TRPV4 Back

transient receptor potential cation channel, subfamily V, member 4

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NCBI Description of TRPV4

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.

Community Annotation of TRPV4 Add / Edit TRPV4: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

TRPV4 is highly significantly mutated in
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TRPV4 is significantly mutated in
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TRPV4 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for TRPV4