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EWSR1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

EWSR1 gene

The EWSR1 gene provides instructions for making the EWS protein, which plays a role in gene transcription and RNA processing, and is frequently involved in the development of various cancers when mutated.

Normal Function

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:

  • Transcriptional activation domain: Allows the EWS protein to turn on (activate) the first step in the production of proteins from genes (transcription).
  • 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.

Health Conditions Related to Genetic Changes

Ewing sarcoma

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. The mutations that cause these tumors are acquired during a person's lifetime (somatic mutations) and are present only in the tumor cells.

The most common mutation is a rearrangement (translocation) of genetic material between chromosome 22 and chromosome 11, written as t(11;22). This fuses part of the EWSR1 gene with the FLI1 gene, creating an EWSR1/FLI1 fusion gene. The resulting EWS/FLI protein abnormally turns the transcription of various genes on and off, leading to uncontrolled cell growth and tumor development.

Other cancers

Translocations involving the EWSR1 gene are involved in many types of soft tissue sarcoma. These translocations fuse the EWSR1 gene with various fusion partners:

  • EWSR1/WT1: Causes desmoplastic small round cell tumor.
  • EWSR1/ATF1: Involved in soft tissue clear cell sarcoma.
  • EWSR1/NR4A3: Causes extraskeletal myxoid chondrosarcoma.
  • EWSR1/DDIT3: Sometimes found in myxoid liposarcomas.

Other Names for This Gene

  • Ewing sarcoma breakpoint region 1
  • Ewings sarcoma EWS-Fli1 (type 1) oncogene
  • EWS
  • EWS RNA-binding protein 1
  • EWS_HUMAN
  • RNA-binding protein EWS

Frequently Asked Questions

No, Ewing sarcoma is not typically an inherited condition. The mutations involving the EWSR1 gene that cause Ewing sarcoma are acquired during a person's lifetime, meaning they are somatic mutations. These genetic changes are present only in the tumor cells and are not passed down from parents to children.
The EWSR1 gene mutation in Ewing sarcoma is typically identified through genetic testing of a tumor biopsy. The most common finding is a specific rearrangement of genetic material between chromosome 22 and chromosome 11, known as a t(11;22) translocation. This creates an EWSR1/FLI1 fusion gene. Detecting this specific fusion gene is a key diagnostic marker for Ewing sarcoma and helps differentiate it from other types of cancer.
The most common symptoms of Ewing sarcoma include localized pain and swelling in the affected area, often in a bone or soft tissue. Other signs can include a palpable lump, fever, unexplained weight loss, and fatigue. These symptoms can sometimes be mistaken for other conditions, so persistent or worsening symptoms, especially in children and young adults, warrant prompt medical attention.
Translocations involving the EWSR1 gene are not exclusive to Ewing sarcoma. They are also found in several other types of soft tissue sarcomas, including desmoplastic small round cell tumor, myxoid liposarcoma, clear cell sarcoma, and angiomatoid fibrous histiocytoma. The specific partner gene that fuses with EWSR1 determines the type of sarcoma.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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