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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]
TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4) is a Protein Coding gene. Diseases associated with TRPV4 include Spondylometaphyseal Dysplasia, Kozlowski Type and Scapuloperoneal Spinal Muscular Atrophy. Among its related pathways are Cellular senescence (KEGG) 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.
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).
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003779 | actin binding | ISS | -- |
GO:0005034 | osmosensor activity | IEA | -- |
GO:0005080 | protein kinase C binding | ISS | -- |
GO:0005216 | ion channel activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005881 | colocalizes_with cytoplasmic microtubule | ISS | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Ion channel transport | ||
2 | Cellular senescence (KEGG) | ||
3 | Fluid shear stress and atherosclerosis | ||
4 | Development Endothelin-1/EDNRA signaling | ||
5 | CREB Pathway |
Intracellular Calcium Signaling
.50
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0002024 | diet induced thermogenesis | IEA | -- |
GO:0006811 | ion transport | IEA | -- |
GO:0006816 | calcium ion transport | NAS | 11025659 |
GO:0006874 | cellular calcium ion homeostasis | IDA | 12724311 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Butamben | Approved, Withdrawn | Pharma | Target, inhibitor | 0 | ||
cannabidiol | Approved, Investigational | Pharma | Agonist, Partial agonist, Antagonist, Channel blocker, Activator, Target, activator | 0 | ||
Medical Cannabis | Experimental, Investigational | Pharma | Target | 0 | ||
Resiniferatoxin | Investigational | Pharma | Pore Blocker, Activator, Agonist | Potent vanilloid receptor agonist | 0 | |
Nabiximols | Investigational | Pharma | Target | 59 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
4α-PDH |
|
Activator |
|
|
||
bisandrographolide |
|
Activator |
|
|
||
(E)-Capsaicin |
|
404-86-4 |
|
|
Compound | Action | Cas Number |
---|---|---|
(E)-Capsaicin | Prototypic vanilloid receptor agonist | 404-86-4 |
Capsazepine | Vanilloid receptor antagonist; also activator of ENaCdelta | 138977-28-3 |
Olvanil | Potent vanilloid receptor agonist | 58493-49-5 |
Resiniferatoxin | Potent vanilloid receptor agonist | 57444-62-9 |
STEARDA | Endogenous lipid, active in vivo. Enhances effects of endovanilloids at TRPV1 receptors | 105955-10-0 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TRPV4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TRPV4 30 |
|
||
Cow (Bos Taurus) |
Mammalia | TRPV4 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Trpv4 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Trpv4 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | TRPV4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TRPV4 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | trpv4 30 |
|
||
Str.16318 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | trpv4 30 31 |
|
OneToOne | |
wufp52e02 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | nan 31 |
|
ManyToMany | |
iav 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | ocr-4 31 |
|
ManyToMany | |
ocr-3 31 |
|
ManyToMany | |||
ocr-1 31 |
|
ManyToMany | |||
osm-9 31 32 |
|
ManyToMany | |||
ocr-2 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
637419 | Uncertain Significance: Charcot-Marie-Tooth disease | 109,803,009(-) | G/T | MISSENSE_VARIANT | |
637420 | Uncertain Significance: Charcot-Marie-Tooth disease | 109,798,862(-) | T/A | MISSENSE_VARIANT | |
637421 | Uncertain Significance: Charcot-Marie-Tooth disease | 109,788,506(-) | G/A | MISSENSE_VARIANT | |
639307 | Uncertain Significance: Charcot-Marie-Tooth disease axonal type 2C; Charcot-Marie-Tooth disease | 109,814,747(-) | T/C | MISSENSE_VARIANT | |
639405 | Uncertain Significance: Charcot-Marie-Tooth disease axonal type 2C | 109,798,889(-) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1110896 | OTHER | inversion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spondylometaphyseal dysplasia, kozlowski type |
|
|
scapuloperoneal spinal muscular atrophy |
|
|
hereditary motor and sensory neuropathy, type iic |
|
|
parastremmatic dwarfism |
|
|
digital arthropathy-brachydactyly, familial |
|