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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 be... See more...
Aliases for TRPV3 Gene
Aliases for TRPV3 Gene
External Ids for TRPV3 Gene
- HGNC: 18084
- Entrez Gene: 162514
- Ensembl: ENSG00000167723
- OMIM: 607066
- UniProtKB: Q8NET8
Previous GeneCards Identifiers for TRPV3 Gene
- GC17M003730
- GC17M003367
- GC17M003623
- GC17M003363
- GC17M003308
- GC17M003413
Summaries 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 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.
UniProtKB/Swiss-Prot Summary 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).
-
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).
Additional gene information for TRPV3 Gene
- HGNC(18084)
- Entrez Gene(162514)
- Ensembl(ENSG00000167723)
- OMIM(607066)
- UniProtKB(Q8NET8)
- Open Targets Platform(ENSG00000167723)
- Monarch Initiative
- Search for TRPV3 at DataMed
- Search for TRPV3 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRPV3 Gene
Genomics for TRPV3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TRPV3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TRPV3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRPV3
- Top Transcription factor binding sites by QIAGEN in the TRPV3 gene promoter:
-
- E4BP4
- Egr-4
- GATA-1
- HOXA3
- Lmo2
- Max1
- NRF-2
- Olf-1
- Pax-4a
- SRY
Genomic Locations for TRPV3 Gene
Genomic Locations for TRPV3 Gene
- chr17:3,510,502-3,557,812
- (GRCh38/hg38)
- Size:
- 47,311 bases
- Orientation:
- Minus strand
- chr17:3,413,796-3,461,289
- (GRCh37/hg19)
- 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:
-
- 17p13.2 by HGNC
- 17p13.2 by Entrez Gene
- 17p13.2 by Ensembl
TRPV3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Three dimensional structures from OCA and Proteopedia for TRPV3 Gene
Protein Expression for TRPV3 Gene
Post-translational modifications for TRPV3 Gene
Other Protein References for TRPV3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ TRPV3 Antibody
- Alomone Labs, Ltd. Anti-TRPV3 (extracellular)-ATTO-633 Antibody and Anti-TRPV3 (extracellular)-Biotin Antibody
-
Custom Antibody ServicesOriGene Antibodies for TRPV3
- Novus Biologicals Antibodies for TRPV3
- Invitrogen Antibodies for TRPV3 (AFLGC-TRPV3)
-
Biorbyt antibodies for TRPV3
Protein Products
-
OriGene Purified Proteins for TRPV3
- Search Origene for MassSpec and Protein Over-expression Lysates for TRPV3
- Origene Custom Protein Services for TRPV3
- antibodies-online: Show 9 available TRPV3 Proteins ranked by validation data
- Compare Top TRPV3 Proteins
-
Quality Products:
-
Abcam proteins for TRPV3
Assay Products
- antibodies-online: Show 5 available TRPV3 Elisa Kits ranked by validation data
- Compare Top TRPV3 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for TRPV3
No data available for DME Specific Peptides for TRPV3 Gene
Domains & Families for TRPV3 Gene
Gene Families for TRPV3 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- FDA approved drug targets
- Predicted membrane proteins
Protein Domains for TRPV3 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for TRPV3 Gene
- GenScript: Design optimal peptide antigens:
-
- Transient receptor potential cation channel subfamily V member 3 (B2KYM6_HUMAN)
- TRPV3 protein (B7ZKP6_HUMAN)
- TRPV3 protein (B7ZKP9_HUMAN)
- Transient receptor potential cation channel, subfamily V, member 3 (Q2M3L1_HUMAN)
- Vanilloid receptor-like 3 (TRPV3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8NET8UniProtKB/Swiss-Prot:
TRPV3_HUMAN :- Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV3 sub-subfamily.
- Family:
-
- Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV3 sub-subfamily.
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).
| 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 | -- |
Phenotypes for TRPV3 Gene
- MGI mutant phenotypes for TRPV3:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for TRPV3:
Animal Model Products
-
Taconic Biosciences Mouse Models for TRPV3
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TRPV3 - Select products 50% OFF >
- * TRPV3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TRPV3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TRPV3
-
Santa Cruz Biotechnology (SCBT) CRISPR for TRPV3
miRNA for TRPV3 Gene
- miRTarBase miRNAs that target TRPV3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TRPV3
- Browse OriGene Inhibitory RNA Products For TRPV3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRPV3
Clone Products
- Applied Biological Materials (abm): Clones for TRPV3 - Select products 50% OFF >
- * TRPV3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TRPV3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TRPV3
Cell Line Products
-
Horizon Cell Lines for TRPV3
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| cytoskeleton | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
- Centrosome (2)
- Cytosol (2)
- Plasma membrane (2)
| 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 |
Pathways & Interactions for TRPV3 Gene
| 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
|
|
Pathways by source for TRPV3 Gene
4 Reactome pathways for TRPV3 Gene
1 KEGG pathway for TRPV3 Gene
1 Qiagen pathway for TRPV3 Gene
- Intracellular Calcium Signaling
2 Cell Signaling Technology pathways for TRPV3 Gene
Interacting Proteins for TRPV3 Gene
GPS-Prot Interaction Network for TRPV3
| 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 | -- |
No data available for SIGNOR curated interactions for TRPV3 Gene
Drugs & Compounds for TRPV3 Gene
| 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 |
|
|
(5) Tocris Compounds for TRPV3 Gene
| 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 |
Transcripts for TRPV3 Gene
mRNA/cDNA for TRPV3 Gene
- 2 REFSEQ mRNAs :
- 20 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000301365 3235 nts (view in UCSC)
- ENST00000381913 5050 nts (view in UCSC)
- ENST00000571005 547 nts (view in UCSC)
- ENST00000571139 2726 nts (view in UCSC)
- ENST00000572519 2937 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TRPV3 - Select products 50% OFF >
- * TRPV3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TRPV3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TRPV3
-
Santa Cruz Biotechnology (SCBT) CRISPR for TRPV3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TRPV3
- Browse OriGene Inhibitory RNA Products For TRPV3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRPV3
Clone Products
- Applied Biological Materials (abm): Clones for TRPV3 - Select products 50% OFF >
- * TRPV3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TRPV3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TRPV3
| 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
Expression 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).
This gene is overexpressed in Neutrophil (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TRPV3 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRPV3
SOURCE GeneReport for Unigene cluster for TRPV3 Gene:
Hs.446255mRNA 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).
Evidence on tissue expression from TISSUES for TRPV3 Gene
- Skin(2.8)
- Nervous system(2.6)
- Blood(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TRPV3 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- immune
- integumentary
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- skull
- tooth
Thorax:
- chest wall
- clavicle
- rib
- rib cage
- scapula
- sternum
Pelvis:
- pelvis
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- skin
- spinal column
- sweat gland
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for TRPV3
Gene Expression 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.
| 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 |
- Species where no ortholog for TRPV3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for TRPV3: view image
Paralogs for TRPV3 Gene
(5) SIMAP similar genes for TRPV3 Gene using alignment to 8 proteins:
- TRPV3_HUMAN
- B2KYM6_HUMAN
- B7ZKP6_HUMAN
- B7ZKP9_HUMAN
- I3L0L5_HUMAN
- I3L402_HUMAN
- J3KPJ6_HUMAN
- Q2M3L1_HUMAN
Variants for TRPV3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRPV3 Gene
| 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 |
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)
Additional Variant Information for TRPV3 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRPV3 Gene
Disorders for TRPV3 Gene
(20) MalaCards diseases for TRPV3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| 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 |
|
|
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.
Additional Disease Information for TRPV3
No data available for Genatlas for TRPV3 Gene
Publications for TRPV3 Gene
- TRPV3 is a temperature-sensitive vanilloid receptor-like protein. (PMID: 12077606) Smith GD … Davis JB (Nature 2002) 2 3 4
- A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family. (PMID: 25285920) He Y … Wang K (The Journal of investigative dermatology 2015) 3 4
- Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. (PMID: 22405088) Lin Z … Yang Y (American journal of human genetics 2012) 3 4
- Activation of transient receptor potential vanilloid-3 inhibits human hair growth. (PMID: 21593771) Borbíró I … Bíró T (The Journal of investigative dermatology 2011) 3 4
- Differential regulation of TRPV1, TRPV3, and TRPV4 sensitivity through a conserved binding site on the ankyrin repeat domain. (PMID: 19864432) Phelps CB … Gaudet R (The Journal of biological chemistry 2010) 3 23
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