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

Gene ID: 12400, updated on 29-Nov-2022

Summary

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
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Genomic context

See Cbfb in Genome Data Viewer
Location:
8 D3; 8 53.04 cM
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (105897230..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 predicted gene, 22063 Neighboring gene expressed sequence AI225912 Neighboring gene phagosome assembly factor 1 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 Neighboring gene TNFRSF1A-associated via death domain

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
Component Evidence Code Pubs
part_of core-binding factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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_001161456.1NP_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
    UniProtKB/TrEMBL
    A0A8C6MVJ3
    Related
    ENSMUSP00000105021.2, ENSMUST00000109394.3
    Conserved Domains (1) summary
    pfam02312
    Location:1128
    CBF_beta; Core binding factor beta subunit
  2. NM_001161457.1NP_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
    UniProtKB/TrEMBL
    A0A8C6MVI9
    Related
    ENSMUSP00000105022.2, ENSMUST00000109395.8
    Conserved Domains (1) summary
    pfam02312
    Location:1133
    CBF_beta; Core binding factor beta subunit
  3. NM_001161458.1NP_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
    UniProtKB/TrEMBL
    A0A6P5Q302, A0A8C6H2M7
    Related
    ENSMUSP00000105019.2, ENSMUST00000109392.9
    Conserved Domains (1) summary
    pfam02312
    Location:1167
    CBF_beta; Core binding factor beta subunit
  4. NM_022309.4NP_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, Q8CGD5
    UniProtKB/TrEMBL
    A0A6P5Q935
    Related
    ENSMUSP00000059382.3, ENSMUST00000052209.9
    Conserved Domains (1) summary
    pfam02312
    Location:1167
    CBF_beta; Core binding factor beta subunit

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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
    105897230..105944621
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036153738.1XP_036009631.1  core-binding factor subunit beta isoform X2

    Conserved Domains (1) summary
    pfam02312
    Location:1128
    CBF_beta; Core binding factor beta subunit
  2. XM_036153737.1XP_036009630.1  core-binding factor subunit beta isoform X1

    Conserved Domains (1) summary
    pfam02312
    Location:1128
    CBF_beta; Core binding factor beta subunit