Gene

TRPV4

Species
Homo sapiens
Symbol
TRPV4
Name
transient receptor potential cation channel subfamily V member 4
Synonyms
  • BCYM3
  • CMT2C
Biotype
protein coding gene
Automated Description
Enables several functions, including calmodulin binding activity; identical protein binding activity; and stretch-activated, monoatomic cation-selective, calcium channel activity. Involved in several processes, including blood vessel endothelial cell delamination; calcium ion transport; and cellular hypotonic response. Located in plasma membrane. Implicated in Charcot-Marie-Tooth disease axonal type 2C; motor neuron disease (multiple); osteochondrodysplasia (multiple); and osteonecrosis.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10582
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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      Transgenic Alleles

      Species
      (carrying the transgene)
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          TRPV4 molecule type
          Interactor gene
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            Genetic Interactions

            TRPV4 role
            TRPV4 genetic perturbation
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