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26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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FLII
FLII actin remodeling protein
Chromosome 17 Β· 17p11.2
NCBI Gene: 2314Ensembl: ENSG00000177731.17HGNC: HGNC:3750UniProt: Q13045
194PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
actin bindingprotein bindingactin filament bindingactin polymerization or depolymerizationcardiomyopathy, dilated, 2jAbnormality of the skeletal systemdilated cardiomyopathyneurodegenerative disease
✦AI Summary

FLII (Flightless I actin remodeling protein) is a multifunctional actin-binding protein with critical roles in cardiac and cellular homeostasis. Structurally, FLII contains a gelsolin-like actin-binding domain and leucine-rich repeat protein-interaction domains 1, enabling it to regulate actin polymerization and filament organization. Primary cardiac function: FLII associates with tropomodulin-1 to regulate sarcomeric thin filament length 2. The R1243H missense variant impairs this interaction, causing actin thin filament shortening and predisposing to dilated cardiomyopathy 2. Molecular mechanisms: Beyond muscle, FLII acts as a transcriptional coactivator that is sequestered by DGCR8 in naive pluripotent stem cells 3. During differentiation, phosphorylation releases FLII to bind JUN and activate cell migration genes 3. FLII also inhibits the NLRP1 inflammasome in hematopoietic cells, regulating the balance between neutrophil and erythroid differentiation 4. Additionally, FLII suppresses caspase-1 activity on endosomes by interacting with Rubicon in a calcium-dependent manner 5. Clinical significance: FLII elevation impairs wound healing 6, while FLII mutations cause cardiomyopathy, a major cause of heart failure 2. Understanding FLII regulation offers therapeutic targets for cardiac and inflammatory diseases.

Sources cited
1
FLII binds sarcomeric actin thin filaments via association with tropomodulin-1; R1243H variant causes thin filament shortening and cardiomyopathy
PMID: 37126682
2
FLII contains gelsolin-like actin-binding domain and leucine-rich repeat protein-interaction domains; most highly expressed in muscle
PMID: 9177775
3
DGCR8 sequesters FLII in naive pluripotent stem cells; ERK/RSK/P70S6K pathway phosphorylates FLII to release it for JUN binding and cell migration gene activation
PMID: 38955180
4
FLII inhibits NLRP1 inflammasome independently of DPP9 and regulates hematopoiesis
PMID: 37675820
5
FLII interacts with caspase-1 on endosomes; Rubicon disrupts this inhibitory association to promote inflammasome activation
PMID: 37225719
6
Elevated FLII in chronic wounds impairs fibroblast proliferation; FLII-neutralizing antibodies improve wound healing outcomes
PMID: 23178274
Disease Associationsβ“˜21
cardiomyopathy, dilated, 2jOpen Targets
0.52Moderate
Abnormality of the skeletal systemOpen Targets
0.33Weak
dilated cardiomyopathyOpen Targets
0.32Weak
neurodegenerative diseaseOpen Targets
0.29Weak
Marfan syndromeOpen Targets
0.12Weak
Flexion contractureOpen Targets
0.11Weak
myopiaOpen Targets
0.11Weak
pathological myopiaOpen Targets
0.11Weak
Ewing sarcomaOpen Targets
0.10Weak
neoplasmOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.08Suggestive
squamous cell carcinomaOpen Targets
0.08Suggestive
colitisOpen Targets
0.07Suggestive
attention deficit hyperactivity disorderOpen Targets
0.05Suggestive
SepsisOpen Targets
0.05Suggestive
skin squamous cell carcinomaOpen Targets
0.05Suggestive
substance abuseOpen Targets
0.04Suggestive
ulcerative colitisOpen Targets
0.04Suggestive
colorectal carcinomaOpen Targets
0.03Suggestive
cardiomyopathyOpen Targets
0.03Suggestive
Cardiomyopathy, dilated, 2JUniProt
Pathogenic Variants3
NM_002018.4(FLII):c.3718C>T (p.Arg1240Cys)Likely pathogenic
Primary dilated cardiomyopathy|Cardiomyopathy, dilated, 2j
β˜…β˜†β˜†β˜†2021β†’ Residue 1240
NM_002018.4(FLII):c.1360C>T (p.Gln454Ter)Pathogenic
Cardiomyopathy, dilated, 2j
β˜†β˜†β˜†β˜†2023β†’ Residue 454
NM_002018.4(FLII):c.3502C>T (p.Arg1168Trp)Pathogenic
Cardiomyopathy, dilated, 2j
β˜†β˜†β˜†β˜†2023β†’ Residue 1168
View on ClinVar β†—
Related Genes
LRRFIP2Protein interaction99%EWSR1Protein interaction90%LRRFIP1Protein interaction85%LLGL1Protein interaction84%MYD88Protein interaction81%ACTL6AProtein interaction79%
Tissue Expression6 tissues
Lung
100%
Heart
64%
Ovary
52%
Liver
41%
Bone Marrow
34%
Brain
20%
Gene Interaction Network
Click a node to explore
FLIILRRFIP2EWSR1LRRFIP1LLGL1MYD88ACTL6A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q13045
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.75LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.63 [0.54–0.75]
RankingsWhere FLII stands among ~20K protein-coding genes
  • #2,199of 20,598
    Most Researched194 Β· top quartile
  • #3,940of 5,498
    Most Pathogenic Variants3
  • #5,919of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedFLII
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
A human FLII gene variant alters sarcomeric actin thin filament length and predisposes to cardiomyopathy.
PMID: 37126682
Proc Natl Acad Sci U S A Β· 2023
1.00
2
TRIM8 modulates the EWS/FLI oncoprotein to promote survival in Ewing sarcoma.
PMID: 34329586
Cancer Cell Β· 2021
0.90
3
A ZFYVE21-Rubicon-RNF34 signaling complex promotes endosome-associated inflammasome activity in endothelial cells.
PMID: 37225719
Nat Commun Β· 2023
0.80
4
Systematic review of molecular pathways in burn wound healing.
PMID: 37821280
Burns Β· 2023
0.72
5
Immunohistochemical expression of endothelial markers CD31, CD34, von Willebrand factor, and Fli-1 in normal human tissues.
PMID: 16234507
J Histochem Cytochem Β· 2006
0.70