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Transient Receptor Potential Cation Channel Subfamily V, Member 4 (TRPV4)

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OTRPC4; TRP12; VR-OAC; VRL2; VROAC; Osm-9-like TRP channel 4; Transient receptor potential protein 12; Vanilloid receptor-related osmotically-activated channel

Transient Receptor Potential Cation Channel Subfamily V, Member 4 (TRPV4)
CCC F849
HGNC 18083
MGI 1926945
PubMed 11025659
RGD 69337
UniProt Q9HBA0
Wiki TRPV4
TRPV4, 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. Two transcript variants encoding different isoforms have been found for this gene.VROAC is a cation-selective channel that is gated by exposure to hypotonicity within the physiologic range. In situ hybridization showed that in the central nervous system, VROAC is expressed in neurons of the circumventricular organs, neurosensory cells responsive to systemic osmotic pressure. VROAC was also expressed in other neurosensory cells, including inner-ear hair cells, sensory neurons, and Merkel cells.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Transient Receptor Potential Cation Channel Subfamily V, Member 4 (TRPV4) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Transient Receptor Potential Cation Channel Subfamily V, Member 4 (TRPV4) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Transient Receptor Potential Cation Channel Subfamily V, Member 4 (TRPV4) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Transient Receptor Potential Cation Channel Subfamily V, Member 4 (TRPV4) CLIA Kit Customized Service Offer
n/a ELISA Kit for Transient Receptor Potential Cation Channel Subfamily V, Member 4 (TRPV4) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Transient Receptor Potential Cation Channel Subfamily V, Member 4 (TRPV4) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Transient Receptor Potential Cation Channel Subfamily V, Member 4 (TRPV4) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Transient Receptor Potential Cation Channel Subfamily V, Member 4 (TRPV4) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Transient Receptor Potential Cation Channel Subfamily V, Member 4 (TRPV4) CLIA Kit Customized Service Offer
n/a ELISA Kit for Transient Receptor Potential Cation Channel Subfamily V, Member 4 (TRPV4) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Transient Receptor Potential Cation Channel Subfamily V, Member 4 (TRPV4) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Transient Receptor Potential Cation Channel Subfamily V, Member 4 (TRPV4) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Transient Receptor Potential Cation Channel Subfamily V, Member 4 (TRPV4) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Transient Receptor Potential Cation Channel Subfamily V, Member 4 (TRPV4) CLIA Kit Customized Service Offer
n/a ELISA Kit for Transient Receptor Potential Cation Channel Subfamily V, Member 4 (TRPV4) ELISA Kit Customized Service Offer
  1. "Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptor."Cell 103:525-535(2000) [PubMed] [Europe PMC] [Abstract]
  2. "OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarity."Nat. Cell Biol. 2:695-702(2000) [PubMed] [Europe PMC] [Abstract]
  3. "Impaired pressure sensation in mice lacking TRPV4."J. Biol. Chem. 278:22664-22668(2003) [PubMed] [Europe PMC] [Abstract]
  4. "Human TRPV4 channel splice variants revealed a key role of ankyrin domains in multimerization and trafficking."J. Biol. Chem. 281:1580-1586(2006) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Ca2+-dependent potentiation of the nonselective cation channel TRPV4 is mediated by a C-terminal calmodulin binding site."J. Biol. Chem. 278:26541-26549(2003) [PubMed] [Europe PMC] [Abstract]
  7. "An environmental sensor, TRPV4 is a novel regulator of intracellular Ca2+ in human synoviocytes."Am. J. Physiol. 297:C1082-C1090(2009) [PubMed] [Europe PMC] [Abstract]
  8. "A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia."Proc. Natl. Acad. Sci. U.S.A. 106:14034-14039(2009) [PubMed] [Europe PMC] [Abstract]
  9. "Identification of a Protein Kinase C-dependent phosphorylation site involved in sensitization of TRPV4 channel."Biochem. Biophys. Res. Commun. 391:1721-1725(2010) [PubMed] [Europe PMC] [Abstract]
  10. "Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations."Hum. Mol. Genet. 21:2166-2180(2012) [PubMed] [Europe PMC] [Abstract]
  11. "Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel."Biochemistry 51:6195-6206(2012) [PubMed] [Europe PMC] [Abstract]
  12. "Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia."Nat. Genet. 40:999-1003(2008) [PubMed] [Europe PMC] [Abstract]
  13. "Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia."Am. J. Hum. Genet. 84:307-315(2009) [PubMed] [Europe PMC] [Abstract]
  14. "Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia."Am. J. Med. Genet. A 152:1169-1177(2010) [PubMed] [Europe PMC] [Abstract]
  15. "Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations."Am. J. Med. Genet. A 152:1443-1449(2010) [PubMed] [Europe PMC] [Abstract]
  16. "Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family." J. Med. Genet. 47:704-709(2010) [PubMed] [Europe PMC] [Abstract]
  17. "Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C." Nat. Genet. 42:160-164(2010) [PubMed] [Europe PMC] [Abstract]
  18. "Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4."Nat. Genet. 42:165-169(2010) [PubMed] [Europe PMC] [Abstract]
  19. "Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C."Nat. Genet. 42:170-174(2010) [PubMed] [Europe PMC] [Abstract]
  20. "CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene."Neurology 75:1968-1975(2010) [PubMed] [Europe PMC] [Abstract]
  21. "Mutations in TRPV4 cause an inherited arthropathy of hands and feet."Nat. Genet. 43:1142-1146(2011) [PubMed] [Europe PMC] [Abstract]
  22. "TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies."Neurology 76:887-894(2011) [PubMed] [Europe PMC] [Abstract]
  23. "TRPV4 mutations in children with congenital distal spinal muscular atrophy."Neurogenetics 13:195-203(2012) [PubMed] [Europe PMC] [Abstract]