TRPV4 transient receptor potential cation channel subfamily V member 4 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 59341)
Source: NCBI Gene (ID 59341)
Symbol: TRPV4
Full name: transient receptor potential cation channel subfamily V member 4
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: BCYM3; CMT2C; HMSN2C; OTRPC4; SMAL; SPSMA; SSQTL1; TRP12; VRL2; VROAC
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]
Expression: Broad expression in kidney (RPKM 5.7), salivary gland (RPKM 3.0) and 14 other tissues
Orthologs: mouse
Gene size: 50312bp
Exon count: 18