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

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)
About This Section

Aliases
Runt-Related Transcription Factor 21 2     PEA2-Alpha A2 3
CBFA11 2 3 5     PEBP2-Alpha A2 3
AML32 3 5     SL3-3 Enhancer Factor 1 Alpha A Subunit2 3
CCD1 2     SL3/AKV Core-Binding Factor Alpha A Subunit2 3
CCD11 2     CLCD2
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RUNX2 Gene:
This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt
DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and
acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can
bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Mutations in this
gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants
that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing.
(provided by RefSeq, Jul 2008)

GeneCards Summary for RUNX2 Gene: 
RUNX2 (runt-related transcription factor 2) is a protein-coding gene. Diseases associated with RUNX2 include cleidocranial dysplasia, and metaphyseal dysplasia - maxillary hypoplasia - brachydacty, and among its related super-pathways are Gene Expression and Development Hedgehog and PTH signaling pathways in bone and cartilage development. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein domain specific binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for RUNX2 at MOPED 

Post-translational modifications:

  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13950

  • RUNX2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RUNX2 Protein Expression
    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
    Human Recombinant Protein Products for RUNX2: 
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    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 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 

    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 for RUNX2
    OriGene Custom Antibody Services for RUNX2
    GenScript Custom Superior Antibodies 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 

    Assay Products for RUNX2: 
    Browse Kits and Assays available from EMD Millipore
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    R&D Systems Transcription Factor Binding & Immunoprecipitation Assays for RUNX2 (RUNX2/CBFA1)
    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)
    About This Section
    5/7 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 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 IPI11965546
    GO:0005524ATP binding IEA--
         
    RUNX2 for ontologies           About GeneDecksing


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

         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

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RUNX2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

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

    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 RNAi products in human, mouse, rat for RUNX2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RUNX2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RUNX2
    Sirion Biotech Customized adenovirus for overexpression of RUNX2

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    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
    Sirion Biotech Customized lentivirus for stable overexpression of RUNX2 
                         Customized lentivirus expression plasmids for stable overexpression of 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


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RUNX2 About   (see all 18)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Generic Transcription Pathway
    Gene Expression0.47
    Generic Transcription Pathway0.47
    2Development Hedgehog and PTH signaling pathways in bone and cartilage development
    Development Hedgehog and PTH signaling pathways in bone and cartilage development0.97
    3Transcription Role of VDR in regulation of genes involved in osteoporosis
    Transcription Role of VDR in regulation of genes involved in osteoporosis0.80
    4Wnt signaling pathway
    Wnt Signaling Pathway NetPath0.37
    5Signaling by BMP
    BMP signalling and regulation0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    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

    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

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

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


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


    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)

    5/69 Interacting proteins for RUNX2 (Q139501, 3 ENSP000003525144) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    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): 5/32 biological process terms (GO ID links to tree view) (see all 32):    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, Ligands according to IUPHAR, 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 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)

    Search CenterWatch for drugs/clinical trials and news about RUNX2

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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    About This Section

    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
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    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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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RUNX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RUNX2
    Sirion Biotech Customized lentivirus for stable overexpression of RUNX2 
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RUNX2
      Search QIAGEN 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:

    AF053952 AW469546 BX108677 AW850703 AW592551 AI738968 AA970073 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™, 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)      RUNX2 embryonic expression: see
    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 
     5/27 selected tissues (see all 27) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 111 entries
             Hypertrophic Chondrocytes Stylopod Growth Plate
             Mandibular Condyle
             Mesenchymal Precursor Cells (STRO-3 selected)
             Chondrocyte-like cells ( Direct differentiation of human embryonic stem cells into...
             skeleton/cranium/viscerocranium   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 56 entries
             Glenoid Fossa Cells Temporomandibular Joint
             Chondrocyte-like cells ( Direct differentiation of human embryonic stem cells into...
             skeleton/cranium/viscerocranium   
     
     Tooth (Integumentary System)    fully expand to see all 9 entries
             Odontoblasts Dental Pulp
             visceral organ/oral region/lower jaw   
     
     Limb (Muscoskeletal System)    fully expand to see all 8 entries
             Mesenchymal Condensate Cells Stylopod
             Stylopod
             limb/forelimb   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 6 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
             skeleton/cranium/viscerocranium   

    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 6/13 species (see all 13)    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
    Uncharacterized protein
    95(a)
    1 ↔ 1
    1(138869687-139054248)
    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, 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) 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

    10/4196 SNPs in RUNX2 are shown (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
    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array 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.)
    About This Section
    OMIM gene information: 600211   
    OMIM disorders: 119600  
    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

  • 20/64 diseases for RUNX2 (see all 64):    About MalaCards
    cleidocranial dysplasia    metaphyseal dysplasia - maxillary hypoplasia - brachydacty    myeloid leukemia    acute myeloid leukemia
    ossifying fibroma    fibrous dysplasia    acrocephalosyndactylia    hypophosphatasia
    saethre-chotzen syndrome    pfeiffer syndrome    chondroma    hyperphosphatemia
    craniofacial abnormalities    skeletal dysplasias    tooth agenesis    brachydactyly
    dysostosis    osteopetrosis    leukemia    osteosarcoma

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

    RUNX2 for disorders           About GeneDecksing

    10/44 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)
    About This Section

    PubMed articles for RUNX2 gene, integrated from 9 sources (see all 871):
    (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. (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. (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. (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. (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. (2002)
    6. Variation in femoral length is associated with polymorphisms in RUNX2 gene. (PubMed id 16198163)1, 4, 9 Ermakov S....Livshits G. (2006)
    7. 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)
    8. RUNX2 mutations in cleidocranial dysplasia patients. (PubMed id 19744171)1, 2, 9 Ryoo H.M....Kim J.W. (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. (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. (2007)

    (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 Kegg: 860 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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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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