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This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
TRPV3 (Transient Receptor Potential Cation Channel Subfamily V Member 3) is a Protein Coding gene. Diseases associated with TRPV3 include Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques and Palmoplantar Keratoderma, Nonepidermolytic, Focal 2. Among its related pathways are Neuroscience and Ca, cAMP and Lipid Signaling. Gene Ontology (GO) annotations related to this gene include ion channel activity and cation channel activity. 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:0005216 | ion channel activity | IEA,IBA | 21873635 |
GO:0005261 | cation channel activity | IEA | -- |
GO:0005262 | calcium channel activity | IBA | 21873635 |
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0043235 | receptor complex | IDA | 23382219 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Ion channel transport | ||
2 | Ca, cAMP and Lipid Signaling | ||
3 | Neuroscience | ||
4 | Development Endothelin-1/EDNRA signaling | ||
5 | CREB Pathway |
Intracellular Calcium Signaling
.50
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006816 | calcium ion transport | IEA | -- |
GO:0009266 | response to temperature stimulus | IEA | -- |
GO:0009408 | response to heat | IEA | -- |
GO:0034220 | ion transmembrane transport | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Menthol | Approved | Pharma | Activator, Activation, Partial agonist, Target, inducer, activator | 148 | ||
Camphor | Approved | Pharma | Activator, Target, agonist, activator | 10 | ||
Eugenol | Approved | Pharma | Activator, Target | 26 | ||
cannabidiol | Approved, Investigational | Pharma | Agonist, Partial agonist, Antagonist, Channel blocker, Activator, Target, activator | 0 | ||
Thymol | Approved | Pharma | Activator, Activation | 11 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
6-tert-butyl-<i>m</i>-cresol |
|
Activator |
|
|
||
carvacrol |
|
Channel blocker, Activator |
|
|
||
diphenyltetrahydrofuran |
|
Channel blocker |
|
|
||
incensole acetate |
|
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: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18a | · | 18b | · | 18c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TRPV3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TRPV3 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TRPV3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Trpv3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Trpv3 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | TRPV3 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TRPV3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TRPV3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TRPV3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | trpv3 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | nan 31 |
|
ManyToMany | |
iav 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | ocr-4 31 |
|
ManyToMany | |
ocr-2 31 |
|
ManyToMany | |||
ocr-3 31 |
|
ManyToMany | |||
ocr-1 31 |
|
ManyToMany | |||
osm-9 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
723776 | Likely Benign: not provided | 3,528,957(-) | C/T | SYNONYMOUS_VARIANT | |
734348 | Likely Benign: not provided | 3,516,447(-) | C/G | INTRON_VARIANT | |
740462 | Conflicting Interpretations: Palmoplantar keratoderma, nonepidermolytic, focal 2; not provided | 3,518,690(-) | C/T | SYNONYMOUS_VARIANT | |
746235 | Benign/Likely Benign: Palmoplantar keratoderma, nonepidermolytic, focal 2; not provided | 3,532,870(-) | G/A | SYNONYMOUS_VARIANT | |
756130 | Benign/Likely Benign: Palmoplantar keratoderma, nonepidermolytic, focal 2; not provided | 3,532,767(-) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv881e212 | CNV | loss | 25503493 |
esv1041981 | CNV | insertion | 17803354 |
esv23898 | CNV | gain | 19812545 |
esv2660206 | CNV | deletion | 23128226 |
esv2665707 | CNV | deletion | 23128226 |
esv3554017 | CNV | deletion | 23714750 |
esv3572354 | CNV | gain | 25503493 |
esv3639744 | CNV | loss | 21293372 |
esv3892950 | CNV | loss | 25118596 |
nsv1055740 | CNV | gain | 25217958 |
nsv1060071 | CNV | loss | 25217958 |
nsv1065489 | CNV | gain | 25217958 |
nsv1120334 | CNV | tandem duplication | 24896259 |
nsv516676 | CNV | gain+loss | 19592680 |
nsv526175 | CNV | gain | 19592680 |
nsv526538 | CNV | loss | 19592680 |
nsv527923 | CNV | loss | 19592680 |
nsv574237 | CNV | loss | 21841781 |
nsv833341 | CNV | loss | 17160897 |
nsv954591 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
palmoplantar keratoderma, mutilating, with periorificial keratotic plaques |
|
|
palmoplantar keratoderma, nonepidermolytic, focal 2 |
|
|
palmoplantar keratoderma, nonepidermolytic, focal 1 |
|
|
focal palmoplantar keratoderma |
|
|
palmoplantar keratoderma, nonepidermolytic |
|
|