FIGNL2

Chr 12

fidgetin like 2

NCBI Gene: 401720 ENSG00000261308 UniProt: A6NMB9 OMIM: 620503

The FIGNL2 protein functions as a microtubule-severing enzyme that hydrolyzes ATP to cut microtubules at the cell leading edge, thereby negatively regulating cell migration and axon regeneration. Based on the provided information, no specific diseases or inheritance patterns associated with FIGNL2 mutations have been established. The pathogenic mechanism would likely involve disrupted microtubule dynamics affecting cellular motility and potentially neuronal development.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable ATP hydrolysis activity and microtubule severing ATPase activity. Involved in microtubule severing and negative regulation of cell migration. Located in cell leading edge. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Clinical Summary— FIGNL2

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ClinVar Variants

12 VUS of 14 total submissions

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

14 submitted variants in ClinVar

ClinVar

Classification Summary

VUS12

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	12	12
Likely Benign	0	0
Benign	0	0
Total	12	12

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

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8 pathogenic / likely-pathogenic (of 11) ClinVar copy-number / structural variants overlap FIGNL2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →