Reviewed January 2007
What is the official name of the EP300 gene?
The official name of this gene is “E1A binding protein p300.”
EP300 is the gene's official symbol. The EP300 gene is also known by other names, listed below.
What is the normal function of the EP300 gene?
The EP300 gene provides instructions for making a protein called p300. This protein regulates the activity of many genes in tissues throughout the body. It plays an essential role in controlling cell growth and division and prompting cells to mature and assume specialized functions (differentiate). The p300 protein appears to be critical for normal development before and after birth.
The p300 protein carries out its function by activating transcription, the process of making a blueprint of a gene for protein production. Specifically, p300 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, p300 is called a transcriptional coactivator.
Does the EP300 gene share characteristics with other genes?
The EP300 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 EP300 gene related to health conditions?
- Rubinstein-Taybi syndrome - caused by mutations in the EP300 gene
Several mutations in the EP300 gene have been identified in people with Rubinstein-Taybi syndrome. These genetic changes are responsible for a small percentage of cases of this condition. Some mutations lead to the production of an abnormally small, nonfunctional version of the p300 protein, while other mutations prevent one copy of the gene from making any protein at all. These genetic changes all result in the loss of one functional copy of the EP300 gene in each cell, which reduces the amount of p300 protein by half. 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 EP300 gene disrupts normal development before and after birth.
- cancers - associated with the EP300 gene
Rarely, chromosomal rearrangements (translocations) involving chromosome 22 have been associated with certain types of cancer. These genetic changes are somatic, which means they are acquired during a person's lifetime and are present only in certain cells. In cancer cells, translocations can disrupt the region of chromosome 22 that contains the EP300 gene. For example, researchers have found a translocation between chromosome 8 and chromosome 22 in several people with a cancer of blood-forming cells called acute myeloid leukemia (AML). Another translocation, involving chromosomes 11 and 22, has been found in a small number of people who have undergone cancer treatment. This chromosomal change is associated with the development of AML following chemotherapy for other forms of cancer.
Somatic mutations in the EP300 gene have been identified in several other types of cancer. These mutations prevent the gene from producing any functional protein. Cells without the p300 protein cannot effectively restrain growth and division, allowing cancerous tumors to develop and grow. Somatic mutations in the EP300 gene have been found in a small number of solid tumors, including cancers of the colon and rectum, stomach, breast, and pancreas. Studies suggest that EP300 mutations may also play a role in the development of some prostate cancers. These genetic changes could help predict whether prostate tumors will increase in size or spread to other parts of the body.
Where is the EP300 gene located?
Cytogenetic Location: 22q13.2
Molecular Location on chromosome 22: base pairs 41,092,610 to 41,180,077
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/2033))
The EP300 gene is located on the long (q) arm of chromosome 22 at position 13.2.
More precisely, the EP300 gene is located from base pair 41,092,610 to base pair 41,180,077 on chromosome 22.
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 EP300?
You and your healthcare professional may find the following resources about EP300 helpful.
Educational resources - Information pages
- Cancer Medicine (sixth edition, 2003): Chromosomal Abnormalities Involving Transcriptional Coactivators (http://www.ncbi.nlm.nih.gov/books/NBK12465/)
- Molecular Biology of the Cell (fourth edition, 2002): Eucaryotic Gene Regulatory Proteins Often Assemble into Complexes on DNA (http://www.ncbi.nlm.nih.gov/books/NBK26872/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1526)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for EP300 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2033%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28EP300%5BTI%5D%29%20OR%20%28E1A%20binding%20protein%20p300%5BTI%5D%29%29%20OR%20%28%28E1A-binding%20protein,%20300kD%5BTI%5D%29%20OR%20%28p300%5BTI%5D%29%20OR%20%28p300%20E1A-Associated%20Coactivator%5BTI%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog
- COLORECTAL CANCER (http://omim.org/entry/114500)
- E1A-BINDING PROTEIN, 300-KD (http://omim.org/entry/602700)
- LEUKEMIA, ACUTE MYELOID (http://omim.org/entry/601626)
- PROSTATE CANCER (http://omim.org/entry/176807)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/P300ID97.html)
- HGNC Gene Family: K(lysine) acetyltransferases (http://www.genenames.org/cgi-bin/genefamilies/set/486)
- HGNC Gene Family: Zinc fingers, ZZ-type (http://www.genenames.org/cgi-bin/genefamilies/set/91)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=3373)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2033)
What other names do people use for the EP300 gene or gene products?
- E1A-associated protein p300
- E1A-binding protein, 300kD
- p300 E1A-Associated Coactivator
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 EP300?
acute myeloid leukemia ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Bartholdi D, Roelfsema JH, Papadia F, Breuning MH, Niedrist D, Hennekam RC, Schinzel A, Peters DJ. Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. J Med Genet. 2007 May;44(5):327-33. Epub 2007 Jan 12. (http://www.ncbi.nlm.nih.gov/pubmed/17220215?dopt=Abstract)
- Chaffanet M, Gressin L, Preudhomme C, Soenen-Cornu V, Birnbaum D, Pébusque MJ. MOZ is fused to p300 in an acute monocytic leukemia with t(8;22). Genes Chromosomes Cancer. 2000 Jun;28(2):138-44. (http://www.ncbi.nlm.nih.gov/pubmed/10824998?dopt=Abstract)
- Debes JD, Sebo TJ, Lohse CM, Murphy LM, Haugen DA, Tindall DJ. p300 in prostate cancer proliferation and progression. Cancer Res. 2003 Nov 15;63(22):7638-40. (http://www.ncbi.nlm.nih.gov/pubmed/14633682?dopt=Abstract)
- Gayther SA, Batley SJ, Linger L, Bannister A, Thorpe K, Chin SF, Daigo Y, Russell P, Wilson A, Sowter HM, Delhanty JD, Ponder BA, Kouzarides T, Caldas C. Mutations truncating the EP300 acetylase in human cancers. Nat Genet. 2000 Mar;24(3):300-3. (http://www.ncbi.nlm.nih.gov/pubmed/10700188?dopt=Abstract)
- 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)
- Ida K, Kitabayashi I, Taki T, Taniwaki M, Noro K, Yamamoto M, Ohki M, Hayashi Y. Adenoviral E1A-associated protein p300 is involved in acute myeloid leukemia with t(11;22)(q23;q13). Blood. 1997 Dec 15;90(12):4699-704. (http://www.ncbi.nlm.nih.gov/pubmed/9389684?dopt=Abstract)
- Iyer NG, Ozdag H, Caldas C. p300/CBP and cancer. Oncogene. 2004 May 24;23(24):4225-31. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15156177?dopt=Abstract)
- Janknecht R. The versatile functions of the transcriptional coactivators p300 and CBP and their roles in disease. Histol Histopathol. 2002 Apr;17(2):657-68. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11962765?dopt=Abstract)
- Kalkhoven E. CBP and p300: HATs for different occasions. Biochem Pharmacol. 2004 Sep 15;68(6):1145-55. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15313412?dopt=Abstract)
- Kitabayashi I, Aikawa Y, Yokoyama A, Hosoda F, Nagai M, Kakazu N, Abe T, Ohki M. Fusion of MOZ and p300 histone acetyltransferases in acute monocytic leukemia with a t(8;22)(p11;q13) chromosome translocation. Leukemia. 2001 Jan;15(1):89-94. (http://www.ncbi.nlm.nih.gov/pubmed/11243405?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2033)
- 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)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.