ACTN4

actinin alpha 4

Ensembl:
ENSG00000282844, ENSG00000130402
UniProt:
O43707
OMIM:
604638
Synonyms:
FSGS1

Cilia effects upon perturbation of ACTN4

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
Mouse ciliopathy phenotype:
abnormal reti morphology, increased heart weight

Subcellular localization

cilia, nucleus, transition zone

Functional category

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

Function

ACTN4 has localized in transition zone, primary cilia.

Model organism evidence

Mus musculus (1 reference)

Some genetic kidney diseases (CAKUT, ciliopathies, tubulopathies) that result in secondary forms of FSGS also h

PMIDs: 37578539