Meyahealth
HomeGeneticsGeneFGFR2 gene
Back to Gene
FGFR2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

FGFR2 gene

The FGFR2 gene provides instructions for a protein that regulates critical developmental processes, including bone growth and cell maturation.

Normal Function

The FGFR2 gene provides instructions for making the fibroblast growth factor receptor 2 (FGFR2) protein. This receptor spans the cell membrane, allowing it to interact with growth factors outside the cell and receive signals that instruct the cell to mature or undergo specific changes. It plays a vital role in bone growth, particularly during embryonic development, by signaling immature cells to become bone cells in the head, hands, and feet. It is also involved in bone remodeling, wound healing, and the formation of blood vessels.

Health Conditions Related to Genetic Changes

Mutations in the FGFR2 gene are associated with several conditions involving abnormal bone development and craniosynostosis (premature closure of skull bones):

  • Apert syndrome: Caused by "gain-of-function" mutations that increase protein activity, leading to premature fusion of skull, hand, and foot bones.
  • Beare-Stevenson cutis gyrata syndrome: Characterized by craniosynostosis and a skin abnormality called cutis gyrata.
  • Crouzon syndrome: Involves craniosynostosis, often leading to vision, hearing, and dental problems.
  • Jackson-Weiss syndrome: Causes craniosynostosis and foot abnormalities.
  • Lacrimo-auriculo-dento-digital (LADD) syndrome: Caused by mutations that reduce the protein's signaling ability, resulting in abnormal tear and saliva production, malformed ears, and hand deformities.
  • Pfeiffer syndrome: Causes craniosynostosis and abnormalities of the elbows, hands, or feet.

Cancers

Altered activity of the FGFR2 gene is associated with various cancers, including stomach, prostate, ovarian, breast, cervical, endometrial, pancreatic, lung, and head and neck cancers. Abnormal expression can enhance cancer-promoting functions such as cell proliferation, movement, and angiogenesis.

Other Names for This Gene

  • bacteria-expressed kinase
  • BEK
  • BEK fibroblast growth factor receptor
  • CD332
  • keratinocyte growth factor receptor
  • KGFR

Frequently Asked Questions

Gain-of-function mutations, which increase the activity of the FGFR2 protein, are typically associated with craniosynostosis syndromes like Apert, Crouzon, and Pfeiffer syndromes, leading to premature fusion of skull bones and often affecting the hands and feet. Loss-of-function mutations, which reduce the protein's signaling ability, are associated with conditions like LADD syndrome, characterized by abnormal tear and saliva production, malformed ears, and hand deformities, but without the typical craniosynostosis seen in gain-of-function cases.
The premature fusion of skull bones restricts brain growth, which can lead to increased intracranial pressure, headaches, and vision problems due to pressure on the optic nerves. It can also cause facial asymmetry and dental issues. In syndromes like Apert and Pfeiffer, the condition often extends to the hands and feet, causing syndactyly (webbed fingers or toes) or broad thumbs, which may require surgical correction to improve function and prevent secondary complications.
Many FGFR2-related conditions, such as Apert and Crouzon syndromes, are autosomal dominant, meaning only one copy of the mutated gene is needed to cause the condition. If a parent has the mutation, there is a 50 percent chance of passing it to each child. However, a significant number of these cases arise from new (de novo) mutations in the egg or sperm, meaning there is no family history. Genetic counseling is recommended to determine the specific inheritance pattern and recurrence risks for a family.
In cancers such as breast, gastric, and endometrial, FGFR2 mutations or amplifications can lead to uncontrolled cell growth, survival, and blood vessel formation (angiogenesis). These alterations act as oncogenic drivers by keeping the growth signal constantly active. Clinically, FGFR2 status is increasingly used to guide targeted therapy, where drugs specifically inhibit the FGFR2 protein to slow tumor growth in patients whose tumors test positive for these alterations.
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.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ