|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “EWS RNA-binding protein 1.”
EWSR1 is the gene's official symbol. The EWSR1 gene is also known by other names, listed below.
The EWSR1 gene provides instructions for making the EWS protein, whose function is not completely understood. The EWS protein has two regions that contribute to its function. One region, the transcriptional activation domain, allows the EWS protein to turn on (activate) the first step in the production of proteins from genes (transcription). The other region, the RNA-binding domain, allows the EWS protein to attach (bind) to the genetic blueprint for proteins called RNA. The EWS protein may be involved in piecing together this blueprint. Some studies suggest that the RNA-binding domain is able to block (inhibit) the activity of the transcriptional activation domain, and thus regulate the function of the EWS protein.
Mutations involving the EWSR1 gene can cause a type of cancerous tumor known as Ewing sarcoma. These tumors develop in bones or soft tissues, such as nerves and cartilage. There are several types of Ewing sarcoma, including Ewing sarcoma of bone, extraosseous Ewing sarcoma, peripheral primitive neuroectodermal tumor, and Askin tumor. The mutations that cause these tumors are acquired during a person's lifetime and are present only in the tumor cells. This type of genetic change, called a somatic mutation, is not inherited. The most common mutation that causes Ewing sarcoma is a rearrangement (translocation) of genetic material between chromosome 22 and chromosome 11. This translocation, written as t(11;22), fuses part of the EWSR1 gene on chromosome 22 with part of another gene on chromosome 11 called FLI1, creating an EWSR1/FLI1 fusion gene.
The protein produced from the EWSR1/FLI1 fusion gene, called EWS/FLI, has functions of the protein products of both genes. The FLI protein, produced from the FLI1 gene, attaches to DNA and regulates transcription. This protein controls the growth and development of some cell types. The EWS/FLI protein has the DNA-binding function of the FLI protein as well as the transcription regulation function of the EWS protein. It is thought that the EWS/FLI protein turns the transcription of a variety of genes on and off abnormally. This dysregulation of transcription leads to uncontrolled growth and division (proliferation) and abnormal maturation and survival of cells, causing tumor development.
The EWSR1/FLI1 fusion gene occurs in approximately 85 percent of Ewing sarcomas. Translocations that fuse the EWSR1 gene with other genes that are related to the FLI1 gene can also cause these types of tumors, although these alternative translocations are relatively uncommon. The fusion proteins produced from the less common translocations have the same function as the EWS/FLI protein.
Translocations involving the EWSR1 gene are involved in many types of soft tissue sarcoma, which are cancers that cause tumors in soft tissues such as fat, muscles, and nerves. These translocations fuse the EWSR1 gene with one of several other genes. These other genes, sometimes referred to as fusion partners, seem to determine the type of tumor that develops.
The EWSR1/WT1 fusion gene causes desmoplastic small round cell tumor, a type of soft tissue sarcoma that often occurs in the abdomen. The EWSR1/ATF1 fusion gene is involved in a rare type of cancer called soft tissue clear cell sarcoma (or malignant melanoma of soft parts). In this type of cancer, tumors usually develop in the tendons, especially in the knees, feet, and ankles. A translocation that creates the EWSR1/NR4A3 fusion gene causes extraskeletal myxoid chondrosarcoma, which is a rare type of soft tissue tumor that usually occurs in the lower body, such as the thighs or buttocks. The EWSR1/DDIT3 fusion gene is sometimes found in myxoid liposarcomas, although it is an uncommon cause of this type of cancer. Myxoid liposarcomas occur in fatty tissue in many parts of the body.
Cytogenetic Location: 22q12.2
Molecular Location on chromosome 22: base pairs 29,268,008 to 29,300,524
The EWSR1 gene is located on the long (q) arm of chromosome 22 at position 12.2.
More precisely, the EWSR1 gene is located from base pair 29,268,008 to base pair 29,300,524 on chromosome 22.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about EWSR1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
cancer ; cartilage ; cell ; chromosome ; DNA ; domain ; fatty tissue ; fusion gene ; gene ; inherited ; malignant melanoma ; melanoma ; mutation ; oncogene ; peripheral ; proliferation ; protein ; rearrangement ; RNA ; sarcoma ; soft tissue ; somatic mutation ; tissue ; transcription ; translocation ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
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.