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.

OMIMResearchSummary from RefSeq, UniProt
Clinical SummaryFIGNL2
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ClinVar Variants
8 unique Pathogenic / Likely Pathogenic· 15 VUS of 25 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

25 submitted variants in ClinVar

Classification Summary

Pathogenic7
Likely Pathogenic1
VUS15
7
Pathogenic
1
Likely Pathogenic
15
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
7
0
7
Likely Pathogenic
0
0
1
0
1
VUS
0
12
3
0
15
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total01211023

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

View in ClinVar →

Protein Context — Lollipop Plot

FIGNL2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC