Aliases for TRPV4 Gene
- Transient Receptor Potential Cation Channel Subfamily V Member 4 2 3 4 5
- Osmosensitive Transient Receptor Potential Channel 4 2 3
- Transient Receptor Potential Protein 12 3 4
- Vanilloid Receptor-Like Channel 2 3 4
- Osm-9-Like TRP Channel 4 3 4
- OTRPC4 3 4
- TRP12 3 4
- VROAC 3 4
- VRL2 3 4
- Transient Receptor Potential Cation Channel, Subfamily V, Member 4 2
- Vanilloid Receptor-Related Osmotically Activated Channel 3
External Ids for TRPV4 Gene
Previous GeneCards Identifiers for TRPV4 Gene
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]
GeneCards Summary for TRPV4 Gene
TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4) is a Protein Coding gene. Diseases associated with TRPV4 include Scapuloperoneal Spinal Muscular Atrophy and Spondylometaphyseal Dysplasia, Kozlowski Type. Among its related pathways are Ion channel transport and CREB Pathway. Gene Ontology (GO) annotations related to this gene include protein kinase binding and microtubule binding. An important paralog of this gene is TRPV1.
UniProtKB/Swiss-Prot Summary for TRPV4 Gene
Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification (PubMed:18826956, PubMed:18695040). Also activated by heat, low pH, citrate and phorbol esters (PubMed:16293632, PubMed:18826956, PubMed:18695040, PubMed:25256292, PubMed:20037586, PubMed:21964574). Increase of intracellular Ca(2+) potentiates currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback mechanism (PubMed:12724311, PubMed:18826956). Promotes cell-cell junction formation in skin keratinocytes and plays an important role in the formation and/or maintenance of functional intercellular barriers (By similarity). Acts as a regulator of intracellular Ca(2+) in synoviocytes (PubMed:19759329). Plays an obligatory role as a molecular component in the nonselective cation channel activation induced by 4-alpha-phorbol 12,13-didecanoate and hypotonic stimulation in synoviocytes and also regulates production of IL-8 (PubMed:19759329). Together with PKD2, forms mechano- and thermosensitive channels in cilium (PubMed:18695040). Negatively regulates expression of PPARGC1A, UCP1, oxidative metabolism and respiration in adipocytes (By similarity). Regulates expression of chemokines and cytokines related to proinflammatory pathway in adipocytes (By similarity). Together with AQP5, controls regulatory volume decrease in salivary epithelial cells (By similarity). Required for normal development and maintenance of bone and cartilage (PubMed:26249260).
[Isoform 5]: Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification. Also activated by phorbol esters. Has the same channel activity as isoform 1, and is activated by the same stimuli.
[Isoform 2]: Lacks channel activity, due to impaired oligomerization and intracellular retention.
[Isoform 4]: Lacks channel activity, due to impaired oligomerization and intracellular retention.
[Isoform 6]: Lacks channel activity, due to impaired oligomerization and intracellular retention.
Vanilloids are a group of compounds, structurally related to capsaicin, thought to exert their actions via vanilloid receptors. The vanilloid receptor family (TRPV) is a member of the transient receptor potential (TRP) superfamily of ion channels, and have six members (TRPV1-6).