| Symbol
| TRPV4
| contributors: mct/ - updated : 09-10-2017
|
| HGNC name
| transient receptor potential cation channel, subfamily V, member 4
|
| HGNC id
| 18083
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
| germinal mutation
|
|
| gain of function
|
gain-of-function (GOF) mutations were found to cause autosomal dominant blockage of bone development  | |
| Susceptibility
|
to chronic obstructive pulmonary disease (COPD) to hyponatremia |
| Variant & Polymorphism
other
| polymorphisms in the TRPV4 gene are associated with COPD |
|
nonsynonymous polymorphismis associated with hyponatremia |
| 
|
Candidate gene
Marker
Therapy target
|
|
| System | Type | Disorder | Pubmed |
|---|
| miscelleaneous | pain | | |
| selectively disrupting the folding-sensitive region may present therapeutic potential for treating overactive TRPV4-mediated diseases, such as pain | | osteoarticular | bone | | |
| selectively disrupting the folding-sensitive region may present therapeutic potential for treating overactive TRPV4-mediated diseases, such as skeletal dysplasias | | dermatology | skin | | |
| . possibility that manipulating TRPV4 function would be useful to improve skin barrier function, especially where the cornified layer-dependent barrier is damaged | | diabete | type 2 | | |
| TRPV4 is a very promising target for treating obesity and type 2 diabetes |
| | | |
|
| TRPV4-deficient mice displayed impairment of the intercellular junction-dependent barrier function in the skin | |
chondrocytes from Trpv4-null mice do not respond to hypo-osmotic stress suggesting that the mechanosensory role of TRPV4 is important in articular cartilage |
|
pharmacological inhibition of Trpv4 in mice modulate both thermogenic and proinflammatory pathways in fat, resulting in a robust resistance to obesity and insulin resistance |