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Cbfb Gene Detail
Summary
  • Symbol
    Cbfb
  • Name
    core binding factor beta
  • Synonyms
    PEA2, Pebp2, PEBP2b, Pebpb2
  • Feature Type
    protein coding gene
  • IDs
    MGI:99851
    NCBI Gene: 12400
  • Gene Overview
    MyGene.info: CBFB
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr8:105170674-105217989 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      47316 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 53.04 cM
  • Mapping Data
    8 experiments
Homology
more
  • Human Ortholog
    CBFB, core-binding factor subunit beta
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CBFB, core-binding factor subunit beta
    Orthology source: HomoloGene, HGNC
  • Synonyms
    PEBP2B
  • Links
    NCBI Gene ID: 865
    neXtProt AC: NX_Q13951
    UniProt: Q13951

  • Chr Location
    16q22.1; chr16:67029147-67101058 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    120 phenotypes from 17 alleles in 15 genetic backgrounds
    14 phenotypes from multigenic genotypes
    67 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous null mutant embryos exhibit massive CNS hemorrhaging, impaired definitive hematopoiesis, and death around E12.5. Homozygotes for a hypoplastic mutation are born at normal ratios but die soon after birth. Delayed skeletal development leaves bones poorly ossified and hypoplastic at birth.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000049550 VEGA Gene Model | MGI Sequence Detail 47316 C57BL/6J ±  kb
    transcript OTTMUST00000126293 VEGA | MGI Sequence Detail 2883 Not Applicable  
    polypeptide OTTMUSP00000068322 VEGA | MGI Sequence Detail 187 Not Applicable  
    For the selected sequence
    Polymorphisms
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    • SNPs within 2kb
      139 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 146
      Genomic 3
      cDNA 139
      Primer pair 4

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-16642, MGD-MRK-19426, MGI:2142649
    References
    more
    • Summaries
      All 119
      Developmental Gene Expression 18
      Gene Ontology 9
      Phenotypes 67
    • Earliest
      J:3972 Bae SC, et al., Isolation of PEBP2 alpha B cDNA representing the mouse homolog of human acute myeloid leukemia gene, AML1. Oncogene. 1993 Mar;8(3):809-14
    • Latest
      J:261399 Lee-Thacker S, et al., Core Binding Factor beta Expression in Ovarian Granulosa Cells Is Essential for Female Fertility. Endocrinology. 2018 May 1;159(5):2094-2109

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory