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Aliases & Descriptions for CBFB
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases CBF-beta 3 PEA2-beta 3 PEBP2-beta 3 PEBP2B 1 , 2
Descriptions Polyomavirus enhancer-binding protein 2 beta subunit 3 SL3-3 enhancer factor 1 beta subunit 2 SL3-3 enhancer factor 1 subunit beta 3 SL3/AKV core-binding factor beta subunit 2 , 3 core-binding factor, beta subunit 2 polyomavirus enhancer binding protein 2, beta subunit 2
Search outside databases for aliases for CBFB genePrevious GC identifers: GC16P057757 GC16P067440 GC16P066798 GC16P066839
Summaries for CBFB (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for CBFB : The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcriptionfactor belonging to the PEBP2/CBF transcription factor family which master-regulates a host ofgenes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit isa non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit asthe complex binds to the core site of various enhancers and promoters, including murine leukemiavirus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicinggenerates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, apericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consistingof the N terminus of core-binding factor beta in a fusion with the C-terminal portion of thesmooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acutemyeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms havebeen found for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: PEBB_HUMAN, Q13951 Function : 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, LCK, IL-3 andGM-CSF promoters. CBFB enhances DNA binding by RUNX1
Gene Wiki entry for CBFB
Genomic Location for CBFB
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the CBFB gene Entrez Gene cytogenetic band: 16q22.1 Ensembl cytogenetic band: 16q22.1 HGNC cytogenetic band: 16q22.1 CBFB Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 16 GeneLoc Exon Structure
GeneLoc location for GC16P065620:
(about GC identifiers )
Start:
65,620,551 bp from pter
End:
65,692,462 bp from pter
Size:
71,912 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000016.8 NT_010498.15 Proteins for CBFB
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: PEBB_HUMAN, Q13951 (See
protein sequence )Recommended Name: Core-binding factor subunit beta Size : 182 amino acids; 21508 Da
Subunit : Heterodimer with RUNX1
Subcellular location : Nucleus (Potential)
PDB structures from and Proteopedia : 1CL3 (3D)
 1E50 (3D)
 1H9D (3D)
 
Secondary accessions : Q13124 Q9HCT2Alternative splicing : 2 isoforms : Q13951-1 Q13951-2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_001746.1 NP_074036.1 ENSEMBL proteins: ENSP00000290858 Human Recombinant Proteins                OriGene Purified Recombinant Human Proteins (see all 2 ): CBFB 1 Gene Ontology (GO) cellular component term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005634 nucleus
IEA --
About this table Antibodies for CBFB: Assays for CBFB:
Protein
Domains/ Families for CBFB(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q13951 ProtoNet protein and cluster: Q13951
1 Blocks protein family : IPB003417 Core binding factor UniProtKB/Swiss-Prot: PEBB_HUMAN, Q13951 Similarity : Belongs to the CBF-beta family
Gene Function for CBFB
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001755 Applied Biosystems Silencer ® siRNAs for CBFB Sigma-Aldrich siRNA for CBFB Sigma-Aldrich shRNA for CBFB Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001755                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001755                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001755  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_022845 UniProtKB/Swiss-Prot: PEBB_HUMAN, Q13951 Function : 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, LCK, IL-3 andGM-CSF promoters. CBFB enhances DNA binding by RUNX1
Genatlas biochemistry entry for CBFB :core binding factor to the enhancer of T cell receptor genes,beta subunit,altered in acute myeloidleukemia (AML-M4Eo) with inversion inv(16)(p13;q22) or t(16;16)(p13;q22) translocation
15/18 MGI mutant phenotypes (inferred from 9 alleles ) (MGI details for Cbfb) (see all 18
):4 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for CBFB
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for CBFB 5/13 Interacting proteins for CBFB (ENSP00000290858 3 Q13951 2 ) via UniProtKB, MINT, and/or STRING (see all 13
)About this table 5 Gene Ontology (GO) biological process terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0001649 osteoblast differentiation
IEA -- GO:0030098 lymphocyte differentiation
IEA -- GO:0030099 myeloid cell differentiation
IEA -- GO:0045944 positive regulation of transcription from RNA polymerase II promoter
IEA -- GO:0048469 cell maturation
IEA --
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Drugs & Compounds for CBFB (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for CBFB
Transcripts for CBFB(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001755 Sigma-Aldrich siRNA for CBFB Sigma-Aldrich shRNA for CBFB Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001755 NM_022845
REFSEQ mRNAs for CBFB gene (2 alternative transcripts): NM_001755.2 NM_022845.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001755 NM_022845
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001755                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001755                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001755  
Additional cDNA sequence: AF294326.1 AK290462.1 AK291834.1 AK311084.1 AK311724.1 BC018509.1 BT006862.1 CR594690.1 CR608601.1 CR611500.1 CR614949.1 CR618498.1 L20298.1 X87833.1
11 DOTS entries : DT.91696141 DT.97854197 DT.100694704 DT.100781415 DT.95199052 DT.95219068 DT.91658411 DT.40244814 DT.95199095 DT.97795389 DT.414896
24/30 AceView cDNA sequences (see all 30
):CR618498 BU858589 W74323 R74019 BI962672 BU541927 NM_022845 BI789190 AL561208 BX372258 BX328185 CB159140 CK821239 AW955066 BG029644 BQ954600 AA358402 AI766036 BI035784 BI035782 BG698954 N24456 CD696664 BX436408
highest scoring ESTs for CBFB :L20298 AA336594 AA352073 AA361743 AA371340 AI766036 AL121151 AL561208 AU118397 AU119080
Unigene Cluster for CBFB: Core-binding factor, beta subunit Hs.460988 [show with all ESTs ] Unigene Representative Sequence: NM_001755 GeneLoc Exon Structure 4 Alternative Splicing Database (ASD) splice patterns (SP) for CBFB ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c SP1 :     -             -         SP2 :     -           -   -         SP3 :                         SP4 :                        
About this scheme ECgene alternative splicing isoforms for CBFB 1 Ensembl transcript including schematic representation : ENST00000290858
Expression for CBFB
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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CBFB expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for CBFB 1 / 2 / 3
5 probe-sets matching CBFB gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: AGCCCTTTTTSOURCE GeneReport for Unigene cluster: Hs.460988 Expression variation in blood from EXPOLDB for CBFB
Orthologs for CBFB
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for CBFB gene from 5/10 species (see all 10
)
About this table Species with no ortholog for CBFB ENSEMBL Gene Tree for CBFB Paralogs for CBFB (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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SNPs/Variants for CBFB (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for CBFB (up to first 250kb)
Disorders & Mutations for CBFB
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 121360 UniProtKB/Swiss-Prot: PEBB_HUMAN, Q13951
A chromosomal aberration involving CBFB is associated with acute myeloid leukemia of M4EOsubtype. Pericentric inversion inv(16)(p13;q22). The inversion produces a fusion protein thatconsists of the 165 N-terminal residues of CBF-beta (PEPB2) with the tail region of MYH11
10/14 Novoseek disease relationships for CBFB gene (see all 14
)
About this table Human Gene Mutation Database : CBFB Genetic Association Database: CBFB
Medical News for CBFB (Possibly Related Articles in
Doctor's Guide )
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Publications for CBFB (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/137 PubMed articles for CBFB gene (see all 137
): Structure of the leukemia-associated human CBFB gene. (PubMed id 7607682) 1, 3, 4, 6 Hajra A. and Collins F.S. (1995) Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia. (PubMed id 8351518) 2, 3, 4 Liu P.... Collins F.S. (1993) Structural basis for the heterodimeric interaction between the acute leukaemia-associated transcription factors AML1 and CBFbeta. (PubMed id 10856244) 1, 3, 4 Warren A.J.... Rabbitts T.H. (2000) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) The leukemia-associated AML1 (Runx1) -- CBF beta complex functions as a DNA-induced molecular clamp. (PubMed id 11276260) 3, 4 Bravo J.... Warren A.J. (2001) Molecular insights into PEBP2/CBF beta-SMMHC associated acute leukemia revealed from the structure of PEBP2/CBF beta. (PubMed id 10404215) 3, 4 Goger M.... Werner M.H. (1999) Structure of the leukemia-associated human CBFB gene. (PubMed id 9064279) 3, 4 Hajra A. and Collins F.S. (1996) Acute myeloid leukemia with Inv (16) produces a chimeric transcription factor with a myosin heavy chain tail. (PubMed id 7587111) 2, 3 Liu P....Collins F.S. (1994) Cbfb enhances the osteogenic differentiation of both human and mouse mesenchymal stem cells induced by Cbfa-1 via reducing its ubiquitination-mediated degradation. (PubMed id 17379770) 1, 3 Lien C.Y....Su Y. (2007) Frequent downregulation of the runt domain transcription factors RUNX1, RUNX3 and their cofactor CBFB in gastric cancer. (PubMed id 15386419) 1, 3 Sakakura C....Ito Y. (2005)
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Genome Databases showing CBFB
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing CBFB
(According to HUGE )
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Specialized Databases showing CBFB (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for CBFB (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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