GENE REFERENCE / HGNC:3689

FGFR2

fibroblast growth factor receptor 2

protein-coding gene10q26.13Gene information

What does this gene do?

The FGFR2 gene provides instructions for making a protein called fibroblast growth factor receptor 2 (FGFR2). Fibroblast growth factor receptors are related proteins that are involved in important processes such as cell growth and division (proliferation), cell maturation (differentiation), bone development, formation of blood vessels (angiogenesis), wound healing, and embryonic development.

The FGFR2 protein spans the outer membrane surrounding cells, so that one end of the protein remains inside the cell and the other end projects from the outer surface of the cell. This positioning allows the FGFR2 protein to interact with specific growth factors outside the cell and to receive signals that help the cell respond to its environment. When growth factors attach to the FGFR2 protein, the receptor triggers a series of chemical reactions inside the cell that instruct the cell to undergo certain changes, such as maturing to take on specialized functions.

The FGFR2 protein plays an important role in bone growth, particularly during development before birth (embryonic development). For example, this protein signals certain immature cells in the developing embryo to become bone cells and form the head, hands, feet, and other tissues. The protein is also involved in bone remodeling, a normal process in which old bone is broken down and new bone is created to replace it.

There are several slightly different versions (isoforms) of the FGFR2 protein. Specific patterns of these isoforms are found in the body's tissues, and these patterns may change throughout growth and development.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-04-10. Source review: 2020-06.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
Apert syndromeMONDO:0007041 · Evaluated 2021-12-14	Autosomal dominant	DefinitiveCraniofacial Malformations Gene Curation Expert Panel
bent bone dysplasia syndrome 1MONDO:0013815 · Evaluated 2022-05-19	Autosomal dominant	DefinitiveCraniofacial Malformations Gene Curation Expert Panel
Beare-Stevenson cutis gyrata syndromeMONDO:0007412 · Evaluated 2022-03-31	Autosomal dominant	DefinitiveCraniofacial Malformations Gene Curation Expert Panel
Crouzon syndromeMONDO:0007405 · Evaluated 2021-12-23	Autosomal dominant	DefinitiveCraniofacial Malformations Gene Curation Expert Panel
LADD syndromeMONDO:0007872 · Evaluated 2022-06-16	Autosomal dominant	LimitedCraniofacial Malformations Gene Curation Expert Panel
Pfeiffer syndromeMONDO:0007043 · Evaluated 2022-03-21	Autosomal dominant	DefinitiveCraniofacial Malformations Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 1,047
Submissions for variants in or overlapping this gene: 2,424
Submissions explicitly reporting this gene: 2,338
Alleles reported pathogenic / likely pathogenic: 142
VariationIDs with uncertain significance: 404
VariationIDs with conflicting classifications: 57

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about FGFR2?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 142 alleles in FGFR2 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in FGFR2.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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