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Genetics Home Reference: your guide to understanding genetic conditions
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CBFB

Reviewed November 2013

What is the official name of the CBFB gene?

The official name of this gene is “core-binding factor, beta subunit.”

CBFB is the gene's official symbol. The CBFB gene is also known by other names, listed below.

What is the normal function of the CBFB gene?

The CBFB gene provides instructions for making a protein called core binding factor beta (CBFβ), which is one piece of a protein complex known as core binding factor (CBF). CBFβ attaches (binds) to one of three related RUNX proteins (RUNX1, RUNX2, or RUNX3) to form different versions of CBF. These protein complexes bind to specific regions of DNA and help turn on (activate) certain genes.

The presence of CBFβ helps the complex bind to DNA and protects the RUNX protein from being broken down. The function of CBF depends on which RUNX protein it includes. Once bound to DNA, the RUNX1 protein controls the activity of genes involved in the development of blood cells (hematopoiesis). The RUNX2 protein regulates genes important for bone cell development and formation of the skeleton. The RUNX3 protein primarily affects genes involved in the development of nerve cells.

How are changes in the CBFB gene related to health conditions?

core binding factor acute myeloid leukemia - increased risk from variations of the CBFB gene

Rearrangements of genetic material affecting the CBFB gene are involved in a form of blood cancer known as acute myeloid leukemia (AML). Because the genetic changes affect CBF, the condition is classified as core binding factor AML (CBF-AML). The most common of these rearrangements is an inversion of a region of chromosome 16 (written as inv(16)). An inversion involves breakage of the chromosome in two places; the resulting piece of DNA is reversed and reinserted into the chromosome. Less commonly, a rearrangement known as a translocation occurs between the two copies of chromosome 16 (written as t(16;16)). In this translocation, pieces of DNA from each copy of the chromosome break off and are interchanged. Both types of genetic rearrangement lead to the fusion of parts of two genes on chromosome 16, CBFB and MYH11. These rearrangements are associated with 5 to 8 percent of cases of AML in adults.

When these rearrangements occur in early blood cells, the function of the RUNX1 protein is particularly affected. The protein produced from the fusion gene, called CBFβ-MYH11, can still bind to RUNX1 to form CBF. However, the function of CBF is impaired. The presence of CBFβ-MYH11 may block binding of CBF to DNA, preventing RUNX1 from controlling gene activity. Alternatively, the MYH11 portion of the fusion protein may interact with other proteins that prevent RUNX1 from controlling gene activity. This change in gene activity blocks the maturation (differentiation) of blood cells and leads to the production of abnormal, immature white blood cells called myeloid blasts. While inv(16) and t(16;16) are important for leukemia development, one or more additional genetic changes are typically needed for the myeloid blasts to develop into cancerous leukemia cells.

Where is the CBFB gene located?

Cytogenetic Location: 16q22.1

Molecular Location on chromosome 16: base pairs 67,029,146 to 67,101,057

The CBFB gene is located on the long (q) arm of chromosome 16 at position 22.1.

The CBFB gene is located on the long (q) arm of chromosome 16 at position 22.1.

More precisely, the CBFB gene is located from base pair 67,029,146 to base pair 67,101,057 on chromosome 16.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about CBFB?

You and your healthcare professional may find the following resources about CBFB helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CBFB gene or gene products?

  • CBF-beta
  • core-binding factor subunit beta
  • PEA2-beta
  • PEBB_HUMAN
  • PEBP2B
  • PEBP2-beta
  • polyomavirus enhancer binding protein 2, beta subunit
  • polyomavirus enhancer-binding protein 2 beta subunit
  • SL3-3 enhancer factor 1 beta subunit
  • SL3-3 enhancer factor 1 subunit beta
  • SL3/AKV core-binding factor beta subunit

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding CBFB?

acute ; acute myeloid leukemia ; AML ; cancer ; cell ; chromosome ; differentiation ; DNA ; enhancer ; fusion gene ; gene ; inversion ; leukemia ; myeloid ; protein ; rearrangement ; subunit ; translocation ; white blood cells

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • OMIM: CORE-BINDING FACTOR, BETA SUBUNIT (http://omim.org/entry/121360)
  • Eghtedar A, Borthakur G, Ravandi F, Jabbour E, Cortes J, Pierce S, Kantarjian H, Garcia-Manero G. Characteristics of translocation (16;16)(p13;q22) acute myeloid leukemia. Am J Hematol. 2012 Mar;87(3):317-8. doi: 10.1002/ajh.22258. Epub 2012 Jan 7. (http://www.ncbi.nlm.nih.gov/pubmed/22228403?dopt=Abstract)
  • Goyama S, Mulloy JC. Molecular pathogenesis of core binding factor leukemia: current knowledge and future prospects. Int J Hematol. 2011 Aug;94(2):126-33. doi: 10.1007/s12185-011-0858-z. Epub 2011 May 3. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21537931?dopt=Abstract)
  • Huang G, Shigesada K, Ito K, Wee HJ, Yokomizo T, Ito Y. Dimerization with PEBP2beta protects RUNX1/AML1 from ubiquitin-proteasome-mediated degradation. EMBO J. 2001 Feb 15;20(4):723-33. (http://www.ncbi.nlm.nih.gov/pubmed/11179217?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/865)
  • Shigesada K, van de Sluis B, Liu PP. Mechanism of leukemogenesis by the inv(16) chimeric gene CBFB/PEBP2B-MHY11. Oncogene. 2004 May 24;23(24):4297-307. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15156186?dopt=Abstract)
  • Yoshida CA, Furuichi T, Fujita T, Fukuyama R, Kanatani N, Kobayashi S, Satake M, Takada K, Komori T. Core-binding factor beta interacts with Runx2 and is required for skeletal development. Nat Genet. 2002 Dec;32(4):633-8. Epub 2002 Nov 18. (http://www.ncbi.nlm.nih.gov/pubmed/12434152?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2013
Published: November 24, 2014