TRPV4, Official Symbol TRPV4provided by HGNC Official Full Name transient receptor potential cation channel subfamily V member 4provided by HGNC Primary source HGNC:HGNC:18083 See related Ensembl:ENSG00000111199 MIM:605427; AllianceGenome:HGNC:18083 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SMAL; VRL2; BCYM3; CMT2C; SPSMA; TRP12; VROAC; HMSN2C; OTRPC4; SSQTL1 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 See more Orthologs mouse all