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FLII

Chr 17p11.2

FLII actin remodeling protein

Aliases:
FLI, FLIL, Fli1, MGC39265
MANE:
ENST00000327031.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Paediatric or syndromic cardiomyopathy

    BIALLELIC, autosomal or pseudoautosomal
  • Dilated and arrhythmogenic cardiomyopathy

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • cardiomyopathy, dilated, 2j

    0.60
  • Abnormality of the skeletal system

    0.36
  • dilated cardiomyopathy

    0.31
  • neurodegenerative disease

    0.29
  • Marfan syndrome

    0.12
  • Ewing sarcoma

    0.11
  • myopia

    0.11
  • Flexion contracture

    0.11
  • pathological myopia

    0.11
  • neoplasm

    0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein flightless-1 homolog

Is a regulator of actin polymerization, required for proper myofibril organization and regulation of the length of sarcomeric thin filaments (By similarity). It also plays a role in the assembly of cardiomyocyte cell adhesion complexes (By similarity). Regulates cytoskeletal rearrangements involved in cytokinesis and cell migration, by inhibiting Rac1-dependent paxillin phosphorylation (By similarity). May play a role as coactivator in transcriptional activation by hormone-activated nuclear receptors (NR) and acts in cooperation with NCOA2 and CARM1 (PubMed:14966289). Involved in estrogen hormone signaling

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.