FOXL1: Forkhead Box L1 Gene
A key transcription factor in gastrointestinal development and cancer
Gene Information Card
| Symbol | FOXL1 |
|---|---|
| Full Name | Forkhead Box L1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q24.1 |
| NCBI Gene ID | 2300 ncbi.nlm.nih.gov/gene/2300 |
| Ensembl ID | ENSG00000139567 |
| UniProt ID | Q12951 |
| OMIM ID | 603252 |
| HGNC ID | 3818 |
| Aliases | FREAC7, FKHL11, MGC138302 |
Description
FOXL1 (Forkhead Box L1) is a member of the forkhead family of transcription factors, characterized by a conserved DNA-binding forkhead domain. It plays a critical role in the development and maintenance of the gastrointestinal tract, particularly in the stomach and intestine. FOXL1 regulates cell proliferation, differentiation, and epithelial-mesenchymal interactions. Aberrant expression and mutations have been implicated in gastric and colorectal cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gastric Cancer | FOXL1 downregulation or loss of function disrupts normal gastric epithelial differentiation, promoting tumorigenesis. | PMID: 23431137 |
| Colorectal Cancer | Reduced FOXL1 expression correlates with poor prognosis and may contribute to tumor progression via altered Wnt signaling. | PMID: 25652263 |
| Barrett's Esophagus | FOXL1 is involved in esophageal epithelial differentiation; altered expression may predispose to metaplasia. | PMID: 21804563 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Stomach | 12.5 | Medium |
| Duodenum | 8.3 | Medium |
| Small Intestine | 7.1 | Medium |
| Colon | 6.8 | Medium |
| Esophagus | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| AGS (gastric adenocarcinoma) | 10.2 | Moderate expression |
| HT-29 (colorectal adenocarcinoma) | 7.5 | Moderate expression |
| HCT 116 (colorectal carcinoma) | 6.1 | Low expression |
| MKN45 (gastric carcinoma) | 9.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.427C>T (p.Arg143Trp) | Missense | <0.1% | Alters DNA-binding affinity; potential loss of function |
| c.502G>A (p.Gly168Arg) | Missense | <0.1% | May affect protein stability; unknown significance |
| c.631_632del (p.Leu211fs) | Frameshift | <0.1% | Predicted loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations in the forkhead domain likely impair DNA binding and transcriptional activity, leading to reduced FOXL1 function.
Gain of Function (GOF)
No gain-of-function mutations reported in FOXL1.
Dominant Negative (DN)
No dominant-negative mutations reported in FOXL1.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • sequence-specific DNA binding |
| • regulation of transcription by RNA polymerase II | • cell differentiation |
| • gastrointestinal tract development |
Pathways
• Wnt signaling pathway
• Epithelial-to-mesenchymal transition
• Gastric cancer signaling
Protein Summary
FOXL1 is a 361-amino acid transcription factor containing a forkhead DNA-binding domain. It localizes to the nucleus and regulates target genes involved in cell cycle control and differentiation. The protein is predominantly expressed in the gastrointestinal tract and is essential for maintaining epithelial homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FOXL1 Knockout HEK293 Cell Line | EDJ-KQ4618 | Human | 2300 | Details Get a Quote |
| FOXL1 Knockout HeLa Cell Line | EDJ-KQ27289 | Human | 2300 | Details Get a Quote |
| FOXL1 Knockout A-549 Cell Line | EDJ-KQ61724 | Human | 2300 | Details Get a Quote |
| FOXL1 Knockout HCT 116 Cell Line | EDJ-KQ70209 | Human | 2300 | Details Get a Quote |
