FIGNL2 Gene: Fidgetin-Like 2
A microtubule-severing AAA ATPase involved in cell division and genomic stability
Gene Information Card
| Symbol | FIGNL2 |
|---|---|
| Full Name | Fidgetin-Like 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 126792 ncbi.nlm.nih.gov/gene/126792 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q5VZQ6 |
| OMIM ID | 617420 |
| HGNC ID | 25923 |
| Aliases | FLJ20366, MGC138290 |
Description
FIGNL2 (Fidgetin-Like 2) encodes a member of the AAA ATPase family that functions as a microtubule-severing enzyme. It is involved in regulating microtubule dynamics during cell division and maintaining genomic stability. The protein localizes to centrosomes and spindle poles, and its activity is critical for proper chromosome segregation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly | Disruption of microtubule dynamics leads to impaired neurogenesis and reduced brain size | PMID: 28494990 |
| Cancer (various) | Altered expression may contribute to aneuploidy and tumorigenesis | COSMIC database |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Not detected |
| Heart | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Moderate expression |
| HEK293 | 10.7 | Low expression |
| K562 | 8.9 | Low expression |
| A549 | 6.4 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338*) | Nonsense | <0.01% | Loss of function; associated with microcephaly |
| c.1543G>A (p.Gly515Arg) | Missense | <0.01% | Unknown; predicted damaging |
| c.2017_2018insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing microtubule severing activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data:
Gene Ontology (GO)
| • ATP binding (GO:0005524) | • microtubule severing ATPase activity (GO:0008568) |
| • centrosome (GO:0005813) | • microtubule (GO:0005874) |
| • chromosome segregation (GO:0007059) | • cell division (GO:0051301) |
Pathways
• Microtubule dynamics
• Cell cycle
• mitotic
Protein Summary
FIGNL2 is a 787-amino acid protein containing an AAA ATPase domain. It forms hexameric rings that use ATP hydrolysis to sever microtubules, regulating spindle length and chromosome movement during mitosis. The protein is highly expressed in testis and brain, consistent with roles in spermatogenesis and neurogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FIGNL2 Knockout HEK293 Cell Line | EDJ-KQ11656 | Human | 401720 | 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 |
| FIGNL2 Knockout HCT 116 Cell Line | EDJ-KQ77144 | Human | 401720 | Details Get a Quote |