TRPV4
transient receptor potential cation channel subfamily V member 4
- Ensembl:
- ENSG00000111199
- UniProt:
- Q9HBA0
- OMIM:
- 605427
- Synonyms:
- CMT2C, OTRPC4, TRP12, VR-OAC, VRL-2
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
- Mouse ciliopathy phenotype:
- abnormal liver morphology
Ciliopathy associations
- Spondylometaphyseal Dysplasia
Subcellular localization
cilia
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
- T cell biology
- 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).
Model organism evidence
Mus musculus (1 reference)
Primary cilia integrity governs TRPV4-mediated NF-κB/COL2 signaling in osteoarthritis pathogenesis.
PMIDs: 40975506