TRPV4 Human Protein

TRPV4: a non-selective calcium permeant cation channel probably involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification. Also activated by low pH, citrate and phorbol esters. Increase of intracellular Ca(2+) potentiates currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback mechanism. Promotes cell-cell junction formation in skin keratinocytes and plays an important role in the formation and/or maintenance of functional intercellular barriers. Acts as a regulator of intracellular Ca(2+) in synoviocytes. Plays an obligatory role as a molecular component in the nonselective cation channel activation induced by 4-alpha-phorbol 12,13-didecanoate and hypotonic stimulation in synoviocytes and also regulates production of IL-8. Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV4 sub-subfamily. 6 isoforms of the human protein are produced by alternative splicing.

Protein type: Channel, cation; Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 12q24.1

Cellular Component: cortical actin cytoskeleton; cell surface; focal adhesion; growth cone; adherens junction; lamellipodium; cytoplasmic microtubule; plasma membrane; integral to membrane; cytoplasmic vesicle; filopodium; cilium

Molecular Function: calcium channel activity; microtubule binding; beta-tubulin binding; actin binding; protein kinase binding; calmodulin binding; actin filament binding; protein binding; protein kinase C binding; osmosensor activity; SH2 domain binding; cation channel activity; alpha-tubulin binding; ATP binding

Biological Process: intercellular junction assembly; actin filament organization; regulation of response to osmotic stress; osmosensory signaling pathway; cellular calcium ion homeostasis; vasopressin secretion; positive regulation of microtubule depolymerization; elevation of cytosolic calcium ion concentration; hyperosmotic salinity response; response to mechanical stimulus; calcium ion transport; actin cytoskeleton reorganization; cell volume homeostasis; cortical microtubule organization and biogenesis; transmembrane transport; microtubule polymerization

Disease: Brachyolmia Type 3; Scapuloperoneal Spinal Muscular Atrophy; Hereditary Motor And Sensory Neuropathy, Type Iic; Sodium Serum Level Quantitative Trait Locus 1; Spondyloepiphyseal Dysplasia, Maroteaux Type; Parastremmatic Dwarfism; Spinal Muscular Atrophy, Distal, Congenital Nonprogressive; Digital Arthropathy-brachydactyly, Familial; Metatropic Dysplasia; Spondylometaphyseal Dysplasia, Kozlowski Type