Transient Receptor Potential Cation Channel, Subfamily V, Member 4 (TRPV4) Antibody – Rabbit Polyclonal

This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]

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, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 12q24.1

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

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

Biological Process: intercellular junction assembly; actin filament organization; regulation of response to osmotic stress; osmosensory signaling pathway; cellular calcium ion homeostasis; vasopressin secretion; elevation of cytosolic calcium ion concentration; positive regulation of microtubule depolymerization; 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; Spondyloepiphyseal Dysplasia, Maroteaux Type; Sodium Serum Level Quantitative Trait Locus 1; Parastremmatic Dwarfism; Spinal Muscular Atrophy, Distal, Congenital Nonprogressive; Digital Arthropathy-brachydactyly, Familial; Spondylometaphyseal Dysplasia, Kozlowski Type; Metatropic Dysplasia