CBFB (subunit b of core binding factor)

1999-06-01   Jean-Loup Huret  

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
CBFB
LOCATION
16q22.1
IMAGE
Atlas Image
LEGEND
CBFB (16q22) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
IMAGE
Atlas Image
LEGEND
CBFB (subunit b of core binding factor) Hybridization with LSI CBFB dual-color break part probe (Abbott Molecular, US), showing CBFB on 16q22.11 (red-green or a fused yellow signal) - Courtesy Adriana Zamecnikova.
LOCUSID
865
ALIAS
PEBP2B
FUSION GENES
Show Gene Fusions

DNA/RNA

Atlas Image

Description

6 exons; 50 kb

Transcription

alternate splicing at cDNA positions 495 (in exon 5) and 526

Proteins

Description

2 alternative forms of 182 and 187 amino acids with the first 165 N-term identical amino acids and different C-term; 22 kDa

Expression

wide

Localisation

cytoplasmic when not dimerized

Function

CBF is a heterodimer comprising the subunit b (CBFb) and the subunit CBFa (3 CBFa genes are known, of which is CBFa2, also called AML1, involved in the well known t(8;21), t(12;21), and in other leukaemias); CBF binds to a core motif of the DNA (herein the name); CBFb by itself does not contain any known DNA binding motif or any transcriptional activation domain; CBFa binds to DNA; CBFb increases CBFas affinity to DNA by 5 to 10 fold; CBF is a transcription factor which regulates the expression of myeloid and T-cell specific genes such as: GM-CSF, M-CSFR, IL3, T- Cell receptors TCRA-D, TCRB and TCRG; CBF cooperate with various tissue specific factors to activate these lineage-restricted transcriptions; homozygous knock down of either CBFb or CBFa results in embryonic lethality, showing that they are essential for fetal liver hematopoiesis

Homology

highly conserved through the species

Implicated in

Entity name
inv(16)(p13q22), t(16;16)(p13;q22), and del(16)(q22) in acute non lymphoblastic leukaemia (AML) or myelodysplastic syndromes (MDS) --> CBFB - MYH11
Disease
nearly pathognomonic of M4eo-AML: with eosinophilia; frequent CNS involvement
Prognosis
high CR rate; better prognosis than most other AML
Cytogenetics
the 3 chromosome anomalies are variants of each other
Hybrid gene
5 CBFb - 3 MYH11
Fusion protein
the N-trem and most of CBFb is fused to the MYH11 C-term with its multimerization domain

Article Bibliography

Pubmed IDLast YearTitleAuthors
89295371996Failure of embryonic hematopoiesis and lethal hemorrhages in mouse embryos heterozygous for a knocked-in leukemia gene CBFB-MYH11.Castilla LH et al
83389411993Identification of yeast artificial chromosomes containing the inversion 16 p-arm breakpoint associated with acute myelomonocytic leukemia.Liu P et al
83868781993Molecular cloning and characterization of PEBP2 beta, the heterodimeric partner of a novel Drosophila runt-related DNA binding protein PEBP2 alpha.Ogawa E et al
83417101993PEBP2/PEA2 represents a family of transcription factors homologous to the products of the Drosophila runt gene and the human AML1 gene.Ogawa E et al
89295381996The CBFbeta subunit is essential for CBFalpha2 (AML1) function in vivo.Wang Q et al
84972541993Cloning and characterization of subunits of the T-cell receptor and murine leukemia virus enhancer core-binding factor.Wang S et al
86372271996Acute myelogenous leukemia: a disorder of gene splicing?van der Reijden BA et al

Other Information

Locus ID:

NCBI: 865
MIM: 121360
HGNC: 1539
Ensembl: ENSG00000067955

Variants:

dbSNP: 865
ClinVar: 865
TCGA: ENSG00000067955
COSMIC: CBFB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000067955ENST00000290858Q13951
ENSG00000067955ENST00000290858A0A024R6X2
ENSG00000067955ENST00000412916Q13951
ENSG00000067955ENST00000561924J3KS23
ENSG00000067955ENST00000563939J3KRT0
ENSG00000067955ENST00000564034H3BSC0
ENSG00000067955ENST00000565389J3KTD8
ENSG00000067955ENST00000650873A0A494C0A9

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
362413862023Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.0
367998632023Dysregulation of Mitochondrial Translation Caused by CBFB Deficiency Cooperates with Mutant PIK3CA and Is a Vulnerability in Breast Cancer.2
368313082023The RUNX/CBFβ Complex in Breast Cancer: A Conundrum of Context.0
362413862023Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.0
367998632023Dysregulation of Mitochondrial Translation Caused by CBFB Deficiency Cooperates with Mutant PIK3CA and Is a Vulnerability in Breast Cancer.2
368313082023The RUNX/CBFβ Complex in Breast Cancer: A Conundrum of Context.0
347397012022Non-age-related neoplastic loss of sex chromosome correlated with prolonged survival in real-world CBF-AML patients.1
351286342022TET2 deficiency cooperates with CBFB-MYH11 to induce acute myeloid leukaemia and represents an early leukaemogenic event.2
3518421720223'CBFB deletion in CBFB-rearranged acute myeloid leukemia retains morphological features associated with inv(16), but patients have higher risk of relapse and may require stem cell transplant.1
359032972022Cancer-Associated Exosomal CBFB Facilitates the Aggressive Phenotype, Evasion of Oxidative Stress, and Preferential Predisposition to Bone Prometastatic Factor of Breast Cancer Progression.2
360390182022Mutual exclusivity between the fusion gene CBFB::MYH11 and somatic mitochondrial mutations in acute myeloid leukaemia.0
364768862022[Molecular Genetic Characteristics of Acute Myeloid Leukemia Patients with CBFβ-MYH11 Positive].0
347397012022Non-age-related neoplastic loss of sex chromosome correlated with prolonged survival in real-world CBF-AML patients.1
351286342022TET2 deficiency cooperates with CBFB-MYH11 to induce acute myeloid leukaemia and represents an early leukaemogenic event.2
3518421720223'CBFB deletion in CBFB-rearranged acute myeloid leukemia retains morphological features associated with inv(16), but patients have higher risk of relapse and may require stem cell transplant.1

Citation

Jean-Loup Huret

CBFB (subunit b of core binding factor)

Atlas Genet Cytogenet Oncol Haematol. 1999-06-01

Online version: http://atlasgeneticsoncology.org/gene/45/cbfb-(subunit-b-of-core-binding-factor)