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    Cbfb core binding factor beta [ Mus musculus (house mouse) ]

    Gene ID: 12400, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Cbfbprovided by MGI
    Official Full Name
    core binding factor betaprovided by MGI
    Primary source
    MGI:MGI:99851
    See related
    Ensembl:ENSMUSG00000031885 AllianceGenome:MGI:99851
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    PEA2; Pebp2; PEBP2b; Pebpb2
    Summary
    Contributes to sequence-specific DNA binding activity. Involved in negative regulation of CD4-positive, alpha-beta T cell differentiation; negative regulation of transcription by RNA polymerase II; and positive regulation of CD8-positive, alpha-beta T cell differentiation. Acts upstream of or within several processes, including hemopoiesis; osteoblast differentiation; and positive regulation of transcription by RNA polymerase II. Located in nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in acute myelomonocytic leukemia. Orthologous to human CBFB (core-binding factor subunit beta). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 26.2), CNS E11.5 (RPKM 16.7) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cbfb in Genome Data Viewer
    Location:
    8 D3; 8 53.04 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (105897306..105944621)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (105170674..105217989)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene carboxylesterase 4A Neighboring gene predicted gene, 51414 Neighboring gene STARR-positive B cell enhancer ABC_E1106 Neighboring gene predicted gene, 22063 Neighboring gene expressed sequence AI225912 Neighboring gene STARR-seq mESC enhancer starr_22523 Neighboring gene STARR-seq mESC enhancer starr_22525 Neighboring gene STARR-seq mESC enhancer starr_22526 Neighboring gene phagosome assembly factor 1 Neighboring gene STARR-positive B cell enhancer mm9_chr8:107778026-107778327 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 Neighboring gene TNFRSF1A-associated via death domain

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Structure and backbone dynamics of Apo-CBFbeta in solution. Wolf-Watz M, et al. Biochemistry, 2001 Sep 25. PMID 11560490
    2. Core binding factors are necessary for natural killer cell development and cooperate with Notch signaling during T-cell specification. Guo Y, et al. Blood, 2008 Aug 1. PMID 18390836, Free PMC Article
    3. CBFB-MYH11 hinders early T-cell development and induces massive cell death in the thymus. Zhao L, et al. Blood, 2007 Apr 15. PMID 17185462, Free PMC Article
    4. Cbfbeta reduces Cbfbeta-SMMHC-associated acute myeloid leukemia in mice. Heilman SA, et al. Cancer Res, 2006 Dec 1. PMID 17145866
    5. T-lymphoid, megakaryocyte, and granulocyte development are sensitive to decreases in CBFbeta dosage. Talebian L, et al. Blood, 2007 Jan 1. PMID 16940420, Free PMC Article

    See all (159) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deficiency of Cbfbeta in articular cartilage leads to osteoarthritis-like phenotype through Hippo/Yap, TGFbeta, and Wnt/beta-catenin signaling pathways.
      Title: Deficiency of Cbfβ in articular cartilage leads to osteoarthritis-like phenotype through Hippo/Yap, TGFβ, and Wnt/β-catenin signaling pathways.
    2. Different Requirements of CBFB and RUNX2 in Skeletal Development among Calvaria, Limbs, Vertebrae and Ribs.
      Title: Different Requirements of CBFB and RUNX2 in Skeletal Development among Calvaria, Limbs, Vertebrae and Ribs.
    3. The p53/miR-145a Axis Promotes Cellular Senescence and Inhibits Osteogenic Differentiation by Targeting Cbfb in Mesenchymal Stem Cells.
      Title: The p53/miR-145a Axis Promotes Cellular Senescence and Inhibits Osteogenic Differentiation by Targeting Cbfb in Mesenchymal Stem Cells.
    4. RUNX1 and CBFbeta-SMMHC transactivate target genes together in abnormal myeloid progenitors for leukemia development.
      Title: RUNX1 and CBFβ-SMMHC transactivate target genes together in abnormal myeloid progenitors for leukemia development.
    5. Core Binding Factors are essential for ovulation, luteinization, and female fertility in mice.
      Title: Core Binding Factors are essential for ovulation, luteinization, and female fertility in mice.
    6. Gata2 deficiency delays leukemogenesis while contributing to aggressive leukemia phenotype in Cbfb-MYH11 knockin mice.
      Title: Gata2 deficiency delays leukemogenesis while contributing to aggressive leukemia phenotype in Cbfb-MYH11 knockin mice.
    7. A novel role for HDAC1 as a cofactor for the leukemogenic fusion protein CBFbeta-SMMHC.
      Title: HDAC1 Is a Required Cofactor of CBFβ-SMMHC and a Potential Therapeutic Target in Inversion 16 Acute Myeloid Leukemia.
    8. Cbfb is a prerequisite for anterior palatogenesis.
      Title: Anterior cleft palate due to Cbfb deficiency and its rescue by folic acid.
    9. These data establish an essential role for CBFbeta in group 2 innate lymphoid cells activation.
      Title: Cutting Edge: Core Binding Factor β Is Required for Group 2 Innate Lymphoid Cell Activation.
    10. Cbfbeta2, encoded by an RNA splice variant of the Cbfb gene, is essential for extrathymic differentiation of T cell progenitors. Furthermore, Cbfbeta2 endows extrathymic progenitors with thymus-homing capacity by inducing expression of the principal thymus-homing receptor, Ccr9.
      Title: Cbfβ2 controls differentiation of and confers homing capacity to prethymic progenitors.
    Submit: New GeneRIF Correction See all GeneRIFs (62)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (16)  1 citation
    • Transgenic (1) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    contributes_to sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription coactivator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell maturation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within definitive hemopoiesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within lymphocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within myeloid cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of CD4-positive, alpha-beta T cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within ossification IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of CD8-positive, alpha-beta T cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein polyubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein polyubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of core-binding factor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of core-binding factor complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    core-binding factor subunit beta
    Names
    CBF-beta
    PEA2-beta
    PEBP2-beta
    SL3-3 enhancer factor 1 subunit beta
    SL3/AKV core-binding factor beta subunit
    polyomavirus enhancer-binding protein 2 beta subunit

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001161456.1 → NP_001154928.1  core-binding factor subunit beta isoform 2

      See identical proteins and their annotated locations for NP_001154928.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC164311, BF661733, D14572
      Consensus CDS
      CCDS52656.1
      UniProtKB/Swiss-Prot
      Q08024
      Related
      ENSMUSP00000105021.2, ENSMUST00000109394.3
      Conserved Domains (1) summary
      pfam02312
      Location:1 → 128
      CBF_beta; Core binding factor beta subunit

    2. NM_001161457.1 → NP_001154929.1  core-binding factor subunit beta isoform 3

      See identical proteins and their annotated locations for NP_001154929.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AC164311, BF661733, D14570
      Consensus CDS
      CCDS52655.1
      UniProtKB/Swiss-Prot
      Q08024
      Related
      ENSMUSP00000105022.2, ENSMUST00000109395.8
      Conserved Domains (1) summary
      pfam02312
      Location:1 → 133
      CBF_beta; Core binding factor beta subunit

    3. NM_001161458.1 → NP_001154930.1  core-binding factor subunit beta isoform 4

      See identical proteins and their annotated locations for NP_001154930.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 3# coding region which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC164311, BF661733, D14571
      Consensus CDS
      CCDS52654.1
      UniProtKB/Swiss-Prot
      Q08024
      Related
      ENSMUSP00000105019.2, ENSMUST00000109392.9
      Conserved Domains (1) summary
      pfam02312
      Location:1 → 167
      CBF_beta; Core binding factor beta subunit

    4. NM_001416445.1 → NP_001403374.1  core-binding factor subunit beta isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC124713, AC164311

    5. NM_001416446.1 → NP_001403375.1  core-binding factor subunit beta isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC124713, AC164311

    6. NM_022309.4 → NP_071704.3  core-binding factor subunit beta isoform 1

      See identical proteins and their annotated locations for NP_071704.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC164311, BF661733, D14572
      Consensus CDS
      CCDS22592.1
      UniProtKB/Swiss-Prot
      Q08024, Q08025, Q62050, Q62051, Q8C282, Q8CGD5
      Related
      ENSMUSP00000059382.3, ENSMUST00000052209.9
      Conserved Domains (1) summary
      pfam02312
      Location:1 → 167
      CBF_beta; Core binding factor beta subunit

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      105897306..105944621
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q08024.1 GenPept UniProtKB/Swiss-Prot:Q08024

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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