FLII Gene - Flightless I Actin Binding Protein
Comprehensive genomic and functional analysis of FLII, a gelsolin family actin-binding protein involved in cytoskeletal regulation, development, and disease.
Gene Information Card
| Symbol | FLII |
|---|---|
| Full Name | Flightless I Actin Binding Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 2314 ncbi.nlm.nih.gov/gene/2314 |
| Ensembl ID | ENSG00000108557 |
| UniProt ID | Q13045 |
| OMIM ID | 601937 |
| HGNC ID | 3750 |
| Aliases | FLI, FLI1, FLI-1, FLII, flightless I homolog (Drosophila) |
Description
FLII encodes flightless I, a member of the gelsolin family of actin-binding proteins. It contains a gelsolin-like domain and leucine-rich repeats, playing roles in cytoskeletal organization, cell motility, and transcriptional regulation. The gene is involved in development, wound healing, and has been implicated in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | FLII overexpression promotes cell migration and invasion via actin remodeling | PMID: 23454898; COSMIC |
| Breast cancer | FLII upregulation correlates with poor prognosis and metastasis | PMID: 25609832; COSMIC |
| Intellectual disability | De novo missense variants in FLII associated with neurodevelopmental phenotypes | PMID: 31036916; ClinVar |
| Wound healing defects | FLII knockout mice show impaired fibroblast migration and delayed wound closure | PMID: 15601839; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Testis | 9.2 | Medium |
| Brain | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer |
| A549 | 13.8 | Lung cancer |
| MCF7 | 11.5 | Breast cancer |
| HEK293 | 9.0 | Embryonic kidney |
| HepG2 | 7.3 | Liver cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Alters actin binding; associated with intellectual disability (ClinVar) |
| c.789_790insA | Frameshift | <0.001% | Loss of function; reported in COSMIC (colorectal) |
| c.1567G>A (p.Glu523Lys) | Missense | 0.002% | Unknown significance; COSMIC |
| c.2045T>C (p.Leu682Pro) | Missense | <0.001% | Potential dominant negative effect; ClinVar |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants in FLII lead to truncated protein, reducing actin-binding and cellular motility.
Gain of Function (GOF)
Missense variants in the gelsolin domain may enhance actin severing activity, contributing to cancer cell invasiveness.
Dominant Negative (DN)
Certain missense mutations (e.g., p.Leu682Pro) may disrupt protein-protein interactions, interfering with wild-type FLII function.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • actin filament severing |
| • cytoskeleton organization | • cell migration |
| • wound healing | • transcription regulation |
Pathways
• Actin cytoskeleton regulation
• Focal adhesion
• Wnt signaling (via β-catenin interaction)
Protein Summary
Flightless I (FLII) is a 1269-amino acid protein with an N-terminal leucine-rich repeat domain and a C-terminal gelsolin-like domain. It binds actin monomers and filaments, regulates actin dynamics, and shuttles between cytoplasm and nucleus. FLII interacts with transcription factors (e.g., β-catenin) and is involved in cell adhesion, migration, and development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FLII Knockout HEK293 Cell Line | EDJ-KQ4610 | Human | 2314 | Details Get a Quote |
| FLII Knockout A-549 Cell Line | EDJ-KQ26034 | Human | 2314 | Details Get a Quote |
| FLII Knockout HCT 116 Cell Line | EDJ-KQ27282 | Human | 2314 | Details Get a Quote |
| FLII Knockout HeLa Cell Line | EDJ-KQ27283 | Human | 2314 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
