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Reviewed May 2012
What is the official name of the EWSR1 gene?
The official name of this gene is “Ewing sarcoma breakpoint region 1.”
EWSR1 is the gene's official symbol. The EWSR1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the EWSR1 gene?
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.
How are changes in the EWSR1 gene related to health conditions?
Where is the EWSR1 gene located?
Cytogenetic Location: 22q12.2
Molecular Location on chromosome 22: base pairs 29,663,997 to 29,696,514
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 29,663,997 to base pair 29,696,514 on chromosome 22.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about EWSR1?
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.
What other names do people use for the EWSR1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding EWSR1?
cancer ; cartilage ; cell ; chromosome ; DNA ; domain ; fatty tissue ; gene ; 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.
See also Understanding Medical Terminology.
References (8 links)
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? in the Handbook.