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Genetics Home Reference: your guide to understanding genetic conditions
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CREBBP

Reviewed January 2007

What is the official name of the CREBBP gene?

The official name of this gene is “CREB binding protein.”

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

What is the normal function of the CREBBP gene?

The CREBBP gene provides instructions for making CREB binding protein, which regulates the activity of many genes in tissues throughout the body. This protein plays an essential role in controlling cell growth and division and prompting cells to mature and assume specialized functions (differentiate). Studies in animals suggest that this protein may also be involved in the formation of long-term memories. CREB binding protein appears to be critical for normal development before and after birth.

CREB binding protein carries out its function by activating transcription, the process of making a blueprint of a gene for protein production. Specifically, CREB binding protein connects transcription factors, which are proteins that start the transcription process, with the complex of proteins that carries out transcription. On the basis of this function, CREB binding protein is called a transcriptional coactivator.

Does the CREBBP gene share characteristics with other genes?

The CREBBP gene belongs to a family of genes called chromatin-modifying enzymes (chromatin-modifying enzymes).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

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

Rubinstein-Taybi syndrome - caused by mutations in the CREBBP gene

A loss of one copy of the CREBBP gene in each cell causes Rubinstein-Taybi syndrome. In some cases, this loss occurs when a chromosomal rearrangement disrupts the region of chromosome 16 containing the gene. In other cases, mutations within the CREBBP gene itself are responsible for the condition. More than 90 mutations have been identified, including deletions and insertions of genetic material in the gene and changes in single DNA building blocks (nucleotides).

If one copy of the CREBBP gene is deleted or mutated, cells make only half of the normal amount of functional CREB binding protein. Although researchers are uncertain how a reduction in the amount of this protein leads to the specific features of Rubinstein-Taybi syndrome, it is clear that the loss of one copy of the CREBBP gene disrupts normal development before and after birth.

cancers - associated with the CREBBP gene

Genetic changes involving the CREBBP gene have been associated with certain types of cancer. These mutations are somatic, which means they are acquired during a person's lifetime and are present only in certain cells. In some cases, chromosomal rearrangements (translocations) disrupt the region of chromosome 16 that contains the CREBBP gene. For example, researchers have found a translocation between chromosome 8 and chromosome 16 in some people with a cancer of blood-forming cells called acute myeloid leukemia (AML). Another translocation, involving chromosomes 11 and 16, has been found in some people who have undergone cancer treatment. This chromosomal change is associated with the later development of AML and two other cancers of blood-forming tissues (chronic myelogenous leukemia and myelodysplastic syndrome). These are sometimes described as treatment-related cancers because the translocation between chromosomes 11 and 16 occurs following chemotherapy for other forms of cancer.

Somatic mutations in the CREBBP gene also have been identified in several cases of ovarian cancer. Alterations in the CREBBP gene in ovarian cells lead to the production of an abnormally short, inactive version of CREB binding protein. A loss of this protein disrupts the normal regulation of cell growth and division, which can allow cancerous tumors to form. Researchers are working to determine the role of CREBBP mutations in the development and progression of ovarian cancers.

Where is the CREBBP gene located?

Cytogenetic Location: 16p13.3

Molecular Location on chromosome 16: base pairs 3,725,053 to 3,880,119

The CREBBP gene is located on the short (p) arm of chromosome 16 at position 13.3.

The CREBBP gene is located on the short (p) arm of chromosome 16 at position 13.3.

More precisely, the CREBBP gene is located from base pair 3,725,053 to base pair 3,880,119 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 CREBBP?

You and your healthcare professional may find the following resources about CREBBP 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 CREBBP gene or gene products?

  • CBP
  • CBP_HUMAN
  • CREB binding protein (Rubinstein-Taybi syndrome)

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 CREBBP?

acute ; acute myeloid leukemia ; AML ; cancer ; cell ; chemotherapy ; chromosome ; chronic ; DNA ; domain ; gene ; histone ; leukemia ; myelodysplastic syndrome ; myelogenous ; myeloid ; ovarian ; progression ; protein ; rearrangement ; syndrome ; transcription ; translocation

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

References

  • Bartsch O, Schmidt S, Richter M, Morlot S, Seemanová E, Wiebe G, Rasi S. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum Genet. 2005 Sep;117(5):485-93. Epub 2005 Jul 14. (http://www.ncbi.nlm.nih.gov/pubmed/16021471?dopt=Abstract)
  • Bentivegna A, Milani D, Gervasini C, Castronovo P, Mottadelli F, Manzini S, Colapietro P, Giordano L, Atzeri F, Divizia MT, Uzielli ML, Neri G, Bedeschi MF, Faravelli F, Selicorni A, Larizza L. Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients. BMC Med Genet. 2006 Oct 19;7:77. (http://www.ncbi.nlm.nih.gov/pubmed/17052327?dopt=Abstract)
  • Coupry I, Monnet L, Attia AA, Taine L, Lacombe D, Arveiler B. Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR. Hum Mutat. 2004 Mar;23(3):278-84. (http://www.ncbi.nlm.nih.gov/pubmed/14974086?dopt=Abstract)
  • Coupry I, Roudaut C, Stef M, Delrue MA, Marche M, Burgelin I, Taine L, Cruaud C, Lacombe D, Arveiler B. Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. J Med Genet. 2002 Jun;39(6):415-21. (http://www.ncbi.nlm.nih.gov/pubmed/12070251?dopt=Abstract)
  • Gene Review: Rubinstein-Taybi Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1526)
  • Goodman RH, Smolik S. CBP/p300 in cell growth, transformation, and development. Genes Dev. 2000 Jul 1;14(13):1553-77. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10887150?dopt=Abstract)
  • Hallam TM, Bourtchouladze R. Rubinstein-Taybi syndrome: molecular findings and therapeutic approaches to improve cognitive dysfunction. Cell Mol Life Sci. 2006 Aug;63(15):1725-35. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16786226?dopt=Abstract)
  • Kalkhoven E, Roelfsema JH, Teunissen H, den Boer A, Ariyurek Y, Zantema A, Breuning MH, Hennekam RC, Peters DJ. Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. Hum Mol Genet. 2003 Feb 15;12(4):441-50. (http://www.ncbi.nlm.nih.gov/pubmed/12566391?dopt=Abstract)
  • McManus KJ, Hendzel MJ. CBP, a transcriptional coactivator and acetyltransferase. Biochem Cell Biol. 2001;79(3):253-66. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11467739?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1387)
  • Roelfsema JH, White SJ, Ariyürek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJ, Breuning MH, Hennekam RC, Peters DJ. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005 Apr;76(4):572-80. Epub 2005 Feb 10. (http://www.ncbi.nlm.nih.gov/pubmed/15706485?dopt=Abstract)
  • Rozman M, Camós M, Colomer D, Villamor N, Esteve J, Costa D, Carrió A, Aymerich M, Aguilar JL, Domingo A, Solé F, Gomis F, Florensa L, Montserrat E, Campo E. Type I MOZ/CBP (MYST3/CREBBP) is the most common chimeric transcript in acute myeloid leukemia with t(8;16)(p11;p13) translocation. Genes Chromosomes Cancer. 2004 Jun;40(2):140-5. (http://www.ncbi.nlm.nih.gov/pubmed/15101047?dopt=Abstract)
  • Ward R, Johnson M, Shridhar V, van Deursen J, Couch FJ. CBP truncating mutations in ovarian cancer. J Med Genet. 2005 Jun;42(6):514-8. (http://www.ncbi.nlm.nih.gov/pubmed/15937088?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: January 2007
Published: October 20, 2014