ACTN4

actinin alpha 4

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000282844
UniProt:
O43707
OMIM:
604638
Synonyms:
FSGS1

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-7.22) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
preweaning lethality, incomplete penetrance, hypertrophic tissue, hyperplasia

Subcellular localization

cilia, nucleus, transition zone

References: PMID:41005307

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cardiac & muscle development
  • Transition zone
  • Transcription regulation

Function

ACTN4 has localized in transition zone, primary cilia.