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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
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:105897306-105944621 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 53.04 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1151 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99851
 protein coding gene Chr8:105897306-105944621 (+)
129S1/SvImJ MGP_129S1SvImJ_G0034028
 protein coding gene Chr8:107425752-107477003 (+)
A/J MGP_AJ_G0034009
 protein coding gene Chr8:103148119-103196223 (+)
AKR/J MGP_AKRJ_G0033935
 protein coding gene Chr8:106124738-106175572 (+)
BALB/cJ MGP_BALBcJ_G0034002
 protein coding gene Chr8:103320612-103368558 (+)
C3H/HeJ MGP_C3HHeJ_G0033714
 protein coding gene Chr8:106870333-106924472 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034522
 protein coding gene Chr8:111364105-111420636 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031464
 protein coding gene Chr8:96303855-96346167 (+)
CAST/EiJ MGP_CASTEiJ_G0033040
 protein coding gene Chr8:106370186-106418062 (+)
CBA/J MGP_CBAJ_G0033687
 protein coding gene Chr8:114963498-115029804 (+)
DBA/2J MGP_DBA2J_G0033842
 protein coding gene Chr8:102493641-102540595 (+)
FVB/NJ MGP_FVBNJ_G0033788
 protein coding gene Chr8:101416718-101464034 (+)
LP/J MGP_LPJ_G0033933
 protein coding gene Chr8:107641334-107692294 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033831
 protein coding gene Chr8:118186829-118237853 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034540
 protein coding gene Chr8:106100775-106148696 (+)
PWK/PhJ MGP_PWKPhJ_G0032741
 protein coding gene Chr8:101877852-101925678 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032582
 protein coding gene Chr8:104775414-104826671 (+)
WSB/EiJ MGP_WSBEiJ_G0033156
 protein coding gene Chr8:106751756-106803406 (+)



Homology
more
  • Human Ortholog
    CBFB, core-binding factor subunit beta
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CBFB, core-binding factor subunit beta
  • Synonyms
    CLCD2, PEBP2B
  • Links
    NCBI Gene ID: 865
    neXtProt AC: NX_Q13951
    UniProt: Q13951

  • Chr Location
    16q22.1; chr16:67028984-67101058 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human CBFB associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    113 phenotypes from 14 alleles in 15 genetic backgrounds
    31 phenotypes from multigenic genotypes
    101 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
less
  • All GO Annotations
    24
  • GO References
    11
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    876
  • Tissues
    138
  • cDNA Data
    141
  • Literature Summary
    21
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12400 NCBI Gene Model | MGI Sequence Detail 47316 C57BL/6J ±  kb
    transcript NM_001161458 RefSeq | MGI Sequence Detail 2924 ZRU/MplStud  
    polypeptide Q08024 UniProt | EBI | MGI Sequence Detail 187 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 152
      Genomic 3
      cDNA 141
      Primer pair 5
      Other 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-16642, MGD-MRK-19426, MGI:2142649
    References
    more
    • Summaries
      All 158
      Developmental Gene Expression 21
      Gene Ontology 11
      Phenotypes 101
    • 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:352335 Zhang Y, et al., Deficiency of Cbfbeta in articular cartilage leads to osteoarthritis-like phenotype through Hippo/Yap, TGFbeta, and Wnt/beta-catenin signaling pathways. Int J Biol Sci. 2024;20(6):1965-1977
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    11/12/2024
    MGI 6.24     		The Jackson Laboratory