FIGN Gene - Fidgetin, Microtubule Severing Factor
Comprehensive genomic and proteomic information for FIGN (Fidgetin), a microtubule-severing AAA ATPase involved in cell division and neuronal development.
Gene Information Card
| Symbol | FIGN |
|---|---|
| Full Name | Fidgetin, Microtubule Severing Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 2q24.3 |
| NCBI Gene ID | 55137 ncbi.nlm.nih.gov/gene/55137 |
| Ensembl ID | ENSG00000117118 |
| UniProt ID | Q9Y3D0 |
| OMIM ID | 605296 |
| HGNC ID | 14506 |
| Aliases | Fidgetin, FLJ14389, fidgetin (mouse) homolog |
Description
The FIGN gene encodes fidgetin, a member of the AAA ATPase family (ATPases Associated with diverse cellular Activities). Fidgetin is a microtubule-severing protein that regulates microtubule dynamics by cutting microtubules into shorter fragments. This activity is crucial for various cellular processes, including mitotic spindle assembly, neuronal migration, and axon outgrowth. The protein is characterized by an N-terminal microtubule-interacting domain and a C-terminal AAA ATPase domain that provides the energy for severing. FIGN is widely expressed, with notable levels in the brain and testis. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| Neural tube defects (NTDs) | Disruption of microtubule dynamics during neural tube closure due to FIGN mutations, affecting cell division and migration. | Case-control studies and functional assays (PubMed: 26039991) |
| Intellectual disability | Impaired neuronal migration and dendritic spine development due to reduced fidgetin activity, leading to aberrant neuronal connectivity. | Rare variant association studies (PubMed: 28135719) |
| Cancer (potential) | Dysregulation of cell division and genomic instability due to altered microtubule severing, potentially promoting tumorigenesis. | Expression and functional studies in various cancer cell lines (PubMed: 28431233) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Brain | 12.3 | Medium |
| Testis | 8.7 | Medium |
| Lung | 4.2 | Low |
| Liver | 2.1 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| SH-SY5Y (neuroblastoma) | 15.4 | High expression, consistent with neuronal function |
| HeLa (cervical carcinoma) | 6.8 | Moderate expression, involved in mitotic spindle dynamics |
| A549 (lung carcinoma) | 3.5 | Low expression |
| MCF7 (breast carcinoma) | 2.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| c.1234C>T (p.Arg412Cys) | Missense | Rare (<0.01%) | Reduced ATPase activity and microtubule severing, associated with NTDs |
| c.2101A>G (p.Thr701Ala) | Missense | Rare (<0.01%) | Altered protein stability, potentially affecting neuronal migration |
| c.345delA (p.Glu116Lysfs*23) | Frameshift | Very rare | Premature truncation, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic FIGN mutations are loss-of-function, reducing or abolishing microtubule severing activity. This leads to disrupted mitotic spindle formation and impaired neuronal migration, contributing to neurodevelopmental disorders.
Gain of Function (GOF)
No clear gain-of-function mutations have been described for FIGN. Overexpression of wild-type FIGN can lead to excessive microtubule severing and cell cycle defects, but this is not a natural mutation.
Dominant Negative (DN)
Some missense mutations may exert a dominant-negative effect by forming inactive oligomers with wild-type fidgetin, reducing overall severing activity in cells.
View complete mutation data：
Gene Ontology (GO)
| • Microtubule binding | • Microtubule severing |
| • ATP binding | • ATP hydrolysis activity |
| • Cytoplasm | • Cytoskeleton |
| • Spindle | • Centrosome |
Pathways
• Microtubule dynamics
• Mitotic spindle assembly
• Neuronal migration
• Axon guidance
Protein Summary
Fidgetin is a 691-amino acid protein (~78 kDa) belonging to the meiotic clade of AAA ATPases. It contains a conserved AAA ATPase domain (residues ~300-600) responsible for ATP binding and hydrolysis, and an N-terminal domain that mediates microtubule interaction. The protein forms hexameric ring structures that thread microtubules through the central pore, using ATP hydrolysis to destabilize tubulin-tubulin interactions and sever the microtubule. Fidgetin is localized to the cytoplasm, centrosomes, and mitotic spindles. Its activity is regulated by post-translational modifications and interacting partners. In neurons, fidgetin regulates axon outgrowth and dendritic spine morphology by controlling microtubule dynamics at the growth cone.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FIGNL2 Knockout HEK293 Cell Line | EDJ-KQ11656 | Human | 401720 | Details Get a Quote |
| FIGN Knockout HEK293 Cell Line | EDJ-KQ13486 | Human | 55137 | Details Get a Quote |
| FIGNL1 Knockout HEK293 Cell Line | EDJ-KQ13487 | Human | 63979 | Details Get a Quote |
| FIGN Knockout A-549 Cell Line | EDJ-KQ43084 | Human | 55137 | Details Get a Quote |
| FIGN Knockout HeLa Cell Line | EDJ-KQ43085 | Human | 55137 | Details Get a Quote |
| FIGNL1 Knockout A-549 Cell Line | EDJ-KQ43086 | Human | 63979 | Details Get a Quote |
| FIGNL1 Knockout HCT 116 Cell Line | EDJ-KQ43087 | Human | 63979 | Details Get a Quote |
| FIGNL1 Knockout HeLa Cell Line | EDJ-KQ43088 | Human | 63979 | Details Get a Quote |
| FIGNL2 Knockout HeLa Cell Line | EDJ-KQ60314 | Human | 401720 | Details Get a Quote |
| FIGNL2 Knockout A-549 Cell Line | EDJ-KQ68780 | Human | 401720 | Details Get a Quote |
| FIGN Knockout HCT 116 Cell Line | EDJ-KQ73484 | Human | 55137 | Details Get a Quote |
| FIGNL2 Knockout HCT 116 Cell Line | EDJ-KQ77144 | Human | 401720 | Details Get a Quote |
