TRPV4

transient receptor potential cation channel subfamily V member 4

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000111199
UniProt:
Q9HBA0
OMIM:
605427
Synonyms:
CMT2C, OTRPC4, TRP12, VR-OAC, VRL-2, VROAC

Cilia effects upon perturbation of TRPV4

Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (4 screens)

  • Kim2016: No effect
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.17) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (robust z=2.50, ciliated=56.8%) PMID:26595381

Phenotypes

Mouse phenotype:
increased circulating glucose level, abnormal coat/hair pigmentation, abnormal skin coloration, abnormal gallbladder morphology, small liver, small gallbladder

Ciliopathy associations

  • Spondylometaphyseal Dysplasia

References: PMID:19232556, PMID:31191204, PMID:22791502, PMID:24830047, PMID:38721578, PMID:20505684

Subcellular localization

cilia

References: PMID:15858826, PMID:29491434

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cardiac & muscle development
  • Muscle contraction & physiology
  • ECM & connective tissue

Function

Mediates Ca2+ influx in response to mechanical and osmotic stimuli in ciliated epithelia, which in turns regulates the ciliary beat frequency (18719094). Mediates oscillatory fluid shear mechanotransduction in various cells via the primary cilium (29491434).