TRPV3 Gene (Protein Coding)

Transient Receptor Potential Cation Channel Subfamily V Member 3

GC17M003515
GIFtS:
44
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

  • Transient Receptor Potential Cation Channel Subfamily V Member 3 2 3 4 5
  • Vanilloid Receptor-Like 3 3 4
  • VRL-3 3 4
  • VRL3 2 3
  • Transient Receptor Potential Cation Channel, Subfamily V, Member 3 2
  • Vanilloid Receptor-Related Osmotically Activated Channel Protein 3
  • FNEPPK2 3
  • OLMS1 3
  • TRPV3 5
  • TrpV3 4
  • OLMS 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 Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 and Olmsted Syndrome 1. Among its related pathways are Ion channel transport and TRP channels. 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).

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

Additional gene information for TRPV3 Gene

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

Download GeneHancer 2017 data
Promoters and enhancers for TRPV3 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH17J003534 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 286.2 +22.0 21972 2.3 ZNF600 IKZF1 POLR2A ZIC2 ZBTB10 ZNF341 CTCF ZNF513 NONO ZNF610 TRPV3 ANKFY1 RN7SL608P ZZEF1 OR3A3 P2RX5 RF00017-2006 lnc-SPATA22-1 SPATA22 MG828730-025
GH17J003556 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 299.5 -0.3 -337 3.1 BCLAF1 SP1 IKZF1 MYC POLR2A BCL11A ZNF592 SIN3A TARDBP TRIM22 TRPV3 lnc-TRPV1-2 SHPK ASPA MG828730-025 MK280269-020 TRPV1
GH17J003528 Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 40.7 +27.6 27611 4.4 ZMYM3 ZFP64 KDM6A SMAD4 SAP130 YY1 DMAP1 TEAD3 BCL6 ZNF205 lnc-SPATA22-1 TRPV3 ASPA OR1E2 CAMKK1 TRPV1 RF00017-2006 SPATA22 MG828730-025 MK280269-020
GH17J003574 Enhancer 0.5 Ensembl ENCODE 13.5 -17.5 -17465 2.2 MAFK USF2 TRPV3 SHPK ENSG00000263338 MG828730-025 TRPV1
GH17J003550 Enhancer 0.4 FANTOM5 14.5 +7.5 7545 0.3 ZNF366 ZBTB17 TRPV3 OR1G1 OR1A1 OR1A2 OR1E2 RF00017-2006 lnc-TRPV1-2 MG828730-025 MK280269-020 SPATA22
- 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

Latest Assembly
chr17:3,510,502-3,557,812
(GRCh38/hg38)
Size:
47,311 bases
Orientation:
Minus strand

Previous Assembly
chr17:3,413,796-3,461,106
(GRCh37/hg19 by Entrez Gene)
Size:
47,311 bases
Orientation:
Minus strand

chr17:3,413,796-3,461,289
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for TRPV3 Gene

Proteins for TRPV3 Gene

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  • 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.

    Three dimensional structures from OCA and Proteopedia for TRPV3 Gene

    Alternative splice isoforms for TRPV3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRPV3 Gene

Protein Expression for TRPV3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TRPV3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TRPV3 Gene

ENSEMBL proteins:
REFSEQ proteins:

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:

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

Q8NET8

UniProtKB/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.
genes like me logo Genes that share domains with TRPV3: view

Function for TRPV3 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
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  6. Cell Lines for research

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).

Gene Ontology (GO) - Molecular Function for TRPV3 Gene

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 --
genes like me logo Genes that share ontologies with TRPV3: view
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 Models for research

  • Taconic Biosciences Mouse Models for TRPV3

miRNA for TRPV3 Gene

miRTarBase miRNAs that target TRPV3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRPV3 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
mitochondrion 1
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TRPV3 Gene

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
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

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

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000301365 Q8NET8-TRPV3_HUMAN for TRPV3 Gene via STRING IID

GPS-Prot Interaction Network for TRPV3

Gene Ontology (GO) - Biological Process for TRPV3 Gene

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 --
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

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(19) 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 Activator, Target, inducer 165
Camphor Approved Pharma Activator, Target, agonist 10
Eugenol Approved Pharma Activator, Target 28
cannabidiol Approved, Investigational Pharma Target, activator 0
Thymol Approved Pharma Activator 12

(4) 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
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
genes like me logo Genes that share compounds with TRPV3: view

Transcripts for TRPV3 Gene

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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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRPV3

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

Expression for TRPV3 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TRPV3 Gene

mRNA expression in normal human tissues for TRPV3 Gene
mRNA expression by BioGPS for TRPV3 GenemRNA expression by GTEx 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 and MOPED for TRPV3 Gene



Protein tissue co-expression partners for TRPV3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRPV3

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).

Evidence on tissue expression from TISSUES for TRPV3 Gene

  • Skin(2.6)
  • Nervous system(2.4)

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
genes like me logo Genes that share expression patterns with TRPV3: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
 Mammalia TRPV3 29 30
  • 98.77 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TRPV3 30
  • 94 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TRPV3 29 30
  • 90.93 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Trpv3 29 16 30
  • 88.14 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Trpv3 29
  • 88.06 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia TRPV3 30
  • 85 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia TRPV3 30
  • 40 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves TRPV3 29 30
  • 67.82 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia TRPV3 30
  • 71 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia trpv3 29
  • 61.21 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta nan 30
  • 18 (a)
 ManyToMany
iav 30
  • 13 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea ocr-4 30
  • 20 (a)
 ManyToMany
ocr-2 30
  • 17 (a)
 ManyToMany
ocr-3 30
  • 17 (a)
 ManyToMany
ocr-1 30
  • 17 (a)
 ManyToMany
osm-9 30
  • 15 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 24 (a)
 ManyToMany
-- 30
  • 20 (a)
 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
Alliance of Genome Resources:
Additional Orthologs for TRPV3

Paralogs for TRPV3 Gene

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

Variants for TRPV3 Gene

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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
1013122 Uncertain Significance: not provided 3,518,794(-) C/T
NM_145068.4(TRPV3):c.1867G>A (p.Gly623Ser) 		MISSENSE
888619 Benign: Palmoplantar keratoderma, nonepidermolytic, focal 2 3,510,762(-) C/T
NM_145068.4(TRPV3):c.*3155G>A 		THREE_PRIME_UTR_VARIANT,INTRON
888620 Uncertain Significance: Palmoplantar keratoderma, nonepidermolytic, focal 2 3,510,803(-) G/T
NM_145068.4(TRPV3):c.*3114C>A 		THREE_PRIME_UTR_VARIANT,INTRON
888728 Uncertain Significance: Palmoplantar keratoderma, nonepidermolytic, focal 2 3,512,589(-) G/T
NM_145068.4(TRPV3):c.*1328C>A 		THREE_PRIME_UTR_VARIANT,INTRON
888729 Uncertain Significance: Palmoplantar keratoderma, nonepidermolytic, focal 2 3,512,637(-) C/T
NM_145068.4(TRPV3):c.*1280G>A 		THREE_PRIME_UTR_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TRPV3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)

Additional Variant Information for TRPV3 Gene

Human Gene Mutation Database (HGMD)
TRPV3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRPV3
Leiden Open Variation Database (LOVD)
TRPV3

SNP Genotyping and Copy Number Assays for research

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

Disorders for TRPV3 Gene

MalaCards: The human disease database

(23) MalaCards diseases for TRPV3 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for TRPV3

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

No data available for Genatlas for TRPV3 Gene

Publications for TRPV3 Gene

  1. 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 72
  2. 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 72
  3. TRPV3 is a temperature-sensitive vanilloid receptor-like protein. (PMID: 12077606) Smith GD … Davis JB (Nature 2002) 2 3 4
  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
  5. 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 22

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