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Aliases for TRPV3 Gene

Aliases for TRPV3 Gene

  • Transient Receptor Potential Cation Channel Subfamily V Member 3 2 3
  • Transient Receptor Potential Cation Channel, Subfamily V, Member 3 2 3 5
  • Vanilloid Receptor-Like 3 3 4
  • VRL-3 3 4
  • Vanilloid Receptor-Related Osmotically Activated Channel Protein 3
  • FNEPPK2 3
  • TrpV3 4
  • OLMS 3
  • VRL3 3

External Ids for TRPV3 Gene

Previous GeneCards Identifiers for TRPV3 Gene

  • GC17M003730
  • GC17M003367
  • GC17M003623
  • GC17M003363
  • GC17M003308
  • GC17M003413

Summaries for TRPV3 Gene

Entrez Gene Summary for TRPV3 Gene

  • 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]

GeneCards Summary for TRPV3 Gene

TRPV3 (Transient Receptor Potential Cation Channel Subfamily V Member 3) is a Protein Coding gene. Diseases associated with TRPV3 include olmsted syndrome and palmoplantar keratoderma, nonepidermolytic, focal 2. Among its related pathways are Development Endothelin-1/EDNRA signaling and Ca, cAMP and Lipid Signaling. GO annotations related to this gene include ion channel activity and cation channel activity. An important paralog of this gene is TRPV1.

UniProtKB/Swiss-Prot for TRPV3 Gene

  • Putative receptor-activated non-selective calcium permeant cation channel. It is activated by innocuous (warm) temperatures and shows an increased response at noxious temperatures greater than 39 degrees Celsius. Activation exhibits an outward rectification. May associate with TRPV1 and may modulate its activity. Is a negative regulator of hair growth and cycling: TRPV3-coupled signaling suppresses keratinocyte proliferation in hair follicles and induces apoptosis and premature hair follicle regression (catagen).

Tocris Summary for TRPV3 Gene

  • 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).

Gene Wiki entry for TRPV3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRPV3 Gene

Genomics for TRPV3 Gene

Regulatory Elements for TRPV3 Gene

Enhancers for TRPV3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TRPV3 on UCSC Golden Path with GeneCards custom track

Promoters for TRPV3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TRPV3 on UCSC Golden Path with GeneCards custom track

Genomic Location for TRPV3 Gene

Chromosome:
17
Start:
3,510,502 bp from pter
End:
3,557,995 bp from pter
Size:
47,494 bases
Orientation:
Minus strand

Genomic View for TRPV3 Gene

Genes around TRPV3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRPV3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRPV3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRPV3 Gene

Proteins for TRPV3 Gene

  • Protein details for TRPV3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NET8-TRPV3_HUMAN
    Recommended name:
    Transient receptor potential cation channel subfamily V member 3
    Protein Accession:
    Q8NET8
    Secondary Accessions:
    • Q8NDW7
    • Q8NET9
    • Q8NFH2

    Protein attributes for TRPV3 Gene

    Size:
    790 amino acids
    Molecular mass:
    90636 Da
    Quaternary structure:
    • May form a heteromeric channel with TRPV1. Interacts with TRPV1.

    Alternative splice isoforms for TRPV3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRPV3 Gene

Proteomics data for TRPV3 Gene at MOPED

Post-translational modifications for TRPV3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TRPV3 (TRPV3)

No data available for DME Specific Peptides for TRPV3 Gene

Domains & Families for TRPV3 Gene

Protein Domains for TRPV3 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NET8

UniProtKB/Swiss-Prot:

TRPV3_HUMAN :
  • Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV3 sub-subfamily.
  • Contains 3 ANK repeats.
Family:
  • Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV3 sub-subfamily.
Similarity:
  • Contains 3 ANK repeats.
genes like me logo Genes that share domains with TRPV3: view

Function for TRPV3 Gene

Molecular function for TRPV3 Gene

UniProtKB/Swiss-Prot Function:
Putative receptor-activated non-selective calcium permeant cation channel. It is activated by innocuous (warm) temperatures and shows an increased response at noxious temperatures greater than 39 degrees Celsius. Activation exhibits an outward rectification. May associate with TRPV1 and may modulate its activity. Is a negative regulator of hair growth and cycling: TRPV3-coupled signaling suppresses keratinocyte proliferation in hair follicles and induces apoptosis and premature hair follicle regression (catagen).
genes like me logo Genes that share phenotypes with TRPV3: view

Human Phenotype Ontology for TRPV3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TRPV3 Gene

MGI Knock Outs for TRPV3:

Animal Model Products

  • Taconic Biosciences Mouse Models for TRPV3

miRNA for TRPV3 Gene

miRTarBase miRNAs that target TRPV3

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for TRPV3 Gene

Localization for TRPV3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRPV3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TRPV3 Gene COMPARTMENTS Subcellular localization image for TRPV3 gene
Compartment Confidence
plasma membrane 5
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TRPV3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TRPV3: view

Pathways & Interactions for TRPV3 Gene

genes like me logo Genes that share pathways with TRPV3: view

Pathways by source for TRPV3 Gene

2 Cell Signaling Technology pathways for TRPV3 Gene
1 KEGG pathway for TRPV3 Gene
1 Qiagen pathway for TRPV3 Gene

Interacting Proteins for TRPV3 Gene

Gene Ontology (GO) - Biological Process for TRPV3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009266 response to temperature stimulus IEA --
GO:0034220 ion transmembrane transport IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with TRPV3: view

No data available for SIGNOR curated interactions for TRPV3 Gene

Drugs & Compounds for TRPV3 Gene

(11) Drugs for TRPV3 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Menthol Approved Pharma Partial agonist, Activator, activator, Target, inducer 2080
Camphor Experimental Pharma Activator 10
Thymol Experimental Pharma Activation, Activator 4
aspirin-triggered resolvin D1 Pharma Full agonist, Agonist 0
isopentenyl diphosphate Pharma Inhibition, Inhibitor 0

(8) Additional Compounds for TRPV3 Gene - From: IUPHAR and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
6-tert-butyl-<i>m</i>-cresol
Activator
carvacrol
Channel blocker
diphenyltetrahydrofuran
Channel blocker
eugenol
  • 1-Hydroxy-2-methoxy-4-allylbenzene
  • 1-Hydroxy-2-methoxy-4-prop-2-enylbenzene
  • 1-Hydroxy-2-methoxy-4-propenylbenzene
  • 2-Hydroxy-5-allylanisole
  • 2-Methoxy-1-hydroxy-4-allylbenzene
Activator 97-53-0
incensole acetate
Activator

(5) Tocris Compounds for TRPV3 Gene

Compound Action Cas Number
(E)-Capsaicin Prototypic vanilloid receptor agonist 404-86-4
AM 404 Anandamide transport inhibitor 198022-70-7
Anandamide (in Tocrisolve 100) Endogenous CB receptor agonist (in water-soluble emulsion) 94421-68-8
Olvanil Potent vanilloid receptor agonist 58493-49-5
Resiniferatoxin Potent vanilloid receptor agonist 57444-62-9
genes like me logo Genes that share compounds with TRPV3: view

Transcripts for TRPV3 Gene

Unigene Clusters for TRPV3 Gene

Transient receptor potential cation channel, subfamily V, member 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TRPV3 Gene

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:

Relevant External Links for TRPV3 Gene

GeneLoc Exon Structure for
TRPV3
ECgene alternative splicing isoforms for
TRPV3

Expression for TRPV3 Gene

mRNA expression in normal human tissues for TRPV3 Gene

mRNA differential expression in normal tissues according to GTEx for TRPV3 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x7.2) and Skin - Sun Exposed (Lower leg) (x6.5).

Protein differential expression in normal tissues from HIPED for TRPV3 Gene

This gene is overexpressed in Neutrophil (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TRPV3 Gene



SOURCE GeneReport for Unigene cluster for TRPV3 Gene Hs.446255

mRNA Expression by UniProt/SwissProt for TRPV3 Gene

Q8NET8-TRPV3_HUMAN
Tissue specificity: Abundantly expressed in CNS. Widely expressed at low levels. Detected in dorsal root ganglion (at protein level). Expressed in the keratinocyte layers of the outer root sheath and, to lesser extent, to the matrix of the hair follicles (at protein level).
genes like me logo Genes that share expression patterns with TRPV3: view

Protein tissue co-expression partners for TRPV3 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for TRPV3 Gene

Orthologs for TRPV3 Gene

This gene was present in the common ancestor of animals.

Orthologs for TRPV3 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia TRPV3 35
  • 90.93 (n)
  • 94.05 (a)
TRPV3 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Trpv3 35
  • 88.14 (n)
  • 93.16 (a)
Trpv3 16
Trpv3 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TRPV3 35
  • 98.77 (n)
  • 98.55 (a)
TRPV3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Trpv3 35
  • 88.06 (n)
  • 93.29 (a)
cow
(Bos Taurus)
Mammalia TRPV3 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TRPV3 36
  • 40 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TRPV3 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves TRPV3 35
  • 67.82 (n)
  • 72.47 (a)
TRPV3 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TRPV3 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trpv3 35
  • 61.21 (n)
  • 62.65 (a)
fruit fly
(Drosophila melanogaster)
Insecta iav 36
  • 13 (a)
ManyToMany
nan 36
  • 18 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ocr-1 36
  • 17 (a)
ManyToMany
ocr-2 36
  • 17 (a)
ManyToMany
ocr-3 36
  • 17 (a)
ManyToMany
ocr-4 36
  • 20 (a)
ManyToMany
osm-9 36
  • 15 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 24 (a)
ManyToMany
-- 36
  • 20 (a)
ManyToMany
Species with no ortholog for TRPV3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for TRPV3 Gene

ENSEMBL:
Gene Tree for TRPV3 (if available)
TreeFam:
Gene Tree for TRPV3 (if available)

Paralogs for TRPV3 Gene

Paralogs for TRPV3 Gene

(5) SIMAP similar genes for TRPV3 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with TRPV3: view

Variants for TRPV3 Gene

Sequence variations from dbSNP and Humsavar for TRPV3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs322965 - 3,554,778(-) CTGCC(A/G)TCCTG nc-transcript-variant, reference, missense
rs322937 - 3,543,591(-) AAAAG(A/C/G)GGCGG nc-transcript-variant, reference, missense
VAR_052390 -
rs199473704 Olmsted syndrome (OLMS), Olmsted syndrome (OLMS) 3,524,224(-) CCATG(A/G/T)GCATG intron-variant, nc-transcript-variant, reference, missense
rs199473705 Olmsted syndrome (OLMS) 3,518,587(-) GCATC(G/T)GGCGC nc-transcript-variant, downstream-variant-500B, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TRPV3 Gene

Variant ID Type Subtype PubMed ID
esv2660206 CNV Deletion 23128226
nsv907553 CNV Loss 21882294
nsv833341 CNV Loss 17160897
nsv526538 CNV Loss 19592680
esv2665707 CNV Deletion 23128226
nsv527923 CNV Loss 19592680
nsv526175 CNV Gain 19592680
dgv3042n71 CNV Loss 21882294
esv1041981 CNV Insertion 17803354
nsv907565 CNV Loss 21882294
nsv516676 CNV Gain+Loss 19592680

Variation tolerance for TRPV3 Gene

Residual Variation Intolerance Score: 22.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.08; 92.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TRPV3 Gene

HapMap Linkage Disequilibrium report
TRPV3
Human Gene Mutation Database (HGMD)
TRPV3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRPV3 Gene

Disorders for TRPV3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TRPV3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
olmsted syndrome
  • palmoplantar keratoderma, mutilating, with periorificial keratotic plaques
palmoplantar keratoderma, nonepidermolytic, focal 2
  • palmoplantar keratoderma, non-epidermolytic, focal 2
erythromelalgia
  • mitchell disease
- elite association - COSMIC cancer census association via MalaCards
Search TRPV3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TRPV3_HUMAN
  • Olmsted syndrome (OLMS) [MIM:614594]: A rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes. {ECO:0000269 PubMed:22405088, ECO:0000269 PubMed:22835024}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Palmoplantar keratoderma, non-epidermolytic, focal 2 (FNEPPK2) [MIM:616400]: A dermatological disorder characterized by non-epidermolytic, abnormal thickening of the skin on the palms and soles. Focal palmoplantar keratoderma consists of localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. {ECO:0000269 PubMed:25285920}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TRPV3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TRPV3
genes like me logo Genes that share disorders with TRPV3: view

No data available for Genatlas for TRPV3 Gene

Publications for TRPV3 Gene

  1. TRPV3 is a temperature-sensitive vanilloid receptor-like protein. (PMID: 12077606) Smith G.D. … Davis J.B. (Nature 2002) 2 3 4 67
  2. Differential regulation of TRPV1, TRPV3, and TRPV4 sensitivity through a conserved binding site on the ankyrin repeat domain. (PMID: 19864432) Phelps C.B. … Gaudet R. (J. Biol. Chem. 2010) 3 23
  3. Quantitative Real-Time PCR detection of TRPV1-4 gene expression in human leukocytes from healthy and hyposensitive subjects. (PMID: 18983665) Spinsanti G. … Aloisi A.M. (Mol Pain 2008) 3 23
  4. More than cool: promiscuous relationships of menthol and other sensory compounds. (PMID: 16829128) Macpherson L.J. … Story G.M. (Mol. Cell. Neurosci. 2006) 25 26
  5. International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels. (PMID: 16382100) Clapham D.E. … Schultz G. (Pharmacol. Rev. 2005) 2 3

Products for TRPV3 Gene

Sources for TRPV3 Gene

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