GENE REFERENCE / HGNC:3690

FGFR3

fibroblast growth factor receptor 3

protein-coding gene4p16.3Gene information

What does this gene do?

The FGFR3 gene provides instructions for making a protein called fibroblast growth factor receptor 3. This protein is part of a family of four fibroblast growth factor receptors that share similar structures and functions. These proteins play a role in several important cellular processes, including regulation of cell growth and division (proliferation), determination of cell type, formation of blood vessels (angiogenesis), wound healing, and embryo development.

The FGFR3 protein spans the cell membrane, so that one end of the protein remains inside the cell and the other end projects from the outer surface of the cell. This allows the protein to interact with specific growth factors outside the cell and receive signals that control growth and development. When these growth factors attach to the FGFR3 protein, the protein is turned on (activated). This triggers a cascade of chemical reactions inside the cell that instruct the cell to undergo certain changes, such as maturing to take on specialized functions (differentiation).

Several versions (isoforms) of the FGFR3 protein are produced from the FGFR3 gene. The different isoforms are found in various tissues of the body, and they interact with a variety of growth factors. Many isoforms are found in the cells that form bones. Researchers believe that the FGFR3 protein regulates bone growth by limiting the formation of bone from cartilage. Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. The process of converting cartilage to bone is called ossification. One particular isoform of the FGFR3 protein is found specifically in cells that line the surfaces of the body (epithelial cells), including the cells that form the outermost layer of skin, called the epidermis.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-05-29. Source review: 2023-06.

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
achondroplasiaMONDO:0007037 · Evaluated 2023-09-28	Autosomal dominant	DefinitiveSkeletal Disorders Gene Curation Expert Panel
hypochondroplasiaMONDO:0007793 · Evaluated 2023-09-28	Autosomal dominant	DefinitiveSkeletal Disorders Gene Curation Expert Panel
thanatophoric dysplasiaMONDO:0017042 · Evaluated 2022-01-13	Autosomal dominant	DefinitiveSkeletal Disorders Gene Curation Expert Panel
camptodactyly-tall stature-scoliosis-hearing loss syndromeMONDO:0012504 · Evaluated 2026-08-24	Semidominant	ModerateSkeletal Disorders Gene Curation Expert Panel
Crouzon syndrome-acanthosis nigricans syndromeMONDO:0012833 · Evaluated 2021-11-18	Autosomal dominant	DefinitiveCraniofacial Malformations Gene Curation Expert Panel
severe achondroplasia-developmental delay-acanthosis nigricans syndromeMONDO:0014658 · Evaluated 2022-05-09	Autosomal dominant	ModerateSkeletal Disorders Gene Curation Expert Panel
Muenke syndromeMONDO:0011274 · Evaluated 2022-03-29	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: 1,527
Submissions for variants in or overlapping this gene: 3,294
Submissions explicitly reporting this gene: 3,073
Alleles reported pathogenic / likely pathogenic: 70
VariationIDs with uncertain significance: 614
VariationIDs with conflicting classifications: 90

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 FGFR3?

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 70 alleles in FGFR3 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 FGFR3.

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

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