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FGFR2

fibroblast growth factor receptor 2

The FGFR2 gene provides instructions for fibroblast growth factor receptor 2, a protein vital for cellular processes including growth, division, differentiation, and bone development. The FGFR2 gene is responsible for producing the fibroblast growth factor receptor 2 protein.

Chromosome 10q26.13 Polygenic HGNC:3689
FGFR2 10q26.13 p arm q arm 10

FGFR2 is located on the long (q) arm of chromosome 10, at band 10q26.13. Arm ratio per GRCh38 - banding schematic.

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Clinical tests that include this

KNOVA NIPT
FGFR2 is 1 of 56 genes on this panel
Prenatal NIPT screening (trisomies, microdeletions, single-gene conditions)

Overview

The FGFR2 gene encodes the fibroblast growth factor receptor 2 protein, a key component in cell signalling pathways [PMID:32549226]. These pathways are essential for numerous biological functions, including cell multiplication, cell maturation into specialised types, and the formation of new blood vessels.

FGFR2 is particularly important in embryonic development, guiding the formation of structures like the head, hands, and feet. It also contributes to ongoing processes such as bone remodelling and wound healing throughout life.

What the gene does

Fibroblast growth factor receptor 2 (FGFR2) is a transmembrane protein that acts as a receptor on the surface of cells, facilitating communication with their external environment. When specific growth factors bind to the extracellular part of FGFR2, this initiates intracellular signalling pathways that regulate cellular behaviour.

These signals instruct the cell to undergo specific changes, such as maturation into specialised cell types or orchestrating processes like bone growth and remodelling [PMID:17968800]. FGFR2 is integral to bone development, especially during prenatal stages. It directs precursor cells along the osteogenic pathway during skeletal formation. It also participates in the ongoing cycle of skeletal turnover and renewal. The gene produces several protein variants (isoforms), each with specific distribution patterns across different tissues, which may change during growth and development.

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Chromosome location

The FGFR2 gene is located on chromosome 10 at band 10q26.13. This specific genomic position helps define its location within the human genome and is consistent across individuals. The gene's chromosomal placement allows for its organised expression and involvement in various cellular pathways.

Protein structure

The FGFR2 protein has a length of 821 amino acids and features several distinct domains critical for its function. It possesses three Ig-like C2-type domains, with the first located at amino acids 25-125, the second at 154-247, and the third at 256-358. A disordered region is found between amino acids 131-151, and a heparin-binding region is present at amino acids 161-178. The intracellular part of the protein contains a significant protein kinase domain, spanning amino acids 481-770, which is crucial for initiating signalling cascades within the cell.

Domain map · 821 amino acids
Ig-like C2-type 1 (25–125)Ig-like C2-type 2 (154–247)Heparin-binding (161–178)Ig-like C2-type 3 (256–358)Protein kinase (481–770)Ig-like C2-type 125–125Ig-like C2-type 3256–358Protein kinase481–7701~411821
Domain - independent functional unit
Region - functional region
🧬 Explore 3D structure on AlphaFold
UniProt:P21802Length:821 aaStructure:AlphaFold

Key variants

Variations within the FGFR2 gene can influence protein function and are associated with a spectrum of conditions. These genetic changes can alter how the fibroblast growth factor receptor 2 protein interacts with its ligands or how it signals within the cell. Understanding these variants is crucial for comprehending their potential impact on development and health outcomes.

923
Total variants catalogued in ClinVar
View all on ClinVar →
129 Pathogenic / Likely pathogenic 381 Uncertain significance 360 Benign / Likely benign 53 Conflicting or other

Sample of pathogenic variants

10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.

Variant (HGVS) Protein change Classification Evidence Associated condition
c.1007A>G
single nucleotide variant
 p.Asp336Gly Pathogenic/Likely pathogenic ★★☆☆ Crouzon syndrome
c.1009G>C
single nucleotide variant
 p.Ala337Pro Pathogenic/Likely pathogenic ★★☆☆ Crouzon syndrome
c.1012G>C
single nucleotide variant
 p.Gly338Arg Pathogenic ★★☆☆ Crouzon syndrome
c.1013G>A
single nucleotide variant
 p.Gly338Glu Pathogenic/Likely pathogenic ★★☆☆ Crouzon syndrome
c.1018T>C
single nucleotide variant
 p.Tyr340His Pathogenic/Likely pathogenic ★★☆☆ Crouzon syndrome
c.1019A>G
single nucleotide variant
 p.Tyr340Cys Pathogenic ★★☆☆ not provided
c.1021A>C
single nucleotide variant
 p.Thr341Pro Pathogenic ★★☆☆ Pfeiffer syndrome
c.1024T>A
single nucleotide variant
 p.Cys342Ser Pathogenic ★★☆☆ Crouzon syndrome
c.1024T>C
single nucleotide variant
 p.Cys342Arg Pathogenic ★★☆☆ Crouzon syndrome
c.1024T>G
single nucleotide variant
 p.Cys342Gly Pathogenic ★★☆☆ Pfeiffer syndrome

Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.

Associated conditions

Pathogenic variants in the FGFR2 gene are associated with several genetic conditions, many of which involve abnormal bone development. These include syndromic forms of craniosynostosis such as Apert syndrome, Crouzon syndrome, and Pfeiffer syndrome. These conditions often share features related to premature fusion of skull bones and distinctive facial characteristics.

UK clinical status

In the UK, the FGFR2 gene is under active evaluation and is included within several NHS Genomic Medicine Service national test directories via PanelApp. It is covered in panels for conditions such as Arthrogryposis, Choanal atresia, Clefting, Common craniosynostosis syndromes (R99), and Foetal anomalies (R21). Further inclusions are for Hydrocephalus (R86), Limb disorders, Mosaic skin disorders - deep sequencing (R327), Radial dysplasia, Rare syndromic craniosynostosis or isolated multisuture synostosis (R100), Skeletal dysplasia (R104), and Undiagnosed metabolic disorders.

Green-listed
High evidence · clinically actionable in NHS testing
Included in NHS GMS signed-off panels
Arthrogryposis · R83 NHS GMS → Common craniosynostosis syndromes · R99 NHS GMS → Fetal anomalies · R21 NHS GMS → Hydrocephalus · R86 NHS GMS → Likely inborn error of metabolism · R98 NHS GMS → Mosaic skin disorders - Deep sequencing · R327 NHS GMS → Rare syndromic craniosynostosis or isolated multisuture synostosis · R100 NHS GMS → Skeletal dysplasia · R104 NHS GMS →
NHS Genomic Medicine Service Jeen carrier screening

Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory

Diet & lifestyle considerations

General lifestyle choices that support overall health may contribute to well-being, though there is no specific evidence directly linking lifestyle interventions to the prevention or treatment of FGFR2-related conditions. A balanced diet and regular physical activity are generally recommended for maintaining good health and can indirectly support bone health. However, these suggestions are not a substitute for clinical management for individuals with FGFR2-related disorders.

Supplement considerations

Currently, there is no conclusive scientific evidence to suggest that specific supplements can prevent, treat, or mitigate the effects of conditions associated with variants in the FGFR2 gene. Individuals considering any supplements should consult with a healthcare professional. This ensures safety and avoids potential interactions with existing medical conditions or treatments, as unverified claims exist for a wide range of supplements.

Frequently asked questions

What is the primary function of the FGFR2 gene?

The FGFR2 gene provides instructions for making the fibroblast growth factor receptor 2 protein, which is vital for cell growth, division, differentiation, and bone development, particularly during embryonic stages.

Which conditions are associated with variants in the FGFR2 gene?

Variants in the FGFR2 gene are linked to several inherited disorders, including Apert syndrome, Crouzon syndrome, and Pfeiffer syndrome, which are types of craniosynostosis affecting skull development.

Is FGFR2 important for bone development?

Yes, FGFR2 plays a crucial role in bone growth and remodelling. It signals immature cells to become bone cells and is involved in the continuous process of breaking down old bone and forming new bone tissue.

Where is the FGFR2 gene located?

The FGFR2 gene is situated on chromosome 10 at band 10q26.13 within the human genome.

Can lifestyle changes help manage FGFR2-related conditions?

While general healthy lifestyle practices like a balanced diet and exercise support overall health, there is no specific evidence that they can prevent or treat FGFR2-related genetic conditions. Management of these conditions typically involves clinical interventions.

References

  1. Azoury SC, Reddy S, Shukla V. Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis. International journal of biological sciences. 2017. PMID: 29230096
  2. Katoh M. Therapeutics Targeting FGF Signaling Network in Human Diseases. Trends in pharmacological sciences. 2016. PMID: 27992319
  3. Chokdeemboon C, Mahatumarat C, Rojvachiranonda N. FGFR1 and FGFR2 mutations in Pfeiffer syndrome. The Journal of craniofacial surgery. 2013. PMID: 23348274
  4. McGlaughlin KL, Witherow H, Dunaway DJ. Spectrum of Antley-Bixler syndrome. The Journal of craniofacial surgery. 2010. PMID: 20818252
  5. Shams I, Rohmann E, Eswarakumar VP. Lacrimo-auriculo-dento-digital syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathway. Molecular and cellular biology. 2007. PMID: 17682060
  6. Lew ED, Bae JH, Rohmann E. Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. Proceedings of the National Academy of Sciences of the United States of America. 2007. PMID: 18056630
  7. Lajeunie E, Heuertz S, El Ghouzzi V. Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. European journal of human genetics : EJHG. 2006. PMID: 16418739
  8. Rohmann E, Brunner HG, Kayserili H. Mutations in different components of FGF signaling in LADD syndrome. Nature genetics. 2006. PMID: 16501574
  9. Ibrahimi OA, Chiu ES, McCarthy JG. Understanding the molecular basis of Apert syndrome. Plastic and reconstructive surgery. 2005. PMID: 15622262
  10. Carinci F, Pezzetti F, Locci P. Apert and Crouzon syndromes: clinical findings, genes and extracellular matrix. The Journal of craniofacial surgery. 2005. PMID: 15915098
  11. Naimi B, Latil A, Fournier G. Down-regulation of (IIIb) and (IIIc) isoforms of fibroblast growth factor receptor 2 (FGFR2) is associated with malignant progression in human prostate. The Prostate. 2002. PMID: 12111699
  12. Wilkie AO, Patey SJ, Kan SH. FGFs, their receptors, and human limb malformations: clinical and molecular correlations. American journal of medical genetics. 2002. PMID: 12357470
  13. Shin EY, Lee BH, Yang JH. Up-regulation and co-expression of fibroblast growth factor receptors in human gastric cancer. Journal of cancer research and clinical oncology. 2000. PMID: 11003564
Educational content. This page is not medical or genetic advice, is not individually reviewed by a clinician for each reader, and should not replace a consultation with a qualified healthcare professional or genetic counsellor. If you are considering genetic testing or acting on a test result, book a consultation.
Data sources Last updated 26 July 2026. Content compiled from HGNC · MedlinePlus Genetics · ClinGen · Genomics England PanelApp · NHS National Genomic Test Directory · ClinVar · UniProt · AlphaFold .