transient receptor potential cation channel subfamily V member 4
Last updated 4 May 2023
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The TRPV4 gene provides instructions for making a protein that acts as a calcium channel. This channel, which transports positively charged atoms of calcium (calcium ions) across cell membranes, is found in many types of cells and tissues. Studies suggest that the TRPV4 channel plays a role in a number of different functions in the body. These include the development of bones and cartilage, the tough but flexible tissue that makes up much of the skeleton during early development. It is also be involved in maintaining the body's water balance (osmoregulation) and in certain types of sensation, particularly the sensation of pain. The TRPV4 channel may also play a role in the self-destruction of cells (apoptosis). It likely has additional functions that have not been identified.
Normal function
The TRPV4 gene provides instructions for making a protein that acts as a calcium channel. This channel, which transports positively charged atoms of calcium (calcium ions) across cell membranes, is found in many types of cells and tissues. Studies suggest that the TRPV4 channel plays a role in a number of different functions in the body. These include the development of bones and cartilage, the tough but flexible tissue that makes up much of the skeleton during early development. It is also be involved in maintaining the body's water balance (osmoregulation) and in certain types of sensation, particularly the sensation of pain. The TRPV4 channel may also play a role in the self-destruction of cells (apoptosis). It likely has additional functions that have not been identified.
Conditions referring to this gene or chromosome
Other names
osm-9-like TRP channel 4
OSM9-like transient receptor potential channel 4
osmosensitive transient receptor potential channel 4
OTRPC4
SPSMA
SSQTL1
transient receptor potential cation channel, subfamily V, member 4
transient receptor potential protein 12
TRP12
TRPV4_HUMAN
vanilloid receptor-like channel 2
vanilloid receptor-related osmotically activated channel
VR-OAC
VRL-2
VRL2
VROAC
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Further reading and references
- transient receptor potential cation channel subfamily V member 4; MedlinePlus, National Library of Medicine.
- Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter W, Kannu P, Kerr B, McGillivray G, McKinlay Gardner RJ, Patricelli MG, Sillence D, Thompson E, Zacharin M, Zankl A, Lamande SR, Savarirayan R. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. Orphanet J Rare Dis. 2011 Jun 9;6:37. doi: 10.1186/1750-1172-6-37.
- Auer-Grumbach M, Olschewski A, Papic L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Frohlich E, Balint Z, Tang B, Strohmaier H, Lochmuller H, Schlotter-Weigel B, Senderek J, Krebs A, Dick KJ, Petty R, Longman C, Anderson NE, Padberg GW, Schelhaas HJ, van Ravenswaaij-Arts CM, Pieber TR, Crosby AH, Guelly C. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet. 2010 Feb;42(2):160-4. doi: 10.1038/ng.508. Epub 2009 Dec 27.
- Biasini F, Portaro S, Mazzeo A, Vita G, Fabrizi GM, Taioli F, Toscano A, Rodolico C. TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature. Neuromuscul Disord. 2016 Apr-May;26(4-5):312-5. doi: 10.1016/j.nmd.2016.02.010. Epub 2016 Feb 23.
- Camacho N, Krakow D, Johnykutty S, Katzman PJ, Pepkowitz S, Vriens J, Nilius B, Boyce BF, Cohn DH. Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. Am J Med Genet A. 2010 May;152A(5):1169-77. doi: 10.1002/ajmg.a.33392.
- Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, Jansweijer MC, Hennekam RC, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. J Med Genet. 2010 Oct;47(10):704-9. doi: 10.1136/jmg.2009.075358. Epub 2010 Jun 24.
- Deng HX, Klein CJ, Yan J, Shi Y, Wu Y, Fecto F, Yau HJ, Yang Y, Zhai H, Siddique N, Hedley-Whyte ET, Delong R, Martina M, Dyck PJ, Siddique T. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nat Genet. 2010 Feb;42(2):165-9. doi: 10.1038/ng.509. Epub 2009 Dec 27.
- Garcia-Elias A, Mrkonjic S, Jung C, Pardo-Pastor C, Vicente R, Valverde MA. The TRPV4 channel. Handb Exp Pharmacol. 2014;222:293-319. doi: 10.1007/978-3-642-54215-2_12.
- Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet. 2009 Mar;84(3):307-15. doi: 10.1016/j.ajhg.2009.01.021. Epub 2009 Feb 19.
- Lamande SR, Yuan Y, Gresshoff IL, Rowley L, Belluoccio D, Kaluarachchi K, Little CB, Botzenhart E, Zerres K, Amor DJ, Cole WG, Savarirayan R, McIntyre P, Bateman JF. Mutations in TRPV4 cause an inherited arthropathy of hands and feet. Nat Genet. 2011 Oct 2;43(11):1142-6. doi: 10.1038/ng.945.
- McEntagart M. TRPV4 axonal neuropathy spectrum disorder. J Clin Neurosci. 2012 Jul;19(7):927-33. doi: 10.1016/j.jocn.2011.12.003. Epub 2012 May 20.
- Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A, Unger S. TRPV4-associated skeletal dysplasias. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):190-204. doi: 10.1002/ajmg.c.31335. Epub 2012 Jul 12.
- Tian W, Fu Y, Garcia-Elias A, Fernandez-Fernandez JM, Vicente R, Kramer PL, Klein RF, Hitzemann R, Orwoll ES, Wilmot B, McWeeney S, Valverde MA, Cohen DM. A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia. Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):14034-9. doi: 10.1073/pnas.0904084106. Epub 2009 Aug 4.
- Zhu G; ICGN Investigators; Gulsvik A, Bakke P, Ghatta S, Anderson W, Lomas DA, Silverman EK, Pillai SG. Association of TRPV4 gene polymorphisms with chronic obstructive pulmonary disease. Hum Mol Genet. 2009 Jun 1;18(11):2053-62. doi: 10.1093/hmg/ddp111. Epub 2009 Mar 11.
- Zimon M, Baets J, Auer-Grumbach M, Berciano J, Garcia A, Lopez-Laso E, Merlini L, Hilton-Jones D, McEntagart M, Crosby AH, Barisic N, Boltshauser E, Shaw CE, Landoure G, Ludlow CL, Gaudet R, Houlden H, Reilly MM, Fischbeck KH, Sumner CJ, Timmerman V, Jordanova A, Jonghe PD. Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain. 2010 Jun;133(Pt 6):1798-809. doi: 10.1093/brain/awq109. Epub 2010 May 11.
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