NODAL

nodal growth differentiation factor

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000156574
UniProt:
Q96S42
OMIM:
601265

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

References: PMID:38605286, PMID:19064609

Subcellular localization

No ciliary localization reported (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).