NODAL

nodal growth differentiation factor

Ensembl:
ENSG00000156574
UniProt:
Q96S42
OMIM:
601265

Cilia effects upon perturbation of NODAL

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.92) 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:
decreased locomotor activity, increased grip strength, increased circulating triglyceride level, embryonic lethality prior to tooth bud stage, increased circulating cholesterol level, increased circulating hdl cholesterol level, preweaning lethality, complete penetrance, cornea vascularization, abnormal startle reflex
Human ciliopathy phenotype:
heterotaxy, visceral, 5, autosomal; visceral heterotaxy

Ciliopathy associations

  • Visceral Heterotaxy / Situs Inversus

Subcellular localization

cilia associated gene

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Transcription regulation

Function

Mutations in the NODAL gene cause Visceral Heterotaxy (PMID: 19064609).

Model organism evidence

Mus musculus (3 references)

Cfap298 is a highly conserved gene required for ciliary motility and dynein arm assembly, with known roles in left-right (LR) patterning in zebrafish and links to human ciliopathies.

Mammalian motile cilia: Structure, formation, organization, and function.

PMIDs: 40955177, 40916273, 40463022

Danio rerio (2 references)

Cfap298 is a highly conserved gene required for ciliary motility and dynein arm assembly, with known roles in left-right (LR) patterning in zebrafish and links to human ciliopathies.

It plays a known role in Left-Right (LR) patterning in zebrafish and is linked to human ciliopathies.

PMIDs: 40955177, 40463022