CBFB (subunit b of core binding factor)
1999-06-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
16q22.1
IMAGE
LEGEND
CBFB (16q22) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
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
ALIAS
PEBP2B
FUSION GENES
DNA/RNA
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
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 ID | Last Year | Title | Authors |
|---|---|---|---|
| 8929537 | 1996 | Failure of embryonic hematopoiesis and lethal hemorrhages in mouse embryos heterozygous for a knocked-in leukemia gene CBFB-MYH11. | Castilla LH et al |
| 8338941 | 1993 | Identification of yeast artificial chromosomes containing the inversion 16 p-arm breakpoint associated with acute myelomonocytic leukemia. | Liu P et al |
| 8386878 | 1993 | Molecular cloning and characterization of PEBP2 beta, the heterodimeric partner of a novel Drosophila runt-related DNA binding protein PEBP2 alpha. | Ogawa E et al |
| 8341710 | 1993 | PEBP2/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 |
| 8929538 | 1996 | The CBFbeta subunit is essential for CBFalpha2 (AML1) function in vivo. | Wang Q et al |
| 8497254 | 1993 | Cloning and characterization of subunits of the T-cell receptor and murine leukemia virus enhancer core-binding factor. | Wang S et al |
| 8637227 | 1996 | Acute 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
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36241386 | 2023 | Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia. | 0 |
| 36799863 | 2023 | Dysregulation of Mitochondrial Translation Caused by CBFB Deficiency Cooperates with Mutant PIK3CA and Is a Vulnerability in Breast Cancer. | 2 |
| 36831308 | 2023 | The RUNX/CBFβ Complex in Breast Cancer: A Conundrum of Context. | 0 |
| 36241386 | 2023 | Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia. | 0 |
| 36799863 | 2023 | Dysregulation of Mitochondrial Translation Caused by CBFB Deficiency Cooperates with Mutant PIK3CA and Is a Vulnerability in Breast Cancer. | 2 |
| 36831308 | 2023 | The RUNX/CBFβ Complex in Breast Cancer: A Conundrum of Context. | 0 |
| 34739701 | 2022 | Non-age-related neoplastic loss of sex chromosome correlated with prolonged survival in real-world CBF-AML patients. | 1 |
| 35128634 | 2022 | TET2 deficiency cooperates with CBFB-MYH11 to induce acute myeloid leukaemia and represents an early leukaemogenic event. | 2 |
| 35184217 | 2022 | 3'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 |
| 35903297 | 2022 | Cancer-Associated Exosomal CBFB Facilitates the Aggressive Phenotype, Evasion of Oxidative Stress, and Preferential Predisposition to Bone Prometastatic Factor of Breast Cancer Progression. | 2 |
| 36039018 | 2022 | Mutual exclusivity between the fusion gene CBFB::MYH11 and somatic mitochondrial mutations in acute myeloid leukaemia. | 0 |
| 36476886 | 2022 | [Molecular Genetic Characteristics of Acute Myeloid Leukemia Patients with CBFβ-MYH11 Positive]. | 0 |
| 34739701 | 2022 | Non-age-related neoplastic loss of sex chromosome correlated with prolonged survival in real-world CBF-AML patients. | 1 |
| 35128634 | 2022 | TET2 deficiency cooperates with CBFB-MYH11 to induce acute myeloid leukaemia and represents an early leukaemogenic event. | 2 |
| 35184217 | 2022 | 3'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)
