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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for TRPV4 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID59341
Official gene symbolTRPV4
Full nametransient receptor potential cation channel, subfamily V, member 4
Aliases,CMT2C,HMSN2C,OTRPC4,SPSMA,TRP12,VRL2,VROAC,
Gene summaryThis 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]
LocationChromosome: 12   Locus: 12q24.1
Gene position110271212 - 110220892  Map Viewer
Gene orientationminus
Gene size50321 bp
Gene sequence
OMIM ID605427