TRPV4

Transient receptor potential cation channel subfamily V member 4 is a is_associated_with::protein that in humans is encoded by the TRPV4 is_associated_with::gene.

This gene encodes TRPV4, a member of the OSM9-like is_associated_with::transient receptor potential channel (OTRPC) subfamily in the is_associated_with::transient receptor potential (TRP) superfamily of is_associated_with::ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic is_associated_with::osmotic pressure. Two transcript variants encoding different isoforms have been found for this gene.

Clinical significance
is_associated_with::Mutations in the TRPV4 gene are associated with a range of disorders, including is_associated_with::brachyolmia type 3, is_associated_with::congenital distal spinal muscular atrophy, is_associated_with::scapuloperoneal spinal muscular atrophy and subtype 2C of is_associated_with::Charcot–Marie–Tooth disease.

Pharmacology
A number of TRPV4 agonists and antagonists have been identified in the past ten years. The discovery of unselective modulators (e.g. antagonist Ruthenium Red) was followed by the apparition of more potent (agonist 4aPDD) or selective (antagonist RN-1734) compounds, including some with bioavailability suitable for in vivo pharmacology studies such as agonist GSK1016790A (with ~10 fold selectivity vs TRPV1) and antagonist HC-067047 (with ~5 fold selectivity vs hERG and ~10 fold selectivity vs TRPM8).

Interactions
TRPV4 has been shown to interact with is_associated_with::MAP7 and is_associated_with::LYN.