FGF2
Chr 4fibroblast growth factor 2
Also known as: BFGF, FGF-2, FGFB, HBGF-2
This protein functions as a fibroblast growth factor that binds to multiple FGF receptors and integrins to regulate cell survival, division, differentiation, migration, and angiogenesis, with particular importance in limb and nervous system development. Mutations in FGF2 cause craniosynostosis, and the gene shows tolerance to loss-of-function variants based on population genetics data. Inheritance pattern has not been definitively established for FGF2-related craniosynostosis.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
99 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 24 | 0 | 24 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 48 | 7 | 0 | 55 |
Likely Benign | 0 | 4 | 0 | 3 | 7 |
Benign | 0 | 1 | 1 | 0 | 2 |
| Total | 0 | 53 | 33 | 3 | 89 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FGF2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Clinical Research on Acute Intermittent Porphyria and the Use of Carbohydrate-Rich Diet as a Treatment
RECRUITINGNintedanib and Azacitidine in Treating Participants With HOX Gene Overexpression Relapsed or Refractory Acute Myeloid Leukemia
ACTIVE NOT RECRUITINGHuman Milk Oligosaccharides (HMOs) and Gut Microbiota, Immune System in Antarctica
ENROLLING BY INVITATIONStatin Intervention for Severe Early-Onset Placental Insufficiency. (STATIN-PRE Trial)
RECRUITINGEvexomostat Plus PI3K or AKT Inhibitor and Fulvestrant in Patients With a PI3K Alteration and HR+/Her2- Breast Cancer
RECRUITINGExternal Resources
Links to major genomics databases and tools