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

Gene ID: 12400, updated on 22-Apr-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 myeloid leukemia. Orthologous to human CBFB (core-binding factor subunit beta). [provided by Alliance of Genome Resources, Apr 2022]
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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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. Cbfβ governs osteoblast-adipocyte lineage commitment through enhancing β-catenin signaling and suppressing adipogenesis gene expression. Wu M, et al. Proc Natl Acad Sci U S A, 2017 Sep 19. PMID 28864530, Free PMC Article
  2. The C-terminal multimerization domain is essential for leukemia development by CBFβ-SMMHC in a mouse knockin model. Zhao L, et al. Leukemia, 2017 Dec. PMID 28819283, Free PMC Article
  3. Core Binding Factor-β Knockdown Alters Ovarian Gene Expression and Function in the Mouse. Wilson K, et al. Mol Endocrinol, 2016 Jul. PMID 27176614, Free PMC Article
  4. Cbfb deficiency results in differentiation blocks and stem/progenitor cell expansion in hematopoiesis. Wang CQ, et al. Leukemia, 2015 Mar. PMID 25371180
  5. Chondrocyte-specific knockout of Cbfβ reveals the indispensable function of Cbfβ in chondrocyte maturation, growth plate development and trabecular bone formation in mice. Wu M, et al. Int J Biol Sci, 2014. PMID 25170300, Free PMC Article

See all (156) 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)
  • Transgenic (1) 
  • Targeted (16)  1 citation
  • Endonuclease-mediated (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
  
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 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

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