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:
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
Vaild Sequence:
Related Databases
Uniprot:
ELISA Kit
CLIA Kit
Polyclonal Antibody
Monoclonal Antibody
Protein
FOR
Human
Rat
Mouse
ELISA Kit for Human Runt-related transcription factor 2
ELISA Kit for Human Runt-related transcription factor 2
ELISA Kit for Human Runt-related transcription factor 2
CLIA Kit for Human Runt-related transcription factor 2
CLIA Kit for Human Runt-related transcription factor 2
CLIA Kit for Human Runt-related transcription factor 2
Polyclonal Antibody for Human Runt-related transcription factor 2
Polyclonal Antibody for Human Runt-related transcription factor 2
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
R&D Technical Data
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Precision
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Recovery
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Linearity
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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
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[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)
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[
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.
[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.
[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.
[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.
[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.
[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.
[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 .
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FORGE Canada Consortium
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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 : INVOLVEMENT IN MDMHB
11.
[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.
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Quack I.
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Stock M.
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[
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.
"CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia."
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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.
"PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients."
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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.
[15/1/25 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.
[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.
[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.
[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.
[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.
"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.
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van Wijnen A.J.
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Stein G.S.
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Lian J.B.
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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.
[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.
"Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia."
Ott C.E.
,
Leschik G.
,
Trotier F.
,
Brueton L.
,
Brunner H.G.
,
Brussel W.
,
Guillen-Navarro E.
,
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,
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,
Kotzot D.
,
Lane A.
,
Lee-Kirsch M.A.
,
Morlot S.
,
Simon M.E.H.
,
Steichen-Gersdorf E.
,
Tegay D.H.
,
Peters H.
,
Mundlos S.
,
Klopocki E.
more...
Hum. Mutat.31:E1587-E1593(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 : 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.
[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