FLII
Chr 17ARFLII actin remodeling protein
Also known as: CMD2J, FLI, FLIL, Fli1
FLII encodes a protein that regulates actin polymerization and is required for proper myofibril organization and sarcomeric thin filament length regulation in cardiac muscle. Mutations cause autosomal recessive dilated cardiomyopathy (type 2J). The gene is highly constrained against loss-of-function variants (LOEUF 0.607), suggesting complete loss of protein function is likely pathogenic.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FLII · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools