| TRPV4 |
| LOCUS ID | 59341 | |||||||||||||
| GENE_SYMBOL | TRPV4 | |||||||||||||
| GENE NAME | transient receptor p | |||||||||||||
| SYNONYMNS | SMAL, VRL2, BCYM3, CMT2C, SPSMA, TRP12, VROAC, HMSN2C, OTRPC4, SSQTL1 | |||||||||||||
| CHROMOSOME | 12 | |||||||||||||
| HOMOLOGENE ID | 11003 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| 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 diffe |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Nephropathy | 1. 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 |
| Insulin resistance and inflammation | 1. TRPV4 negatively regulated the expression of PGC1?, UCP1, and cellular respiration. Additionally, it potently controlled the expression of multiple proinflammatory genes involved in the development of insulin resistance. | 23021218 |