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FLI1 gene

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

FLI1 gene

The FLI1 gene provides instructions for making the FLI protein, which regulates gene activity and is essential for blood cell development.

Normal Function

The FLI1 gene provides instructions for making the FLI protein, which controls the activity (transcription) of genes. The FLI protein is part of the Ets family of transcription factors. It attaches (binds) to certain regions of DNA and turns on the transcription of nearby genes. The proteins produced from these genes control important cellular processes, such as cell growth and division (proliferation), maturation (differentiation), and survival. The FLI protein is found primarily in blood cells and is thought to regulate their development.

Health Conditions Related to Genetic Changes

Ewing sarcoma

Mutations involving the FLI1 gene cause a type of cancerous tumor known as Ewing sarcoma. These tumors develop in bones or soft tissues such as nerves and cartilage. These mutations are acquired during a person's lifetime (somatic mutations) and are not inherited.

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

Jacobsen syndrome

MedlinePlus Genetics provides information about Jacobsen syndrome.

Genomic Location

The FLI1 gene is found on chromosome 11.

Frequently Asked Questions

Jacobsen syndrome is a rare genetic disorder caused by a deletion of genetic material at the end of chromosome 11, specifically in the 11q23 region. The FLI1
Ewing sarcoma often presents with localized pain and swelling in the affected area, which can be a bone or soft tissue. The pain may worsen at night or with activity. Other symptoms can include a noticeable lump or mass, fever, unexplained weight loss, and fatigue. Because these symptoms can be vague and mimic other conditions, it's important to consult a doctor for persistent or worsening pain, especially in children and young adults.
No, Ewing sarcoma is not typically an inherited condition. The genetic changes involving the FLI1 gene that cause Ewing sarcoma are somatic mutations, meaning they are acquired during a person's lifetime and occur only in the tumor cells, not in all cells of the body. Therefore, these mutations are not passed down from parents to children.
Diagnosis of Ewing sarcoma usually involves a combination of imaging studies (like X-rays, MRI, CT scans), a biopsy of the tumor, and genetic testing. The biopsy is crucial for confirming the diagnosis and identifying the specific genetic translocation, such as the t(11;22) fusion of the EWSR1 and FLI1 genes, which is characteristic of Ewing sarcoma. This genetic information helps confirm the diagnosis and can guide treatment decisions.
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.