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Index > Protein center > RUNX2(Gene name) > Human
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  • RUNX2 (Gene name),
  • Runt-related transcription factor 2 (Protein name ),  RUNX2_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Gene name:
    RUNX2(AML3;CBFA1;OSF2;PEBP2A);
    Protein name:
    Runt-related transcription factor 2;
    Alternative:
    Core-binding factor subunit alpha-1(CBF-alpha-1);Acute myeloid leukemia 3 protein;Osteoblast-specific transcription factor 2(OSF-2);Oncogene AML-3;SL3-3 enhancer factor 1 alpha A subunit;Polyomavirus enhancer-binding protein 2 alpha A subunit(PEA2-alpha A;PEBP2-alpha A);SL3/AKV core-binding factor alpha A subunit;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Interaction with SATB2 results in enhanced DNA binding and transactivation by these transcription factors (By similarity). Heterodimer of an alpha and a beta subunit. Interacts with HIVEP3 and HIPK3 (By similarity). 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 KAT6A and KAT6B. Binds to cyclin B1 CCNB1.
    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.
    Subcellular Location:
    Nucleus
    Protein Attributes:
    Sequence length:
    521
    Sequence:
    50:
    MASNSLFSTV | TPCQQNFFWD | PSTSRRFSPP | SSSLQPGKMS | DVSPVVAAQQ | 
    100:
    QQQQQQQQQQ | QQQQQQQQQQ | QEAAAAAAAA | AAAAAAAAAV | PRLRPPHDNR | 
    150:
    TMVEIIADHP | AELVRTDSPN | FLCSVLPSHW | RCNKTLPVAF | KVVALGEVPD | 
    200:
    GTVVTVMAGN | DENYSAELRN | ASAVMKNQVA | RFNDLRFVGR | SGRGKSFTLT | 
    250:
    ITVFTNPPQV | ATYHRAIKVT | VDGPREPRRH | RQKLDDSKPS | LFSDRLSDLG | 
    300:
    RIPHPSMRVG | VPPQNPRPSL | NSAPSPFNPQ | GQSQITDPRQ | AQSSPPWSYD | 
    350:
    QSYPSYLSQM | TSPSIHSTTP | LSSTRGTGLP | AITDVPRRIS | DDDTATSDFC | 
    400:
    LWPSTLSKKS | QAGASELGPF | SDPRQFPSIS | SLTESRFSNP | RMHYPATFTY | 
    450:
    TPPVTSGMSL | GMSATTHYHT | YLPPPYPGSS | QSQSGPFQTS | STPYLYYGTS | 
    500:
    SGSYQFPMVP | GGDRSPSRML | PPCTTTSNGS | TLLNPNLPNQ | NDGVDADGSH | 
    521:
    SSSPTVLNSS | GRMDESVWRP | Y
    3D Structure:
    N/A
    Predicted Eptitope:
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    EIAab Sequence  Vaild Sequence:
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    Related Databases
    MIM:
    String:
    KEGG:
    Pfam:
    UniGene:
    SMR:
    Uniprot:
     
    FOR
    ELISA Kit for Human Runt-related transcription factor 2
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    ELISA Kit for Human Runt-related transcription factor 2
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    ELISA Kit for Human Runt-related transcription factor 2
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    CLIA Kit for Human Runt-related transcription factor 2
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    CLIA Kit for Human Runt-related transcription factor 2
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    CLIA Kit for Human Runt-related transcription factor 2
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    Packing:
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    Polyclonal Antibody for Human Runt-related transcription factor 2
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    P9029Rb-m
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    Packing:
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    Polyclonal Antibody for Human Runt-related transcription factor 2
    Cat.:
    P9029Rb-h
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Runt-related transcription factor 2
    Monoclonal Antibody for Human Runt-related transcription factor 2
    Monoclonal Antibody for Human Runt-related transcription factor 2
    Monoclonal Antibody for Human Runt-related transcription factor 2
    Protein for Human Runt-related transcription factor 2
    Protein for Human Runt-related transcription factor 2
    Protein for Human Runt-related transcription factor 2

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    References
    1. 1.
      "Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia."
      Mundlos S. , Otto F. , Mundlos C. , Mulliken J.B. , Aylsworth A.S. , Albright S. , Lindhout D. , Cole W.G. , Henn W. , Knoll J.H.M. , Owen M.J. , Mertelsmann R. , Zabel B.U. , Olsen B.R.
      Cell89:773-779(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2);VARIANT CLCD ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-84 INS;VARIANT 78-ALA--ALA-83 DEL
    2. 2.
      "Genomic organization, expression of the human CBFA1 gene, and evidence for an alternative splicing event affecting protein function."
      Geoffroy V. , Corral D.A. , Zhou L. , Lee B. , Karsenty G.
      Mamm. Genome9:54-57(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];ALTERNATIVE SPLICING (ISOFORMS 1 AND 3)
    3. 3.
      "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J. , Palmer S.A. , Sims S.K. , Edwards C.A. , Ashurst J.L. , Wilming L. , Jones M.C. , Horton R. , Hunt S.E. , Scott C.E. , Gilbert J.G.R. , Clamp M.E. , Bethel G. , Milne S. , Ainscough R. , Almeida J.P. , Ambrose K.D. , Andrews T.D. , more...
      Nature425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    4. 4.
      "Genomic structure and isoform expression of the mouse, rat and human Cbfa1/Osf2 transcription factor."
      Xiao Z.S. , Thomas R. , Hinson T.K. , Quarles L.D.
      Gene214:187-197(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 1-19 (ISOFORM 1)
    5. 5.
      "The cDNA cloning of the transcripts of human PEBP2alphaA/CBFA1 mapped to 6p12.3-p21.1, the locus for cleidocranial dysplasia."
      Zhang Y.-W. , Bae S.-C. , Takahashi E. , Ito Y.
      Oncogene15:367-371(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 60-521 (ISOFORM 3)
    6. 6.
      "Regulation of osteocalcin gene expression by a novel Ku antigen transcription factor complex."
      Willis D.M. , Loewy A.P. , Charlton-Kachigian N. , Shao J.-S. , Ornitz D.M. , Towler D.A.
      J. Biol. Chem.277:37280-37291(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH XRCC5 AND XRCC6
      tissue: Osteoblast.
    7. 7.
      "MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2."
      Pelletier N. , Champagne N. , Stifani S. , Yang X.-J.
      Oncogene21:2729-2740(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH KAT6A AND KAT6B;FUNCTION
    8. 8.
      "Cell cycle-dependent phosphorylation of the RUNX2 transcription factor by cdc2 regulates endothelial cell proliferation."
      Qiao M. , Shapiro P. , Fosbrink M. , Rus H. , Kumar R. , Passaniti A.
      J. Biol. Chem.281:7118-7128(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH CCNB1;PHOSPHORYLATION AT SER-451 BY CDK1;MUTAGENESIS OF SER-451
    9. 9.
      "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
      Cantin G.T. , Yi W. , Lu B. , Park S.K. , Xu T. , Lee J.-D. , Yates J.R. III
      J. Proteome Res.7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-340 (ISOFORM 3);IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    10. 10.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN MDMHB
    11. 11.
      "Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia."
      Lee B. , Thirunavukkarasu K. , Zhou L. , Pastore L. , Baldini A. , Hecht J. , Geoffroy V. , Ducy P. , Karsenty G.
      Nat. Genet.16:307-310(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CLCD ARG-175 AND ASN-191
    12. 12.
      "Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia."
      Quack I. , Vonderstrass B. , Stock M. , Aylsworth A.S. , Becker A. , Brueton L. , Lee P.J. , Majewski F. , Mulliken J.B. , Suri M. , Zenker M. , Mundlos S. , Otto F.
      Am. J. Hum. Genet.65:1268-1278(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CLCD ARG-113; ARG-118; CYS-121; ARG-123; ARG-205; GLN-225; TRP-225 AND SER-511
    13. 13.
      "CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia."
      Zhou G. , Chen Y. , Zhou L. , Thirunavukkarasu K. , Hecht J. , Chitayat D. , Gelb B.D. , Pirinen S. , Berry S.A. , Greenberg C.R. , Karsenty G. , Lee B.
      Hum. Mol. Genet.8:2311-2316(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CLCD ASN-133 DEL; GLN-169; ARG-175; GLN-190; ASN-191; CYS-193; PHE-199; ALA-200; ARG-209 AND GLN-225
    14. 14.
      "PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients."
      Zhang Y.-W. , Yasui N. , Kakazu N. , Abe T. , Takada K. , Imai S. , Sato M. , Nomura S. , Ochi T. , Okuzumi S. , Nogami H. , Nagai T. , Ohashi H. , Ito Y.
      Gene244:21-28(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CLCD SER-197
    15. 15.
      "A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia."
      Giannotti A. , Tessa A. , Patrono C. , De Florio L. , Velardo M. , Dionisi-Vici C. , Bertini E. , Santorelli F.M.
      Hum. Mutat.16:277-277(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CLCD TRP-190
    16. 16.
      "Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations."
      Yoshida T. , Kanegane H. , Osato M. , Yanagida M. , Miyawaki T. , Ito Y. , Shigesada K.
      Am. J. Hum. Genet.71:724-738(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CLCD TRP-190; SER-197; ASN-218; ILE-220; TRP-225 AND GLN-225;CHARACTERIZATION OF VARIANTS CLCD TRP-190; SER-197; ASN-218; ILE-220; TRP-225 AND GLN-225
    17. 17.
      "New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia."
      Machuca-Tzili L. , Monroy-Jaramillo N. , Gonzalez-del Angel A. , Kofman-Alfaro S.
      Clin. Genet.61:349-353(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CLCD LEU-53
    18. 18.
      "Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia."
      Morava E. , Karteszi J. , Weisenbach J. , Caliebe A. , Mundlos S. , Mehes K.
      Eur. J. Pediatr.161:619-622(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CLCD PRO-169
    19. 19.
      "Mutations in the RUNX2 gene in patients with cleidocranial dysplasia."
      Otto F. , Kanegane H. , Mundlos S.
      Hum. Mutat.19:209-216(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CLCD GLY-156; PRO-169; TRP-190; LYS-201; TRP-225; GLN-225 AND VAL-362
    20. 20.
      "Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype."
      Kim H.-J. , Nam S.-H. , Kim H.-J. , Park H.-S. , Ryoo H.-M. , Kim S.-Y. , Cho T.-J. , Kim S.-G. , Bae S.-C. , Kim I.-S. , Stein J.L. , van Wijnen A.J. , Stein G.S. , Lian J.B. , Choi J.-Y.
      J. Cell. Physiol.207:114-122(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CLCD GLY-131 AND GLN-225
    21. 21.
      "A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia."
      Wang G.X. , Sun R.P. , Song F.L.
      Genet. Mol. Res.9:41-47(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CLCD ILE-420
    22. 22.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CLCD ASN-118; SER-131; CYS-131; PRO-136; ASP-156; VAL-175; LYS-175; SER-187; GLN-193; ILE-200; HIS-209; PRO-211; GLN-218; GLU-218; LEU-225; GLY-228; ARG-233; ASN-287 AND ASN-420
    23. 23.
      "RUNX2 mutations in cleidocranial dysplasia patients."
      Ryoo H.M. , Kang H.Y. , Lee S.K. , Lee K.E. , Kim J.W.
      Oral Dis.16:55-60(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CLCD TRP-225
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