FLNA

filamin A

Ensembl:
ENSG00000196924
UniProt:
P21333
OMIM:
300017
Synonyms:
ABP-280, FLN, FLN1, OPD1, OPD2

Cilia effects upon perturbation of FLNA

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia /Failure of ciliogenesis

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Subcellular localization

cilia associated gene, cytosol, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • T cell biology
  • Viral interactions
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cardiac & muscle development
  • Muscle contraction & physiology
  • Transcription regulation

Function

Role in the normal processes of ciliogenesis and basal body positioning. Interacts with meckelin to regulate levels of Wnt sig lling. Knockdown causes a failure in ciliogenesis and aberrant migration of the centriole pair to the apical cell surface suggestion FL is essential in mediating basal body migration and docking at the apical cell surface ( 22121117, 28973524).

Model organism evidence

Mus musculus (1 reference)

Skeletal disorders include aggrecanopathies, channelopathies, ciliopathies, cohesinopathies, laminopathies, linkeropathies, lysosomal storage diseases, protein-folding and RNA splicing defects, and ribosomopathies.

PMIDs: 32117046