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FLASH GENE

Symbol

TRPV4

contributors: mct/ - updated : 09-10-2017

HGNC name	transient receptor potential cation channel, subfamily V, member 4
HGNC id	18083

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

BCYM3 , SMDK , METTD , CMT2C , SPSMA , CBSMA , PSMQ2 , FDAB

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

ANIMAL & CELL MODELS

	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