view genomic region     (about GC identifiers)

Start:
45,295,894 bp from pter      End:
45,632,086 bp from pter
Size:
336,193 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RUNX2_HUMAN, Q13950 (See protein sequence)
Recommended Name: Runt-related transcription factor 2  
Size: 521 amino acids; 56648 Da
Subunit: 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
Subcellular location: Nucleus
Secondary accessions: O14614 O14615 O95181
Alternative splicing: 3 isoforms:  Q13950-1   Q13950-2   Q13950-3   (Contains a phosphoserine at position 340)

Explore the universe of human proteins at neXtProt for RUNX2: NX_Q13950

Post-translational modifications:

  • 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-3401
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13950

  • RUNX2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001015051.3  NP_001019801.3  NP_004339.3  

    ENSEMBL proteins: 
     ENSP00000461357   ENSP00000420707   ENSP00000360493   ENSP00000360491   ENSP00000458178  
     ENSP00000460188   ENSP00000352514   ENSP00000319087   ENSP00000446290   ENSP00000360486  
    Reactome Protein details: Q13950
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate (see all 2): RUNX2
    OriGene Custom Protein Services for RUNX2 
    GenScript Custom Purified and Recombinant Proteins Services for RUNX2
    Novus Biologicals RUNX2 Proteins
    Novus Biologicals RUNX2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for RUNX2

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin ISS--
    GO:0005634nucleus IDA--
    GO:0005667transcription factor complex IEA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--


    RUNX2 for ontologies           About GeneDecksing



    RUNX2 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of RUNX2
    R&D Systems Antibodies for RUNX2 (RUNX2/CBFA1)
    Cell Signaling Technology (CST) Antibodies for RUNX2  (AML3)
    OriGene Antibodies (see all 2): RUNX2
    OriGene Custom Antibody Services for RUNX2 
    GenScript Custom Superior Antibodies Services for RUNX2
    Novus Biologicals RUNX2 Antibodies
    Abcam antibodies for RUNX2 
    Uscn Antibodies for RUNX2
    ThermoFisher Antibodies for RUNX2

    Assay Products for RUNX2: 
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    GenScript Custom Assay Services for RUNX2
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for RUNX2


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RUNX2 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR012346 p53/RUNT-type_TF_DNA-bd
     IPR000040 AML1_Runt
     IPR008967 p53-like_TF_DNA-bd
     IPR016554 TF_Runt-rel_RUNX
     IPR013711 RunxI

    Graphical View of Domain Structure for InterPro Entry Q13950

    ProtoNet protein and cluster: Q13950

    2 Blocks protein families:
    IPB000040 Acute myeloid leukemia 1 protein signature
    IPB013711 Runx inhibition


    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
    Similarity: Contains 1 Runt domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: RUNX2_HUMAN, Q13950
    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

         Genatlas biochemistry entry for RUNX2:
    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,

    miRNA
    Products:
        
    miRTarBase miRNAs that target RUNX2:
    hsa-mir-335 (MIRT005888), hsa-mir-135b (MIRT003597), hsa-mir-155 (MIRT004707)

    OriGene 3'-UTR Clone (see all 3): RUNX2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RUNX2
    8/63 QIAGEN miScript miRNA Assays for microRNAs that regulate RUNX2 (see all 63):
    hsa-miR-607 hsa-miR-302d hsa-miR-520e hsa-miR-485-3p hsa-miR-30d hsa-miR-519a hsa-miR-218 hsa-miR-4275
    SwitchGear 3'UTR luciferase reporter plasmidRUNX2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RUNX2 (see all 4)
    OriGene shRNA RFP: RUNX2
    OriGene siRNA: RUNX2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RUNX2

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for RUNX2

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RUNX2 (see all 6)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RUNX2 (see all 4)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 3): RUNX2 (NM_001024630)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RUNX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RUNX2 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for RUNX2
    LifeMap BioReagents: cell lines associated with RUNX2: PureStem SK11, NCr-fac & Meso-prx Progenitor,
    PureStem SM30, NCr-fac & Meso-latp Progenitor

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RUNX2

    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI16299379
    GO:0005524ATP binding IEA--


    RUNX2 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for RUNX2:
     Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa 

    Animal Models:
         Mouse knock-outs for RUNX2: Runx2tm1Ldq Runx2tm1.1Jals Runx2tm1Kish
         15/20 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Runx2) (see all 20):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  endocrine/exocrine gland 
     growth/size  hematopoietic system  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  liver/biliary system  mortality/aging  muscle  nervous system 

    RUNX2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/16 super-pathways (see all 16About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Transcription_Role of VDR in regulation of genes involved in osteoporosis
    Transcription_Role of VDR in regulation of genes involved in osteoporosis1.00
    Transcription Role of VDR in regulation of genes involved in osteoporosis0.80
    2Development_Hedgehog and PTH signaling pathways in bone and cartilage development
    Development_Hedgehog and PTH signaling pathways in bone and cartilage development1.00
    Development Hedgehog and PTH signaling pathways in bone and cartilage development0.97
    3Generic Transcription Pathway
    Generic Transcription Pathway1.00
    Gene Expression0.46
    4YAP1- and WWTR1 (TAZ)-stimulated gene expression
    YAP1- and WWTR1 (TAZ)-stimulated gene expression1.00
    5Interleukin-11 Signaling Pathway
    Interleukin-11 Signaling Pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for RUNX2
        Development Hedgehog and PTH signaling pathways in bone and cartilage development
    Transcription Role of VDR in regulation of genes involved in osteoporosis

    1 R&D Systems Pathway for RUNX2
        TGF-beta Signaling Pathways


    2 GeneGo (Thomson Reuters) Pathways for RUNX2
        Development Hedgehog and PTH signaling pathways in bone and cartilage development
    Transcription Role of VDR in regulation of genes involved in osteoporosis

    5/11 BioSystems Pathways for RUNX2 (see all 11
        BMP signalling and regulation
    TGF Beta Signaling Pathway
    Endochondral Ossification
    TGF-beta Receptor Signaling Pathway
    Androgen receptor signaling pathway

    3        Reactome Pathways for RUNX2
        Generic Transcription Pathway
    Gene Expression
    YAP1- and WWTR1 (TAZ)-stimulated gene expression



    RUNX2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RUNX2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/68 Interacting proteins for RUNX2 (Q139501, 3 ENSP000003525144) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD6O435411, 3, ENSP000002888404EBI-976402,EBI-976374 I2D: score=2 STRING: ENSP00000288840
    HDAC4P565243, ENSP000002646064I2D: score=5 STRING: ENSP00000264606
    HDAC3O153793, ENSP000003029674I2D: score=3 STRING: ENSP00000302967
    HDAC6Q9UBN73, ENSP000003340614I2D: score=3 STRING: ENSP00000334061
    JUNP054123, ENSP000003602664I2D: score=3 STRING: ENSP00000360266
    About this table

    Gene Ontology (GO): 5/31 biological process terms (GO ID links to tree view) (see all 31):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development ----
    GO:0001503ossification TAS12217689
    GO:0001649osteoblast differentiation TAS12217689
    GO:0001958endochondral ossification IEA--
    GO:0002051osteoblast fate commitment IEA--


    RUNX2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RUNX2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RUNX2
    10/46 Novoseek chemical compound relationships for RUNX2 gene (see all 46)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alizarin 80.6 2 15853967 (1), 18847334 (1)
    dexamethasone 58.3 64 17950631 (8), 15368363 (4), 11135373 (3), 17707772 (3) (see all 19)
    hydroxyapatite 54.3 3 17516856 (1), 20398935 (1), 20077014 (1)
    polycaprolactone 48.6 1 20398935 (1)
    tgf beta1 44.9 5 15107836 (3), 18554936 (1)
    titanium 43.8 8 16634490 (2), 17049981 (1), 18688796 (1), 19733525 (1) (see all 5)
    ascorbic acid 42.4 29 17274723 (3), 14648194 (2), 11771655 (1), 17956465 (1) (see all 7)
    strontium ranelate 39.2 4 17300752 (2), 17579299 (1), 19563530 (1)
    calcium 34.5 13 16637042 (1), 18160010 (1), 18366626 (1), 17702986 (1) (see all 13)
    pd 98,059 33.4 8 19807253 (2), 10660618 (1), 19438323 (1), 20517899 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about RUNX2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RUNX2 gene (3 alternative transcripts): 
    NM_001015051.3  NM_001024630.3  NM_004348.3  

    Unigene Cluster for RUNX2:

    Runt-related transcription factor 2
    Hs.535845  [show with all ESTs]
    Unigene Representative Sequence: NM_004348
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000483377 ENST00000483243(uc003oxs.1) ENST00000465038 ENST00000371438(uc011dvx.2 uc011dvy.2)
    ENST00000371436 ENST00000576263 ENST00000473041 ENST00000478660 ENST00000359524
    ENST00000352853 ENST00000541979 ENST00000371432(uc003oxt.3)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RUNX2
    8/63 QIAGEN miScript miRNA Assays for microRNAs that regulate RUNX2 (see all 63):
    hsa-miR-607 hsa-miR-302d hsa-miR-520e hsa-miR-485-3p hsa-miR-30d hsa-miR-519a hsa-miR-218 hsa-miR-4275
    SwitchGear 3'UTR luciferase reporter plasmidRUNX2 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): RUNX2 (NM_001024630)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RUNX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RUNX2 
    Primer
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    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RUNX2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RUNX2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RUNX2
      Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RUNX2

    Additional cDNA sequence: 

    AF053952.1 AF087960.1 AL353944.1 BC108919.1 BC108920.1 L40992.1 

    7 DOTS entries:

    DT.95361643  DT.40189380  DT.208720  DT.121388720  DT.99997401  DT.40125005  DT.40125006 

    11 AceView cDNA sequences:

    BX108677 AF053952 AW469546 AW850703 AW592551 AI738968 AA970073 AI394663 
    AW296595 AA779817 AW023513 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RUNX2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    RUNX2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/109 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 109
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneAutopod Epiphyseal EndChondrocytesBone, Cartilage
    BoneAutopod Growth PlateHypertrophic ChondrocytesBone, Cartilage
    BoneAutopod Growth PlatePrehypertrophic ChondrocytesBone, Cartilage
    BoneAutopod Growth PlateTerminal ChondrocytesBone, Cartilage
    BoneAutopod PerichondriumEndochondral PreosteoblastsBone
    BoneAutopod PeriosteumEndochondral OsteoblastsBone
    BoneAutopod PeriosteumImmature Endochondral OsteoblastsBone
    BoneCaudal Endochondral BonesEndochondral OsteoblastsBone
    BoneCaudal Endochondral BonesEndochondral PreosteoblastsBone
    BoneCaudal Endochondral BonesHypertrophic ChondrocytesBone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/11 LifeMap Cells (see all 11
    NameCategory
    Mesenchymal Precursor Cells (STRO-3 selected) (Adult Stem / Progenitor Cell)Bone
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor E68 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN7 (Embryonic Progenitor Cell)
    Chondrocyte-like cells (Direct differentiati...)Bone, Cartilage
    Mesoderm-like cells (Direct differentiati...)Mesoderm
    Mesendoderm cells (Generation of skelet...)
    Connective tissue progenitor cells (Generation of connec...)

    See RUNX2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RUNX2

    SOURCE GeneReport for Unigene cluster: Hs.535845

    UniProtKB/Swiss-Prot: RUNX2_HUMAN, Q13950
    Tissue specificity: Specifically expressed in osteoblasts

        SABiosciences Expression via Pathway-Focused PCR Arrays including RUNX2 (see all 8): 
              Osteogenesis in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Leukemia in human mouse rat
              Notch Signaling Targets in human mouse rat
              Hedgehog Signaling Pathway in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RUNX2 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Runx21 , 5 runt related transcription factor 21, 5 93.92(n)1
    98.85(a)1
      17 (21.33 cM)5
    123931  NM_001146038.11  NP_001139510.11 
     444959875 
    chicken
    (Gallus gallus)
    Aves RUNX21 runt-related transcription factor 2 88.06(n)
    97.03(a)
      373919  NM_204128.1  NP_989459.1 
    lizard
    (Anolis carolinensis)
    Reptilia RUNX26
    --
    94(a)
    1 ↔ 1
    1(138869690-139054248)
    zebrafish
    (Danio rerio)
    Actinopterygii runx2a1 runt-related transcription factor 2a 76.86(n)
    88.43(a)
      405784  NM_212858.2  NP_998023.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta lz3 antennal morphogenesis transcription factor 76(a)
    (best of 4)
      1 8D12   --
    worm
    (Caenorhabditis elegans)
    Secernentea rnt-11 Protein RNT-1 41.17(n)
    37.54(a)
      172243  NM_059278.4  NP_491679.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RUNX2 gene
    RUNX12  RUNX32  
    5 SIMAP similar genes for RUNX2 using alignment to 9 protein entries:     RUNX2_HUMAN (see all proteins):
    RUNX1/C20orf112 fusion    C20orf112/RUNX1 fusion    RUNX1    RUNX3    RUNX1/CBFA2T2 fusion

    RUNX2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3563 NCBI SNPs in RUNX2 are shown (see all 3563    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048939941,2
    Cpathogenic69297776(+) ATATTC/GAAATT 6 S * stop-lost0--------
    rs1048939881,2
    Cpathogenic69333257(+) CCGTGA/GTCCTA 6 * W stg10--------
    rs1048939911,2
    Cpathogenic69407499(+) ACCTCA/GGGAAC 6 Q R mis10--------
    rs1048939921,2
    Cpathogenic69407500(+) GACCTC/TGGGAA 6 R W mis10--------
    rs1048939931,2
    Cpathogenic69407575(+) CCTTGA/GCCATA 6 T A mis10--------
    rs1048939891,2
    Cpathogenic69413576(+) TGTTAG/TGAAAA 6 R M mis10--------
    rs1048939951,2
    Cpathogenic69413594(+) GCTCCC/GGAATG 6 P R mis10--------
    rs122015551,2
    C,F,H,--45017084(+) ACCAGT/AGTATT 2 -- us2k17Minor allele frequency- A:0.14NS EA WA NA 744
    rs737353721,2
    C,--45017560(+) GGAGAC/TAGTTT 2 -- us2k11Minor allele frequency- T:0.50WA 2
    rs745790601,2
    F,--45017688(+) CTTCCA/CTTAGA 2 -- us2k11Minor allele frequency- C:0.02NA 120

    HapMap Linkage Disequilibrium report for RUNX2 (45295894 - 45545894 bp, first 250kb of RUNX2)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for RUNX2
         1 CNV: 99524
    Human Gene Mutation Database (HGMD): RUNX2

    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing RUNX2:
    Birth Defects
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RUNX2
    DNA2.0 Custom Variant and Variant Library Synthesis for RUNX2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RUNX2 for disorders           About GeneDecksing

    OMIM gene information: 600211   
    OMIM disorders: 119600  
    UniProtKB/Swiss-Prot: RUNX2_HUMAN, Q13950
  • Defects in RUNX2 are the cause of cleidocranial dysplasia (CLCD) [MIM:119600]; also known as cleidocranial
  • dysostosis (CCD). CLCD is an 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

    20/66 diseases for RUNX2 (see all 66):    About MalaCards
    cleidocranial dysplasia    acute myeloid leukemia    dental anomalies, isolated    myeloid leukemia
    saethre-chotzen syndrome    craniofacial anomalies    williams-beuren syndrome    ossifying fibroma
    craniofacial abnormalities    fibrous dysplasia    leukemia    tooth agenesis
    hyperphosphatemia    short stature    acrocephalosyndactylia    pfeiffer syndrome
    secondary hyperparathyroidism    arterial calcification    osteopetrosis    osteolysis

    5 diseases from the University of Copenhagen DISEASES database for RUNX2:
    Cleidocranial dysplasia     Osteoporosis     Craniosynostosis     Osteoarthritis
    Cancer

    10/44 Novoseek disease relationships for RUNX2 gene (see all 44)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cleidocranial dysplasia 95 71 11321595 (2), 11459326 (2), 16270353 (2), 19515746 (2) (see all 52)
    supernumerary teeth 74.4 2 17973689 (1), 10521292 (1)
    calcification 70.9 50 18378684 (4), 17538568 (3), 11684076 (2), 16837922 (2) (see all 37)
    osteosarcoma 64 42 19739101 (5), 19688969 (5), 19894220 (3), 20465837 (3) (see all 19)
    skeletal dysplasia 63.2 4 15952089 (1), 9434946 (1), 18424451 (1), 20014132 (1)
    osteoporosis 58.4 11 18755791 (1), 16901655 (1), 19877060 (1), 12638206 (1) (see all 10)
    bone diseases 56.4 14 17725488 (1), 18829534 (1), 19915614 (1), 17165130 (1) (see all 12)
    osteolytic 50.2 11 15231660 (3), 17165130 (2), 15665096 (2), 18829534 (1) (see all 5)
    ossification heterotopic 48.7 5 19940863 (4), 19543517 (1)
    skeletal disorder 47.5 5 17290219 (1), 12682904 (1), 19734454 (1), 9182764 (1)

    GeneTests: RUNX2
    Cleidocranial Dysplasia

    Genetic Association Database (GAD): RUNX2
    Human Genome Epidemiology (HuGE) Navigator: RUNX2 (23 documents)

    Export disorders for RUNX2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RUNX2 gene, integrated from 9 sources (see all 848):
    (articles sorted by number of sources associating them with RUNX2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cell cycle-dependent phosphorylation of the RUNX2 transcription factor by cdc2 regulates endothelial cell proliferation. (PubMed id 16407259)1, 2, 9 Qiao M....Passaniti A. (2006)
    2. Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype. (PubMed id 16270353)1, 2, 9 Kim H.J....Choi J.Y. (2006)
    3. MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2. (PubMed id 11965546)1, 2, 9 Pelletier N.... Yang X.-J. (2002)
    4. Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. (PubMed id 12196916)1, 2, 9 Yoshida T....Shigesada K. (2002)
    5. Variation in femoral length is associated with polymorphisms in RUNX2 gene. (PubMed id 16198163)1, 4, 9 Ermakov S....Livshits G. (2006)
    6. A novel RUNX2 mutation (T420I) in Chinese patients wi th cleidocranial dysplasia. (PubMed id 20082269)1, 2, 9 Wang G.X....Song F.L. (2010)
    7. RUNX2 mutations in cleidocranial dysplasia patients. (PubMed id 19744171)1, 2, 9 Ryoo H.M....Kim J.W. (2010)
    8. Regulation of osteocalcin gene expression by a novel Ku antigen transcription factor complex. (PubMed id 12145306)1, 2, 9 Willis D.M.... Towler D.A. (2002)
    9. Alleles of RUNX2/CBFA1 gene are associated with differences in bone mineral density and risk of fracture. (PubMed id 12162506)1, 4, 9 Vaughan T....Morrison N.A. (2002)
    10. Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. (PubMed id 11857736)1, 2, 9 Otto F....Mundlos S. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 860 HGNC: 10472 AceView: RUNX2.1 Ensembl:ENSG00000124813 euGenes: HUgn860
    ECgene: RUNX2 H-InvDB: RUNX2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RUNX2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RUNX2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RUNX2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RUNX2 gene:
    Search GeneIP for patents involving RUNX2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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     RUNX2 Proteins, Antibodies, CLIAs, and ELISAs
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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