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RUNX2 Gene

protein-coding   GIFtS: 69
GCID: GC06P045295

Runt-Related Transcription Factor 2


(Previous symbols: CCD, CBFA1, CCD1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Runt-Related Transcription Factor 21 2     PEA2-Alpha A2 3
CBFA11 2 3 5     PEBP2-Alpha A2 3
CCD1 2 5     SL3-3 Enhancer Factor 1 Alpha A Subunit2 3
AML32 3 5     SL3/AKV Core-Binding Factor Alpha A Subunit2 3
CCD11 2     CLCD2 5
Acute Myeloid Leukemia 3 Protein2 3     PEA2aA2
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-12 3     Core-Binding Factor Subunit Alpha-13
OSF-22 3     PEBP2A15
OSF22 3     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, forme fruste, with brachydactyly, and metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly. GO annotations related to this gene include transcription regulatory region DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is RUNX1.

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 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NT_007592.16  NC_018917.2  
Regulatory elements:
   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 Chromatin IP Primers for RUNX2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
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

Explore proteomics data for RUNX2 at MOPED

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
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RUNX2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001015051.3  NP_001019801.3  NP_001265407.1  

    ENSEMBL proteins: 
     ENSP00000461357   ENSP00000420707   ENSP00000360493   ENSP00000360491   ENSP00000458178  
     ENSP00000460188   ENSP00000352514   ENSP00000319087   ENSP00000446290   ENSP00000360486  
    Reactome Protein details: Q13950

    RUNX2 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
    OriGene Purified Protein for RUNX2
    OriGene Protein Over-expression Lysate for RUNX2
    OriGene Custom MassSpec
    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 Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RUNX2

    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 for RUNX2
    OriGene Custom Antibody Services for RUNX2
    Novus Biologicals RUNX2 Antibodies
    Abcam antibodies for RUNX2
    Cloud-Clone Corp. Antibodies for RUNX2
    ThermoFisher Antibodies for RUNX2
    LSBio Antibodies in human, mouse, rat for RUNX2

    RUNX2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for RUNX2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for RUNX2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RUNX2
    Cloud-Clone Corp. CLIAs for RUNX2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR012346 p53/RUNT-type_TF_DNA-bd
     IPR000040 AML1_Runt
     IPR008967 p53-like_TF_DNA-bd
     IPR016554 TF_Runt-rel_RUNX
     IPR013711 RunxI_C_dom

    Graphical View of Domain Structure for InterPro Entry Q13950

    ProtoNet protein and cluster: Q13950

    2 Blocks protein domains:
    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


    RUNX2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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,

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA--
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA--
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity NAS9182765
         
    RUNX2 for ontologies           About GeneDecksing


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

         Selected 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/body  hematopoietic system  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  liver/biliary system  mortality/aging  muscle  nervous system 

    RUNX2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for RUNX2: Runx2tm1Ldq Runx2tm1.1Jals Runx2tm1Kish

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RUNX2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RUNX2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RUNX2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RUNX2

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  NWAACCACADNN 

    miRNA
    Products:
        
    miRTarBase miRNAs that target RUNX2:
    hsa-mir-30b-5p (MIRT046115), hsa-mir-30a-5p (MIRT028618), hsa-mir-505-5p (MIRT037957), hsa-mir-30d-5p (MIRT025969), hsa-mir-204-5p (MIRT006895), hsa-mir-484 (MIRT041692), hsa-mir-335-5p (MIRT005888), hsa-mir-433-3p (MIRT007225), hsa-mir-338-3p (MIRT007289), hsa-mir-135b-5p (MIRT003597), hsa-mir-155-5p (MIRT004707), hsa-mir-124-3p (MIRT022898)

    Block miRNA regulation of human, mouse, rat RUNX2 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for RUNX2
    Predesigned siRNA for gene silencing in human, mouse, rat RUNX2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RUNX2

    Clone
    Products:
         
    OriGene clones in human, mouse for RUNX2 (see all 20)
    OriGene ORF clones in mouse, rat for RUNX2
    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
    Products:
         
    GenScript Custom overexpressing Cell Line Services for RUNX2
    ESI BIO PureStem Progenitors for 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


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RUNX2_HUMAN, Q13950: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    extracellular3
    cytoskeleton2
    cytosol2
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    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


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for RUNX2 About   (see all 18)  
    See pathways by source

    SuperPathContained pathways About
    1Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40
    2Circadian Repression of Expression by REV-ERBA
    YAP1- and WWTR1 (TAZ)-stimulated gene expression0.40
    3Wnt signaling pathway (KEGG)
    Wnt Signaling Pathway NetPath0.37
    4Signaling by BMP
    BMP signalling and regulation0.35
    5Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for RUNX2
        Notch Signaling Pathways
    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

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

    1 Reactome Pathway for RUNX2
        YAP1- and WWTR1 (TAZ)-stimulated gene expression


    1 Kegg Pathway  (Kegg details for RUNX2):
        Transcriptional misregulation in cancer


    RUNX2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for RUNX2

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

    Selected Interacting proteins for RUNX2 (Q139501, 3 ENSP000003525144) via UniProtKB, MINT, STRING, and/or I2D (see all 111)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD6O435411, 3, ENSP000002888404EBI-976402,EBI-976374 I2D: score=2 STRING: ENSP00000288840
    HDAC4P565243, ENSP000002646064I2D: score=5 STRING: ENSP00000264606
    FOSP011003, ENSP000003062454I2D: score=3 STRING: ENSP00000306245
    HDAC3O153793, ENSP000003029674I2D: score=3 STRING: ENSP00000302967
    HDAC6Q9UBN73, ENSP000003340614I2D: score=3 STRING: ENSP00000334061
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 33):    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RUNX2

    Selected Novoseek inferred 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)



    RUNX2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RUNX2 gene (4 alternative transcripts): 
    NM_001015051.3  NM_001024630.3  NM_001278478.1  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
    Products:
         
    Block miRNA regulation of human, mouse, rat RUNX2 using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for RUNX2
    Predesigned siRNA for gene silencing in human, mouse, rat RUNX2
    Clone
    Products:
         
    OriGene clones in human, mouse for RUNX2 (see all 20)
    OriGene ORF clones in mouse, rat for RUNX2
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RUNX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RUNX2
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for RUNX2
    OriGene qSTAR qPCR primer pairs in human, mouse for RUNX2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RUNX2
      QuantiTect SYBR Green Assays in human, mouse, rat RUNX2
      Search QuantiFast Probe-based Assays in human, mouse, rat RUNX2

    Additional mRNA 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 AA970073 AI738968 AW592551 AI394663 
    AA779817 AW296595 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RUNX2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RUNX2 Expression
    About this image


    RUNX2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 89 entries
             Hypertrophic Chondrocytes Stylopod Growth Plate
             Rib
             Mesenchymal Precursor Cells (STRO-3 selected)
             Chondrocyte-like cells
             skeleton/pectoral girdle and thoracic body wall/scapula   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 44 entries
             Glenoid Fossa Cells Temporomandibular Joint
             Chondrocyte-like cells
             skeleton/cranium/viscerocranium   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 6 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
             skeleton/cranium/viscerocranium   
     
     Limb (Muscoskeletal System)    fully expand to see all 6 entries
             Mesenchymal Condensate Cells Stylopod
             Pelvic Girdle
     
     Head Mesenchyme (Muscoskeletal System)    fully expand to see all 3 entries
             Osteochondro Progenitor Cells Branchial Arch 1
    RUNX2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RUNX2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.535845

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

        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of animals.

    Orthologs for RUNX2 gene from Selected species (see all 14)    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 93.86(n)1
    98.66(a)1
      17 (21.33 cM)5
    123931  NM_001146038.21  NP_001139510.11 
     444959875 
    chicken
    (Gallus gallus)
    Aves RUNX21 runt-related transcription factor 2 87.78(n)
    96.61(a)
      373919  NM_204128.1  NP_989459.1 
    lizard
    (Anolis carolinensis)
    Reptilia RUNX26
    runt-related transcription factor 2
    92(a)
    1 ↔ 1
    1(138869687-139054248)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia runx21 runt-related transcription factor 2 81.13(n)
    91.45(a)
      100189546  NM_001135116.1  NP_001128588.1 
    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-16
    Protein RNT-1 (rnt-1) mRNA, complete cds
    28(a)
    1 → many
    I(5776154-5788609) WBGene00004393


    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)
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    Paralogs for RUNX2 gene
    RUNX12  RUNX32  
    5 SIMAP similar genes for RUNX2 using alignment to 10 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, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RUNX2 (see all 4196)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0640914
    Cleidocranial dysplasia (CLCD)4--see VAR_0640912 M V mis40--------
    VAR_0121484
    Cleidocranial dysplasia (CLCD)4--see VAR_0121482 R Q mis40--------
    VAR_0641064
    Cleidocranial dysplasia (CLCD)4--see VAR_0641062 A V mis40--------
    VAR_0640894
    Cleidocranial dysplasia (CLCD)4--see VAR_0640892 R P mis40--------
    VAR_0121354
    Cleidocranial dysplasia (CLCD)4--see VAR_0121352 C R mis40--------
    VAR_0640974
    Cleidocranial dysplasia (CLCD)4--see VAR_0640972 A P mis40--------
    VAR_0121384
    Cleidocranial dysplasia (CLCD)4--see VAR_0121382 M R mis40--------
    VAR_0640814
    Cleidocranial dysplasia (CLCD)4--see VAR_0640812 Q L mis40--------
    VAR_0121454
    Cleidocranial dysplasia (CLCD)4--see VAR_0121452 T A mis40--------
    VAR_0641084
    Cleidocranial dysplasia (CLCD)4--see VAR_0641082 T N mis40--------

    HapMap Linkage Disequilibrium report for RUNX2 (45295894 - 45545894 bp, first 250kb of RUNX2)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for RUNX2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2476554CNV Deletion19546169
    esv270815CNV Insertion20981092
    nsv527552CNV Loss19592680
    nsv830652CNV Loss17160897

    Human Gene Mutation Database (HGMD): RUNX2
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing RUNX2:
    Birth Defects
    SeqTarget long-range PCR primers 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600211   
    OMIM disorders: 119600  156510  
    UniProtKB/Swiss-Prot: RUNX2_HUMAN, Q13950
  • 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. 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. 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)

  • Selected diseases for RUNX2 (see all 73):    
    About MalaCards
    cleidocranial dysplasia, forme fruste, with brachydactyly    metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly    cleidocranial dysplasia    cleidocranial dysplasia, forme fruste, dental anomalies only
    metaphyseal dysplasia maxillary hypoplasia brachydactyly    myeloid leukemia    aortic valve disease    ossifying fibroma
    acrocephalosyndactylia    hypophosphatasia    fibrous dysplasia    hyperphosphatemia
    saethre-chotzen syndrome    core binding factor acute myeloid leukemia    chondroma    metaphyseal dysplasia
    skeletal dysplasias    acute myeloid leukemia    tooth agenesis    brachydactyly

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

    RUNX2 for disorders           About GeneDecksing

    Selected Novoseek inferred 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
    GeneReviews: RUNX2
    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)
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    PubMed articles for RUNX2 gene, integrated from 10 sources (see all 879):
    (articles sorted by number of sources associating them with RUNX2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. (PubMed id 20648631)1, 2, 4 Ott C.E.... Klopocki E. (Hum. Mutat. 2010)
    2. 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. (J. Biol. Chem. 2006)
    3. 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. (J. Cell. Physiol. 2006)
    4. MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2. (PubMed id 11965546)1, 2, 9 Pelletier N.... Yang X.-J. (Oncogene 2002)
    5. 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. (Am. J. Hum. Genet. 2002)
    6. Variation in femoral length is associated with polymorphisms in RUNX2 gene. (PubMed id 16198163)1, 4, 9 Ermakov S....Livshits G. (Bone 2006)
    7. A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia. (PubMed id 20082269)1, 2, 9 Wang G.X.... Song F.L. (Genet. Mol. Res. 2010)
    8. RUNX2 mutations in cleidocranial dysplasia patients. (PubMed id 19744171)1, 2, 9 Ryoo H.M.... Kim J.W. (Oral Dis. 2010)
    9. Novel promoter polymorphism in RUNX2 is associated with serum triglyceride level. (PubMed id 18688176)1, 4, 9 Shin H.D....Han B.G. (Mol. Cells 2008)
    10. Promoter 2 -1025 T/C polymorphism in the RUNX2 gene is associated with femoral neck bmd in Spanish postmenopausal women. (PubMed id 17878995)1, 4, 9 Bustamante M....Grinberg D. (Calcif. Tissue Int. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 860 HGNC: 10472 AceView: RUNX2.1 Ensembl:ENSG00000124813 euGenes: HUgn860
    ECgene: RUNX2 Kegg: 860 H-InvDB: RUNX2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=RUNX2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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