ARHGEF18

Rho/Rac guanine nucleotide exchange factor 18

Ensembl:
ENSG00000104880
UniProt:
Q6ZSZ5
OMIM:
616432
Synonyms:
KIAA0521, MGC15913, P114-RHOGEF, P114RHOGEF

Cilia effects upon perturbation of ARHGEF18

Overexpression effect:
Longer

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.05) 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, complete penetrance, preweaning lethality, incomplete penetrance, increased circulating amylase level
Mouse ciliopathy phenotype:
abnormal reti morphology
Human ciliopathy phenotype:
retinitis pigmentosa

Subcellular localization

basal body, cilia, cytosol

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

SEPTIN9 regulates RhoA sig ling at the base of cilia by binding and activating the RhoA guanine nucleotide exchange factor, ARHGEF18 (36912772).