Human Gene CBFB (uc002erb.3) Description and Page Index
  Description: Homo sapiens core-binding factor, beta subunit (CBFB), transcript variant 1, mRNA.
RefSeq Summary (NM_022845): The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr16:67,063,050-67,134,958 Size: 71,909 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr16:67,063,311-67,132,681 Size: 69,371 Coding Exon Count: 6 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:67,063,050-67,134,958)mRNA (may differ from genome)Protein (187 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB
Wikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CBFB
CDC HuGE Published Literature: CBFB

-  MalaCards Disease Associations
  MalaCards Gene Search: CBFB
Diseases sorted by gene-association score: acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)* (371), leukemia, acute myeloid* (30), cleidocranial dysplasia (19), myeloid leukemia (18), core binding factor acute myeloid leukemia (9), leukemia (7), parietal foramina (7), lymphoplasmacytic lymphoma (7), imperforate anus (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.99 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 497.78 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -155.10261-0.594 Picture PostScript Text
3' UTR -541.812277-0.238 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF02312 - Core binding factor beta subunit

SCOP Domains:
50723 - Core binding factor beta, CBF

ModBase Predicted Comparative 3D Structure on Q13951-2
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsemblFlyBase  
 Protein SequenceProtein SequenceProtein Sequence  
 AlignmentAlignmentAlignment  

-  Descriptions from all associated GenBank mRNAs
  BC018509 - Homo sapiens core-binding factor, beta subunit, mRNA (cDNA clone MGC:9276 IMAGE:3867061), complete cds.
AK290462 - Homo sapiens cDNA FLJ75917 complete cds, highly similar to Homo sapiens core-binding factor, beta subunit (CBFB), transcript variant 2, mRNA.
AK291834 - Homo sapiens cDNA FLJ76413 complete cds, highly similar to Homo sapiens core-binding factor, beta subunit (CBFB), transcript variant 1, mRNA.
CU676254 - Synthetic construct Homo sapiens gateway clone IMAGE:100017980 5' read CBFB mRNA.
DQ893719 - Synthetic construct Homo sapiens clone IMAGE:100008179; FLH168669.01L; RZPDo839B1293D core-binding factor, beta subunit (CBFB) gene, encodes complete protein.
AB463544 - Synthetic construct DNA, clone: pF1KB7543, Homo sapiens CBFB gene for core-binding factor, beta subunit, without stop codon, in Flexi system.
KJ890837 - Synthetic construct Homo sapiens clone ccsbBroadEn_00231 CBFB gene, encodes complete protein.
BT006862 - Homo sapiens core-binding factor, beta subunit mRNA, complete cds.
DQ890558 - Synthetic construct clone IMAGE:100003188; FLH168673.01X; RZPDo839B1294D core-binding factor, beta subunit (CBFB) gene, encodes complete protein.
AF294326 - Homo sapiens core binding factor beta isoform PEBP2B mRNA, complete cds.
L20298 - Homo sapiens transcription factor (CBFB) mRNA, 3' end.
AK311724 - Homo sapiens cDNA, FLJ18766.
MH401094 - Homo sapiens nonfunctional CBFB/MYH11 fusion protein mRNA, partial sequence.
LF326319 - JP 2014500723-A/133822: Polycomb-Associated Non-Coding RNAs.
JC506674 - Sequence 42 from Patent EP2733220.
JC737786 - Sequence 42 from Patent WO2014075939.
JC506688 - Sequence 56 from Patent EP2733220.
JC737800 - Sequence 56 from Patent WO2014075939.
JC506661 - Sequence 29 from Patent EP2733220.
JC737773 - Sequence 29 from Patent WO2014075939.
JC506666 - Sequence 34 from Patent EP2733220.
JC737778 - Sequence 34 from Patent WO2014075939.
MA561896 - JP 2018138019-A/133822: Polycomb-Associated Non-Coding RNAs.
AK311084 - Homo sapiens cDNA, FLJ18126.
X87833 - Homo sapiens mRNA for CBF-MYH11 fusion protein.
JD257868 - Sequence 238892 from Patent EP1572962.
JD144990 - Sequence 126014 from Patent EP1572962.
JD314616 - Sequence 295640 from Patent EP1572962.
JD244381 - Sequence 225405 from Patent EP1572962.
JD091332 - Sequence 72356 from Patent EP1572962.
JD563128 - Sequence 544152 from Patent EP1572962.
JD019861 - Sequence 885 from Patent EP1572962.
JD033924 - Sequence 14948 from Patent EP1572962.
JD269379 - Sequence 250403 from Patent EP1572962.
JD284911 - Sequence 265935 from Patent EP1572962.
JD330784 - Sequence 311808 from Patent EP1572962.
JD441212 - Sequence 422236 from Patent EP1572962.
JD342287 - Sequence 323311 from Patent EP1572962.
JD435499 - Sequence 416523 from Patent EP1572962.
JD308228 - Sequence 289252 from Patent EP1572962.
JD551894 - Sequence 532918 from Patent EP1572962.
JD070031 - Sequence 51055 from Patent EP1572962.
JD397386 - Sequence 378410 from Patent EP1572962.
JD415496 - Sequence 396520 from Patent EP1572962.
JD021290 - Sequence 2314 from Patent EP1572962.
JD030840 - Sequence 11864 from Patent EP1572962.
JD162303 - Sequence 143327 from Patent EP1572962.
JD065695 - Sequence 46719 from Patent EP1572962.
JD378417 - Sequence 359441 from Patent EP1572962.
JD331984 - Sequence 313008 from Patent EP1572962.
JD377520 - Sequence 358544 from Patent EP1572962.
JD506517 - Sequence 487541 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q13951 (Reactome details) participates in the following event(s):

R-HSA-8865320 CBFB binds RUNX1
R-HSA-8865425 RUNX2 binds CBFB
R-HSA-8865454 CBFB binds RUNX3
R-HSA-8865482 KMT2A (MLL) binds RUNX1
R-HSA-8865547 RUNX1:CBFB binds FOXP3 gene
R-HSA-8877192 RUNX1 binds FOXP3
R-HSA-8877338 RUNX1 and NFATC2 bind the IL2 gene promoter
R-HSA-8877360 RUNX1 binds the IFNG promoter
R-HSA-8877385 RUNX1 binds intron 1 of IL2RA (CD25) gene
R-HSA-8877404 RUNX1 binds the promoter of the CTLA4 gene
R-HSA-8877485 RUNX1 binds to TNFRSF18 (GITR) gene promoter and intron 1
R-HSA-8878054 HIPK2 phosphorylates RUNX1
R-HSA-8878056 RUNX1:CBFB binds EP300
R-HSA-8931981 RUNX1 binds ESR1
R-HSA-8934688 RUNX1:CBFB binds the LIFR gene promoter
R-HSA-8934742 RUNX1 binds PRMT1
R-HSA-8935732 RUNX1 binds SIN3A,(SIN3B) co-repressor
R-HSA-8935960 RUNX1 binds the TJP1 (ZO-1) gene promoter
R-HSA-8935980 RUNX1 binds the OCLN gene promoter
R-HSA-8936000 RUNX1 binds the CLDN5 (Claudin-5) gene promoter
R-HSA-8937989 RUNX1 binds PRC1 complexes
R-HSA-8938022 RUNX1:CBFB binds the NR4A3 gene promoter
R-HSA-8938053 RUNX1:CBFB binds the SERPINB13 gene promoter
R-HSA-8938150 RUNX1:CBFB binds the PRKCQ gene promoter
R-HSA-8938176 RUNX1:CBFB binds the PF4 gene promoter
R-HSA-8938199 RUNX1:CBFB binds the MYL9 gene promoter
R-HSA-8938217 RUNX1 binds the SWI/SNF complex
R-HSA-8938231 RUNX1:CBFB binds CREBBP
R-HSA-8938328 RUNX1:CBFB binds the NFE2 gene promoter
R-HSA-8938389 RUNX1:CBFB binds the LGALS3 gene promoter
R-HSA-8938913 RUNX1 binds ELF1
R-HSA-8938930 RUNX1 binds ELF2
R-HSA-8938951 RUNX1 binds PAX5 (BSAP)
R-HSA-8939054 RUNX1 binds the PRKCB gene promoter
R-HSA-8939082 RUNX1 binds the CR1 gene promoter
R-HSA-8955748 RUNX1 binds the SOCS3 gene
R-HSA-8955822 RUNX1 binds the SOCS4 gene
R-HSA-8956568 RUNX1 binds the core TAL1 complex
R-HSA-8956639 RUNX1 binds YAP1
R-HSA-8877941 RUNX2 binds SMAD1 in the nucleus
R-HSA-8878257 RUNX2 binds the IHH gene promoter
R-HSA-8937864 RUNX2 binds tyrosine phosphorylated YAP1
R-HSA-8938371 RUNX2:CBFB binds the LGALS3 gene promoter
R-HSA-8939670 RUNX2:CBFB binds the ITGA5 gene promoter
R-HSA-8939833 RUNX2:CBFB binds the ITGBL1 gene promoter
R-HSA-8939852 RUNX2 and SP7 bind the UCMA gene promoter
R-HSA-8939963 Activated AKT phosphorylates RUNX2
R-HSA-9008412 CDK4 phosphorylates RUNX2
R-HSA-9008832 RUNX2 binds BAX gene promoter
R-HSA-9009208 Activated ERKs phosphorylate RUNX2
R-HSA-9009282 CDK1 phosphorylates RUNX2
R-HSA-9009451 RUNX2 binds SMURF1 gene
R-HSA-9008822 PPM1D dephosphorylates RUNX2
R-HSA-8949276 RUNX3:CBFB binds the RORC gene promoter
R-HSA-8949335 RUNX3:CBFB binds the ITGAL gene,(ITGA4 gene) promoter
R-HSA-8951910 RUNX3 binds the RUNX1 promoter
R-HSA-8951951 RUNX3 binds EP300
R-HSA-8934735 PRMT1 arginine-methylates RUNX1
R-HSA-8940001 RUNX2:CBFB binds the MMP13 gene promoter
R-NUL-8939977 Acitvated AKT1 phosphorylates Runx2
R-HSA-9008345 RUNX2-P1 binds RUNX2 gene promoter
R-HSA-9016526 RUNX2-P2 binds RUNX2 gene promoter
R-HSA-8865491 RUNX1:CBFB:KMT2A binds SPI1 (PU.1) gene
R-HSA-8877348 RUNX1, FOXP3 and NFATC2 bind the IL2 gene promoter
R-HSA-8877369 RUNX1 and FOXP3 bind the IFNG gene
R-HSA-8877391 FOXP3 in complex with RUNX1 binds intron 1 of the IL2RA (CD25) gene
R-HSA-8877414 FOXP3 in complex with RUNX1 binds the CTLA4 gene promoter
R-HSA-8877490 FOXP3 in complex with RUNX1 binds to the TNFRSF18 (GITR) gene intron 1
R-HSA-8877879 RUNX1 and FOXP3 bind the RSPO3 gene promoter
R-HSA-8878050 HIPK2 phosphorylates RUNX1 and EP300
R-HSA-8932021 RUNX1 and ESR1 bind the GPAM gene enhancer
R-HSA-8932037 RUNX1 and ESR1 bind the KCTD6 gene enhancer
R-HSA-8932084 RUNX1 and ESR1 bind the AXIN1 gene
R-HSA-8935730 RUNX1:CBFB, SIN3A(SIN3B), PRMT6 and HDAC1 bind the ITGA2B promoter
R-HSA-8936599 RUNX1:CBFB, SIN3A(SIN3B), PRMT6 and HDAC1 bind the GP1BA promoter
R-HSA-8936989 RUNX1:CBFB, SIN3A(SIN3B), PRMT6 and HDAC1 bind the THBS1 gene promoter
R-HSA-8937118 RUNX1:CBFB, SIN3A(SIN3B), PRMT6 and HDAC1 bind the MIR27A gene promoter
R-HSA-8938228 RUNX1:CBFB:CREBBP binds the CSF2 (GM-CSF) gene promoter
R-HSA-8938938 RUNX1 and ELF1 bind the IL3 gene promoter
R-HSA-8956649 The complex of RUNX1 and YAP1 binds the ITCH gene promoter
R-HSA-8935740 RUNX1 and GATA1 bind the promoter of the ITGA2B gene
R-HSA-8936616 RUNX1 and GATA1 bind the promoter of the GP1BA gene
R-HSA-8936979 RUNX1 and GATA1 bind the promoter of the THBS1 gene
R-HSA-8937037 RUNX1 and GATA1 bind the promoter of the MIR27A gene
R-HSA-8938853 CDK6 binds RUNX1
R-HSA-8952081 RUNX proteins bind the p14-ARF promoter at the CDKN2A locus
R-HSA-8878013 RUNX2 and SMAD1 complex binds the SMAD6 gene promoter
R-HSA-8937869 RUNX2:CBFB:p-Y-YAP1 binds the BGLAP gene promoter
R-HSA-9008877 RUNX2:CBFB binds BGLAP gene promoter
R-HSA-9008433 RUNX2 binds CDKN1A gene promoter
R-HSA-8951966 EP300 acetylates RUNX3
R-HSA-8952069 HDAC4 deacetylates RUNX3
R-HSA-8951977 Acetylated RUNX3 binds to BRD2
R-HSA-8952062 CCND1 recruits HDAC4 to RUNX3
R-HSA-8952058 CCND1 binds RUNX3 and displaces EP300
R-HSA-8865498 KMT2A trimethylates nucleosomes at the SPI1 gene locus producing H3K4Me3 mark
R-HSA-8936584 PRMT6 arginine methylates H3K4me2-Nucleosome at the ITGA2B gene promoter
R-HSA-8936608 PRMT6 arginine methylates H3K4me2-Nucleosome at the GP1BA gene promoter
R-HSA-8937022 PRMT6 arginine methylates H3K4me2-Nucleosome at the THBS1 gene promoter
R-HSA-8937113 PRMT6 arginine methylates H3K4me2-Nucleosome at the MIR27A gene promoter
R-HSA-8938965 RUNX1 and ELF1, ELF2 or PAX5 bind the BLK gene promoter
R-HSA-8956586 RUNX1-containing TAL1 complex binds the MYB gene enhancer
R-HSA-8936481 Core MLL complex methylates H3K4Me2-Nucleosome at the ITGA2B gene promoter
R-HSA-8936621 Core MLL complex methylates H3K4Me2-Nucleosome at the GP1BA gene promoter
R-HSA-8937016 Core MLL complex methylates H3K4Me2-Nucleosome at the THBS1 gene promoter
R-HSA-8937050 Core MLL complex methylates H3K4Me2-Nucleosome at the MIR27A gene promoter
R-HSA-8934593 Regulation of RUNX1 Expression and Activity
R-HSA-8878166 Transcriptional regulation by RUNX2
R-HSA-8941858 Regulation of RUNX3 expression and activity
R-HSA-8939236 RUNX1 regulates transcription of genes involved in differentiation of HSCs
R-HSA-8877330 RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
R-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
R-HSA-8931987 RUNX1 regulates estrogen receptor mediated transcription
R-HSA-9018519 Estrogen-dependent gene expression
R-HSA-8939247 RUNX1 regulates transcription of genes involved in interleukin signaling
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
R-HSA-8935964 RUNX1 regulates expression of components of tight junctions
R-HSA-8939242 RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
R-HSA-8939246 RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
R-HSA-8939245 RUNX1 regulates transcription of genes involved in BCR signaling
R-HSA-8941326 RUNX2 regulates bone development
R-HSA-8941284 RUNX2 regulates chondrocyte maturation
R-HSA-8940973 RUNX2 regulates osteoblast differentiation
R-HSA-8941333 RUNX2 regulates genes involved in differentiation of myeloid cells
R-HSA-8941332 RUNX2 regulates genes involved in cell migration
R-HSA-8939902 Regulation of RUNX2 expression and activity
R-HSA-8949275 RUNX3 Regulates Immune Response and Cell Migration
R-HSA-8951911 RUNX3 regulates RUNX1-mediated transcription
R-HSA-8951936 RUNX3 regulates p14-ARF
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-212436 Generic Transcription Pathway
R-HSA-8878159 Transcriptional regulation by RUNX3
R-HSA-8939256 RUNX1 regulates transcription of genes involved in WNT signaling
R-HSA-8939211 ESR-mediated signaling
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-9006931 Signaling by Nuclear Receptors
R-HSA-74160 Gene expression (Transcription)
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: NM_022845, NP_074036, Q13951-2
UCSC ID: uc002erb.3
RefSeq Accession: NM_022845
Protein: Q13951-2, splice isoform of Q13951 CCDS: CCDS45508.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_022845.2
exon count: 6CDS single in 3' UTR: no RNA size: 3150
ORF size: 564CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1328.00frame shift in genome: no % Coverage: 98.48
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.