TRPV4
LOCUS ID59341
GENE_SYMBOLTRPV4
GENE NAMEtransient receptor potential cation channel, subfamily V, member 4
SYNONYMNSSMAL, VRL2, BCYM3, CMT2C, SPSMA, TRP12, VROAC, HMSN2C, OTRPC4, SSQTL1
CHROMOSOME12
HOMOLOGENE ID11003
microRNAsNANA
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]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Our data confirm expression of Ca2+-dependent TRPV4 channels in HCD cells and suggest that a loss of expression in response to high glucose attenuates the ability of the collecting duct to exhibit regulatory volume decreases, an effect that may contribute to the pathology of fluid and electrolyte imbalance as observed in diabetic nephropathy.23049542