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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TRPV3 Gene

protein-coding   GIFtS: 56
GCID: GC17M003363

transient receptor potential cation channel, subfamily V,...
 Explore 9 diseases affiliated with
TRPV3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TRPV3    

Aliases
for TRPV3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Transient Receptor Potential Cation Channel, Subfamily V, Member 31 2     OLMS2
VRL31 2     Transient Receptor Potential Cation Channel Subfamily V Member 32
Vanilloid Receptor-Like 32 3     Vanilloid Receptor-Related Osmotically Activated Channel Protein2
VRL-32 3     TrpV33

External Ids:    HGNC: 180841   Entrez Gene: 1625142   Ensembl: ENSG000001677237   OMIM: 6070665   UniProtKB: Q8NET83   

Export aliases for TRPV3 gene to outside databases

Previous GC identifers: GC17M003730 GC17M003367 GC17M003623 GC17M003308


Summaries
for TRPV3 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for TRPV3:
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)

UniProtKB/Swiss-Prot: TRPV3_HUMAN, Q8NET8
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)

summary for TRPV3:
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 subgroup of the transient receptor potential
(TRP) superfamily of ion channels, and six members (TRPV1-6) have so far been identified. The six vanilloid
receptor members have been divided into four groups on the basis of structure and function: TRPV1/2, TRPV3,
TRPV4 and TRPV5/6. TRPV1-4 are thermosensitive, non-selective cation channels that exist as tetrameric
complexes. They are activated by a range of stimuli including heat, protons, lipids and changes in
osmolarity or pressure. TRPV5-6 are calcium selective channels that are involved in the absorption and
reabsorption of calcium across intestinal and renal epithelia. It has been proposed that cannabinoids are
endogenous ligands for vanilloid receptors. Furthermore, adenosine has been shown to be an endogenous TRPV1
ligand and TRPV4 is activated by anandamide and arachidonic acid.

Gene Wiki entry for TRPV3


Genomic Views
for TRPV3 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010718.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TRPV3 gene promoter:
         Max1   HOXA3   Olf-1   Lmo2   E4BP4   Egr-4   GATA-1   SRY   NRF-2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TRPV3 promoter sequence
   Search SABiosciences Chromatin IP Primers for TRPV3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TRPV3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.2   Ensembl cytogenetic band:  17p13.2   HGNC cytogenetic band: 17p13.3

TRPV3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TRPV3 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M003363:  view genomic region     (about GC identifiers)

Start:
 3,413,796 bp from pter      End:
 3,461,289 bp from pter
Size:
 47,494 bases      Orientation:
 minus strand

Proteins
for TRPV3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: TRPV3_HUMAN, Q8NET8 (See protein sequence)
Recommended Name: Transient receptor potential cation channel subfamily V member 3  
Size: 790 amino acids; 90636 Da
Subunit: May form a heteromeric channel with TRPV1. Interacts with TRPV1
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: Q8NDW7 Q8NET9 Q8NFH2
Alternative splicing: 3 isoforms:  Q8NET8-1   Q8NET8-2   Q8NET8-3   

Explore the universe of human proteins at neXtProt for TRPV3: NX_Q8NET8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NET8

    • TRPV3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001245134.1  NP_659505.1  

    ENSEMBL proteins: 
     ENSP00000371338   ENSP00000460856   ENSP00000301365   ENSP00000458187   ENSP00000458239  
     ENSP00000461518   ENSP00000460215  

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    Novus Biologicals TRPV3 Protein
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    Uscn Proteins for TRPV3

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--


    TRPV3 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for TRPV3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TRPV3 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR024862 TRPV_channel
     IPR008347 TRPV1-4_channel
     IPR020683 Ankyrin_rpt-contain_dom
     IPR005821 Ion_trans_dom
     IPR024866 TRPV3_channel

    Graphical View of Domain Structure for InterPro Entry Q8NET8

    ProtoNet protein and cluster: Q8NET8

    UniProtKB/Swiss-Prot: TRPV3_HUMAN, Q8NET8
    Similarity: Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV3 sub-subfamily
    Similarity: Contains 3 ANK repeats


    Function
    for TRPV3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: TRPV3_HUMAN, Q8NET8
    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)

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    hsa-miR-203 hsa-miR-1298 hsa-miR-1184 hsa-miR-590-3p
    SwitchGear 3'UTR luciferase reporter plasmid: TRPV3 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005261cation channel activity ----
    GO:0005262calcium channel activity IEA--
    GO:0005515protein binding ----


    TRPV3 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for TRPV3:
     Upregulation of Wnt/beta-caten 

    Animal Models:
         Mouse knock-outs for TRPV3: Trpv3tm1.2Clph Trpv3tm1Apat
         3 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Trpv3):
     behavior/neurological  immune system  integument 

    TRPV3 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for TRPV3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Neuroscience
    		Neuroscience1.00
    2Ca, cAMP and Lipid Signaling
    		Ca, cAMP and Lipid Signaling1.00
    3CREB Pathway
    		Intracellular Calcium Signaling0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for TRPV3
        Intracellular Calcium Signaling

    2 Cell Signaling Technology (CST) Pathways for TRPV3
        Ca, cAMP and Lipid Signaling
    Neuroscience



    TRPV3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TRPV3

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009266response to temperature stimulus IEA--
    GO:0042636negative regulation of hair cycle IMP--


    TRPV3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for TRPV3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for TRPV3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    CapsazepineVanilloid receptor antagonist. Also activator of ENaCdelta[138977-28-3]
    OlvanilPotent vanilloid receptor agonist[58493-49-5]
    ResiniferatoxinPotent vanilloid receptor agonist[57444-62-9]
    6-Iodonordihydrocapsaicin Potent, competitive vanilloid receptor antagonist --
    PPAHVNon-pungent vanilloid receptor agonist[175796-50-6]

    2 HMDB Compounds for TRPV3    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Menthol(-)-(1R,3R,4S)-Menthol (see all 21)2216-51-5--

    1 DrugBank Compound for TRPV3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Menthol(-)-menthol (see all 5)2216-51-5targetinducer16829128

    Search CenterWatch for drugs/clinical trials and news about TRPV3 

    Transcripts
    for TRPV3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for TRPV3 gene (2 alternative transcripts): 
    NM_001258205.1  NM_145068.3  

    Unigene Cluster for TRPV3:

    Transient receptor potential cation channel, subfamily V, member 3
    Hs.446255  [show with all ESTs]
    Unigene Representative Sequence: NM_001258205
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000381913 ENST00000577016 ENST00000301365(uc002fvs.1 uc010vrh.1 uc010vri.1 uc010vrk.1 uc002fvt.1 uc010vrj.1)
    ENST00000571139(uc010vrl.1 uc010vrn.1) ENST00000573539(uc010vrm.1)
    ENST00000576742(uc002fvr.2) ENST00000572519(uc002fvu.3) ENST00000571005
    ENST00000575865 ENST00000574773

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    hsa-miR-203 hsa-miR-1298 hsa-miR-1184 hsa-miR-590-3p
    SwitchGear 3'UTR luciferase reporter plasmid: TRPV3 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TRPV3 (see all 7)
    OriGene shRNA RFP: TRPV3
    OriGene siRNA: TRPV3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TRPV3
    Clone
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    Additional cDNA sequence: 

    AF514998.1 AJ487035.2 AK092557.1 AK127330.1 AK127726.1 AK304768.1 AY118267.1 AY118268.1 
    BC104866.1 BC104868.1 BC143294.1 BC143295.1 BC143299.1 BC143330.1 BC143333.1 BC143334.1 
    BC143336.1 BX537539.1 EU295940.1 

    5 DOTS entries:

    DT.100017442  DT.40249817  DT.99932919  DT.120974268  DT.95360528 

    24/26 AceView cDNA sequences (see all 26):

    AF514998 AI168031 BQ184858 NM_145068 AK127330 BQ880498 AK092557 AK127726 
    CD518643 BQ187780 AY118267 AY118268 BP349122 BX509551 BX537539 BM929442 
    BF512203 AJ487035 BQ070763 BP431662 BX509552 AA853983 AW850160 AA345138 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for TRPV3    About this scheme

    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:                                                                                                                                                            


    ECgene alternative splicing isoforms for TRPV3

    Expression
    for TRPV3 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TRPV3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTGTGCCAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    TRPV3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TRPV3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TRPV3

    SOURCE GeneReport for Unigene cluster: Hs.446255

    UniProtKB/Swiss-Prot: TRPV3_HUMAN, Q8NET8
    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)

        SABiosciences Expression via Pathway-Focused PCR Array including TRPV3: 
              Neuronal Ion Channels in human mouse rat

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    In Situ
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    Orthologs
    for TRPV3 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for TRPV3 gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves TRPV31 transient receptor potential cation channel, subfamily more 67.82(n)
    72.47(a)    		   771945  XM_001235154.2  XP_001235155.1 
    lizard
    (Anolis carolinensis)    		 Reptilia TRPV36
    		 --
    		 72(a)
    		 1 ↔ 1
    		 AAWZ02038341(930-8205)
    fruit fly
    (Drosophila melanogaster)    		 Insecta nan6
    iav6
    		 inactive
    		 17(a)
    13(a)
    		 many ↔ many
    many ↔ many
    		 3L(14179349-14182748)
    X(6708151-6712189)
    worm
    (Caenorhabditis elegans)    		 Secernentea ocr-46
    ocr-16
    (see all 5)    		 Osm-9 and Capsaicin receptor-Related family member...
    Osm-9 and Capsaicin receptor-Related family member...
    (see all 5)    		 19(a)
    17(a)
    (see all 5)    		 many ↔ many
    many ↔ many
    (see all 5)    		 IV(7329609-7332800)
    V(10764346-10768434)


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

    Paralogs
    for TRPV3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TRPV3 gene
    TRPV52  TRPV62  TRPV12  TRPV22  TRPV42  
    5 SIMAP similar genes for TRPV3 using alignment to 8 protein entries:     TRPV3_HUMAN (see all proteins):
    FLJ00078    TRPV4    ECAC2    TRPV1    TRPV2

    TRPV3 for paralogs           About GeneDecksing



    Genomic Variants
    for TRPV3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1219 NCBI SNPs in TRPV3 are shown (see all 1219)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1994737041,2
    		Cpathogenic3319085(-) CCATGA/G/TGCATG 6 S G C mis10--------
    rs345711561,2
    		C,F,--3305277(+) AACAAC/AACTCT 2 -- ds50014Minor allele frequency- A:0.19NA WA 244
    rs99130281,2
    		C,F,A,H,--3305679(+) GAATGT/GCAATA 2 -- ut315Minor allele frequency- G:0.28NA CSA WA 246
    rs99124481,2
    		C,F,--3306662(+) GATACG/AGCTTT 2 -- ut31 ese34Minor allele frequency- A:0.27NA CSA WA 242
    rs790312781,2
    		F,--3306741(+) TAGTGT/AGGAGC 2 -- ut311Minor allele frequency- A:0.05WA 118
    rs764566401,2
    		F,--3306965(+) GGATTC/GTGTTG 2 -- ut311Minor allele frequency- G:0.11NA 120
    rs93031771,2
    		C,A,--3307189(+) CCCCAA/GTCGGC 2 -- ut314Minor allele frequency- G:0.28NA WA 242
    rs739777501,2
    		C,--3307330(+) TCTATC/TGCCAT 2 -- ut312Minor allele frequency- T:0.05WA 120
    rs558756491,2
    		C,--3307805(+) CCAGCA/TCACAG 2 -- ut313Minor allele frequency- T:0.24CSA WA NA 239
    rs1136021261,2
    		--3308949(+) TCCCTC/TTTGTC 2 -- int11Minor allele frequency- T:0.50CSA 2

    HapMap Linkage Disequilibrium report for TRPV3 (3413796 - 3461289 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TRPV3: --
    Human Gene Mutation Database (HGMD): TRPV3

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for TRPV3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    TRPV3 for disorders           About GeneDecksing

    OMIM gene information: 607066    OMIM disorders: --

    UniProtKB/Swiss-Prot: TRPV3_HUMAN, Q8NET8
  • Defects in TRPV3 are the cause of 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

    9 diseases for TRPV3:    About MalaCards
    dentin sensitivity    neuronitis    diabetic neuropathy    neuropathy
    hepatoblastoma    dermatitis    prostate cancer    prostatitis
    olmsted syndrome

    1 disease from the University of Copenhagen DISEASES database for TRPV3:
    Dentin sensitivity

    Export disorders for TRPV3 gene to outside databases

    Publications
    for TRPV3 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TRPV3 gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with TRPV3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. TRPV3 is a temperature-sensitive vanilloid receptor-like protein. (PubMed id 12077606)1, 2, 3 Smith G.D.... Davis J.B. (2002)
    2. Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. (PubMed id 22405088)1, 2 Lin Z.... Yang Y. (2012)
    3. International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels. (PubMed id 16382100)1, 3 Clapham D.E....Schultz G. (2005)
    4. TRPV3 is a calcium-permeable temperature-sensitive cation channel. (PubMed id 12077604)1, 2 Xu H....Clapham D.E. (2002)
    5. A heat-sensitive TRP channel expressed in keratinocytes. (PubMed id 12016205)1, 3 Peier A.M....Patapoutian A. (2002)
    6. Differential regulation of TRPV1, TRPV3, and TRPV4 se nsitivity through a conserved binding site on the ankyrin repeat domain. (PubMed id 19864432)1, 9 Phelps C.B....Gaudet R. (2010)
    7. Quantitative Real-Time PCR detection of TRPV1-4 gene expression in human leukocytes from healthy and hyposensitive subjects. (PubMed id 18983665)1, 9 Spinsanti G....Aloisi A.M. (2008)
    8. Shotgun proteomics and network analysis of ubiquitin-r elated proteins from human breast carcinoma epithelial cells. (PubMed id 21853274)1 Zhou J....Liang S. (2012)
    9. TRPV3 as a therapeutic target for itch. (PubMed id 22475759)1 Yamamoto-Kasai E....Yoshioka T. (2012)
    10. SNP variants within the vanilloid TRPV1 and TRPV3 rece ptor genes are associated with migraine in the Spanish population. (PubMed id 22162417)1 Carreno O....Macaya A. (2012)

    External Searches for TRPV3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing TRPV3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 162514 HGNC: 18084 AceView: TRPV3 Ensembl:ENSG00000167723 euGenes: HUgn162514
    ECgene: TRPV3 H-InvDB: TRPV3

    Other Databases showing TRPV3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TRPV3 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TRPV3 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for TRPV3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for TRPV3 gene:
    Search GeneIP for patents involving TRPV3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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