TRPV4

TRPV4 Gene Summary

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]

Details

Type
Protein Coding
Official Symbol
TRPV4
Official Name
transient receptor potential cation channel subfamily V member 4 [Source:HGNC Symbol;Acc:HGNC:18083]
Ensembl ID
ENSG00000111199
Bio databases IDs NCBI: 59341 Ensembl: ENSG00000111199
Aliases transient receptor potential cation channel subfamily V member 4, osmosensitive transient receptor potential channel 4
Synonyms
0610033B08Rik,BCYM3,CMT2C,HMSN2C,OTRPC4,SMAL,SPSMA,SSQTL1,transient receptor potential cation channel subfamily V member 4,transient receptor potential cation channel, subfamily V, member 4,TRP12,VRL-2,VR-OAC
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • beta-tubulin binding
  • osmosensor
  • protein kinase binding
  • calmodulin binding
  • calcium channel
  • SH2-domain binding
  • calmodulin binding domain
  • protein kinase C binding
  • Ankyrin repeats (3 copies)
  • protein binding
  • identical protein binding
  • ion channel
  • CB domain
  • Ankyrin repeat
  • actin filament binding
  • microtubule binding
  • actin binding
  • transmembrane domain
  • alpha-tubulin binding
  • transient-receptor-potential calcium channel protein
  • stretch-activated, cation-selective, calcium channel
  • Transient Receptor Potential channel, Vanilloid subfamily (TRPV)
  • cation channel

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
  • LYN
  • TRPV4
  • AQP4
  • CTNNB1
  • YES1
  • OS9
  • cannabigerol
  • GSK2798745
  • HCK
  • MAP7
disease
  • neoplasia
  • mechanical hyperalgesia
  • spondylo-epiphyseal dysplasia, Maroteaux type
  • Charcot-Marie-Tooth disease type 2C
  • obesity
  • Charcot-Marie-Tooth disease
  • familial digital arthropathy-brachydactyly
  • scapuloperoneal spinal muscle atrophy
  • metatropic dysplasia
  • congenital nonprogressive distal spinal muscular atrophy
regulated by
  • SRC (family)
  • D-glucose
  • RGFP966
  • hydrogen peroxide
  • TRPV4
  • Src
  • MAP7
  • AGT
  • P2RY1
  • GSK-1016790A
regulates
  • p38 MAPK
  • Ca2+
  • FOS
  • TNF
  • ERK
  • reactive oxygen species
  • CCL5
  • HMOX1
  • D-glucose
  • nitric oxide
role in cell
  • expression in
  • quantity
  • apoptosis
  • phosphorylation in
  • activation in
  • migration
  • proliferation
  • assembly
  • generation in
  • production in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • cortical actin cytoskeleton
  • intracellular compartment
  • cilia
  • cell surface
  • intracellular space
  • apical compartment
  • cellular membrane
  • focal adhesions
  • cell cortex
  • Endoplasmic Reticulum
  • cytosol
  • apical cell surfaces
  • basolateral cell surfaces
  • membrane ruffles
  • apical membrane
  • basolateral membrane
  • neuromuscular junctions
  • growth cone
  • cytoplasmic microtubule
  • cellular protrusions
  • filopodia
  • perikaryon
  • dendrites
  • cell-cell adherens junctions
  • lamellipodia

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the TRPV4 gene, providing context for its role in the cell.

BIOLOGICAL PROCESS

Functions and activities the gene product is involved in
  • calcium ion import
  • positive regulation of monocyte chemotactic protein-1 production
  • hyperosmotic salinity response
  • positive regulation of chemokine (C-X-C motif) ligand 1 production
  • osmosensory signaling pathway
  • actin filament organization
  • cortical microtubule organization
  • positive regulation of striated muscle contraction
  • diet induced thermogenesis
  • cell volume homeostasis
  • response to mechanical stimulus
  • negative regulation of transcription from RNA polymerase II promoter
  • cellular response to osmotic stress
  • cellular response to heat
  • response to hypoxia
  • response to insulin stimulus
  • positive regulation of chemokine (C-C motif) ligand 5 production
  • cellular hypotonic response
  • multicellular organismal water homeostasis
  • negative regulation of neuron projection development
  • calcium ion transport
  • positive regulation of macrophage chemotaxis
  • calcium ion transmembrane transport
  • cellular hypotonic salinity response
  • vasopressin secretion
  • positive regulation of microtubule depolymerization
  • cell-cell junction assembly
  • positive regulation of inflammatory response
  • cartilage development involved in endochondral bone morphogenesis
  • microtubule polymerization
  • positive regulation of vascular permeability
  • elevation of cytosolic calcium ion concentration
  • cellular calcium ion homeostasis
  • regulation of response to osmotic stress
  • positive regulation of JNK cascade
  • positive regulation of ERK1 and ERK2 cascade
  • glucose homeostasis
  • positive regulation of macrophage inflammatory protein 1 alpha production
  • positive regulation of interleukin-6 production
  • actin cytoskeleton organization

CELLULAR COMPONENT

Where in the cell the gene product is active
  • endoplasmic reticulum
  • cytoplasmic microtubule
  • plasma membrane
  • cell surface
  • growth cone
  • adherens junction
  • focal adhesion
  • membrane
  • cilium
  • ruffle membrane
  • filopodium
  • cortical actin cytoskeleton
  • apical plasma membrane
  • lamellipodium

MOLECULAR FUNCTION

What the gene product does at the molecular level
  • protein kinase C binding
  • protein kinase binding
  • identical protein binding
  • stretch-activated, cation-selective, calcium channel activity
  • calcium channel activity
  • cation channel activity
  • lipid binding
  • osmosensor activity
  • alpha-tubulin binding
  • SH2 domain binding
  • microtubule binding
  • actin filament binding
  • ATP binding
  • calmodulin binding
  • protein binding
  • actin binding
  • metal ion binding
  • beta-tubulin binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.