FOXF2: Forkhead Box F2 Gene
Transcriptional Regulator in Development and Disease
Gene Information Card
| Symbol | FOXF2 |
|---|---|
| Full Name | Forkhead Box F2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p25.3 |
| NCBI Gene ID | 2295 ncbi.nlm.nih.gov/gene/2295 |
| Ensembl ID | ENSG00000137265 |
| UniProt ID | Q12947 |
| OMIM ID | 603250 |
| HGNC ID | 3809 |
| Aliases | FKHL6, FREAC2, FREAC-2 |
Description
FOXF2 encodes a member of the forkhead family of transcription factors, characterized by a distinct forkhead DNA-binding domain. This protein plays a critical role in embryonic development, particularly in the formation of the lungs, palate, and other tissues. It regulates gene expression by binding to specific DNA sequences and is involved in cell proliferation, differentiation, and migration. Mutations in FOXF2 are associated with developmental disorders including lung hypoplasia and cleft palate.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung hypoplasia | Loss-of-function mutations impair lung branching morphogenesis | ClinVar, OMIM |
| Cleft palate | Disrupted transcriptional regulation of palatal development | ClinVar, OMIM |
| Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) | Heterozygous mutations lead to abnormal lung vascular development | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Small intestine | 8.2 | Low |
| Stomach | 6.1 | Low |
| Kidney | 4.3 | Low |
| Placenta | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.0 | High expression |
| HepG2 (hepatocellular carcinoma) | 2.1 | Low expression |
| K562 (leukemia) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.250C>T (p.Arg84Trp) | Missense | Rare | Loss of DNA-binding activity |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
| c.1030_1031del (p.Leu344Glufs*12) | Frameshift | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported FOXF2 mutations are loss-of-function, leading to haploinsufficiency and developmental defects.
Gain of Function (GOF)
No gain-of-function mutations have been reported in FOXF2.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner by interfering with wild-type FOXF2 function.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • regulation of transcription by RNA polymerase II | • lung development |
| • palate development | • cell differentiation |
Pathways
• Hippo signaling pathway
• TGF-beta signaling pathway
• Developmental biology
Protein Summary
FOXF2 is a 444-amino acid transcription factor containing a forkhead domain that binds DNA as a monomer. It localizes to the nucleus and regulates target genes involved in mesenchymal-epithelial interactions during organogenesis. The protein is essential for lung branching morphogenesis and palatal fusion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FOXF2 Knockout HEK293 Cell Line | EDJ-KQ4602 | Human | 2295 | Details Get a Quote |
| FOXF2 Knockout A-549 Cell Line | EDJ-KQ26019 | Human | 2295 | Details Get a Quote |
| FOXF2 Knockout HeLa Cell Line | EDJ-KQ27270 | Human | 2295 | Details Get a Quote |
| FOXF2 Knockout HCT 116 Cell Line | EDJ-KQ70206 | Human | 2295 | Details Get a Quote |
