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TRPV3 Gene

protein-coding   GIFtS: 60
GCID: GC17M003413

Transient Receptor Potential Cation Channel, Subfamily V,...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Transient Receptor Potential Cation Channel, Subfamily V, Member 31 2     VRL32
Vanilloid Receptor-Like 32 3     Transient Receptor Potential Cation Channel Subfamily V Member 32
VRL-32 3     Vanilloid Receptor-Related Osmotically Activated Channel Protein2
OLMS2 5     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 GC17M003363 GC17M003308


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, mutilating, with periorificial keratotic plaques, and olmsted syndrome. GO annotations related to this gene include calcium channel activity. An important paralog of this gene is TRPV5.

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 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 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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NC_018928.2  NT_010718.17  
Regulatory elements:
   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 plasmidTRPV3 promoter sequence
   Search Chromatin IP Primers for TRPV3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC17M003413:  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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
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

Explore proteomics data for TRPV3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TRPV3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000371338   ENSP00000460856   ENSP00000301365   ENSP00000458187   ENSP00000458239  
     ENSP00000461518   ENSP00000460215  
    Reactome Protein details: Q8NET8

    TRPV3 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for TRPV3

    TRPV3 Antibody Products:

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    Cloud-Clone Corp. CLIAs for TRPV3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TRP: Voltage-gated ion channels / Transient receptor potential cation channels
    ANKRD: Ankyrin repeat domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: TRPV3
    Transient Receptor Potential channels

    Selected InterPro protein domains (see all 6):
     IPR024862 TRPV
     IPR008347 TRPV1-4_channel
     IPR005821 Ion_trans_dom
     IPR002110 Ankyrin_rpt
     IPR020683 Ankyrin_rpt-contain_dom

    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


    TRPV3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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)

         Gene Ontology (GO): 4 molecular function terms:    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


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

         3 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Trpv3):
     behavior/neurological  immune system  integument 

    TRPV3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TRPV3: Trpv3tm1.2Clph Trpv3tm1Apat

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TRPV3
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    miRTarBase miRNAs that target TRPV3:
    hsa-mir-124-3p (MIRT022738)

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    4 qRT-PCR Assays for microRNAs that regulate TRPV3:
    hsa-miR-203 hsa-miR-1298 hsa-miR-1184 hsa-miR-590-3p
    SwitchGear 3'UTR luciferase reporter plasmidTRPV3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TRPV3

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TRPV3_HUMAN, Q8NET8: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    extracellular1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0043235receptor complex IDA--

    TRPV3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for TRPV3 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.58
    Stimuli-sensing channels0.58
    2CREB Pathway
    Intracellular Calcium Signaling0.50
    3Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    4Development Endothelin 1 EDNRA signaling
    Inflammatory mediator regulation of TRP channels0.37
    5TRP channels
    TRP channels

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

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

    1 Reactome Pathway for TRPV3
        TRP channels


    1 Kegg Pathway  (Kegg details for TRPV3):
        Inflammatory mediator regulation of TRP channels


    TRPV3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including TRPV3: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for TRPV3

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009266response to temperature stimulus ----
    GO:0009408response to heat IEA--
    GO:0034220ion transmembrane transport TAS--
    GO:0042636negative regulation of hair cycle IMP--
    GO:0055085transmembrane transport TAS--

    TRPV3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for TRPV3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    HC 067047Potent and selective TRPV4 antagonist[883031-03-6]
    5'-Iodoresiniferatoxin Potent, silent TRPV1 antagonist [535974-91-5]
    CapsazepineVanilloid receptor antagonist. Also activator of ENaCdelta[138977-28-3]
    AMG 9810 Potent and selective, competitive antagonist of TRPV1 [545395-94-6]
    AnandamideEndogenous CB receptor agonist[94421-68-8]

    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

    Selected IUPHAR Ligands for TRPV3 (TRPV3) (see all 11)    About this table
    LigandTypeActionAffinityPubmed IDs
    6-tert-butyl-m-cresol
    ActivatorNone--
    diphenyltetrahydrofuran
    Channel blockerNone--
    carvacrol
    ActivatorNone--
    camphor
    ActivatorNone--
    menthol
    ActivatorNone--
    thymol
    ActivatorNone--
    eugenol
    ActivatorNone--
    incensole acetate
    ActivatorNone--
    ruthenium red
    Channel blockerNone--
    diphenylboronic anhydride
    ActivatorNone--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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 plasmidTRPV3 3' UTR sequence
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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 26):

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

    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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TRPV3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGTGCCAT
    TRPV3 Expression
    About this image

    TRPV3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TRPV3 Protein Expression

    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)

        Pathway & Disease-focused RT2 Profiler PCR Array including TRPV3: 
              Neuronal Ion Channels in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRPV3

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for TRPV3 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Trpv31 , 5 transient receptor potential cation channel, subfamily more1, 5 88.14(n)1
    93.16(a)1
      11 (45.25 cM)5
    2467881  NM_145099.21  NP_659567.21 
     732673885 
    chicken
    (Gallus gallus)
    Aves TRPV31 transient receptor potential cation channel, subfamily more 67.82(n)
    72.47(a)
      771945  XM_004946675.1  XP_004946732.1 
    lizard
    (Anolis carolinensis)
    Reptilia TRPV36
    transient receptor potential cation channel, subfa...
    71(a)
    1 ↔ 1
    AAWZ02038341(930-8205)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia trpv31 transient receptor potential vanilloid 3 61.21(n)
    62.65(a)
      100487056  NM_001256289.1  NP_001243218.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta nan6
    iav6
    inactive
    18(a)
    13(a)
    many ↔ many
    many ↔ many
    3L(14179349-14182748)
    X(6708151-6712189)
    worm
    (Caenorhabditis elegans)
    Secernentea ocr-46
    ocr-26
    (see all 5)
    Protein OCR-2 (ocr-2) mRNA, complete cds
    (see all 5)
    20(a)
    17(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    IV(7329620-7332811) WBGene00003841
    IV(8213826-8220036) WBGene00003839


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    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



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TRPV3 (see all 1501)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1994737051,2,,4
    COlmsted syndrome (OLMS)4 pathogenic13410731(-) GCATCG/TGGCGC 4 G W mis10--------
    rs1994737041,2,,4
    COlmsted syndrome (OLMS)4 pathogenic13416359(-) CCATGA/G/TGCATG 6 S G C mis10--------
    rs58188981,2
    C--3307164(+) GCCTCG/ACACAC 2 -- ut311Minor allele frequency- A:0.00NA 2
    rs1487224461,2
    C--3314872(+) TGGAT-/GGAC  
            
    GGATA
    2 -- int10--------
    rs72149111,2
    C,F,A--3324637(+) AGACCT/CCCCGC 2 -- int12Minor allele frequency- C:0.25NA WA 4
    rs72090051,2
    C,F--3324641(+) CTCCCG/ACCCAC 2 -- int13Minor allele frequency- A:0.17NA WA 6
    rs1930554871,2
    --3402276(+) GATGGC/TAGTTT 2 -- ds50010--------
    rs1855654281,2
    --3402367(+) CCTGGA/GCACAT 2 -- ds50010--------
    rs80676511,2
    C,F,H--3402385(+) AGCCCC/GTGAGT 2 -- ds500124Minor allele frequency- G:0.12NS EA NA WA CSA 1774
    rs126027391,2
    C,F,H--3402402(+) TTATTC/GAAACT 2 -- ds500123Minor allele frequency- G:0.13NS EA NA WA CSA 1652

    HapMap Linkage Disequilibrium report for TRPV3 (3413796 - 3461289 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TRPV3 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2660206CNV Deletion23128226
    esv2665707CNV Deletion23128226
    esv1041981CNV Insertion17803354
    dgv3042n71CNV Loss21882294
    nsv833341CNV Loss17160897
    nsv526538CNV Loss19592680
    nsv907553CNV Loss21882294
    nsv907565CNV Loss21882294
    nsv527923CNV Loss19592680
    nsv526175CNV Gain19592680

    Human Gene Mutation Database (HGMD): TRPV3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TRPV3
    DNA2.0 Custom Variant and Variant Library Synthesis for TRPV3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607066   
    OMIM disorders: 614594  
    UniProtKB/Swiss-Prot: TRPV3_HUMAN, Q8NET8
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 16 diseases for TRPV3:    
    About MalaCards
    palmoplantar keratoderma, mutilating, with periorificial keratotic plaques    olmsted syndrome    dentin sensitivity    keratoderma
    diabetic neuropathy    hepatoblastoma    alopecia    migraine
    neuropathy    dermatitis    neuronitis    squamous cell carcinoma
    prostate cancer    prostatitis    multiple myeloma    myeloma

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

    TRPV3 for disorders           About GeneDecksing


    Export disorders for TRPV3 gene to outside databases

    (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

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    PubMed articles for TRPV3 gene, integrated from 10 sources (see all 30):
    (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. (Nature 2002)
    2. Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. (PubMed id 22405088)1, 2 Lin Z.... Yang Y. (Am. J. Hum. Genet. 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. (Pharmacol. Rev. 2005)
    4. TRPV3 is a calcium-permeable temperature-sensitive cation channel. (PubMed id 12077604)1, 2 Xu H....Clapham D.E. (Nature 2002)
    5. A heat-sensitive TRP channel expressed in keratinocytes. (PubMed id 12016205)1, 3 Peier A.M....Patapoutian A. (Science 2002)
    6. Differential regulation of TRPV1, TRPV3, and TRPV4 sensitivity through a conserved binding site on the ankyrin repeat domain. (PubMed id 19864432)1, 9 Phelps C.B....Gaudet R. (J. Biol. Chem. 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. (Mol Pain 2008)
    8. TRPV3: a 'more than skinny' channel. (PubMed id 23800054)1 Nilius B. and BA-rA^ T. (Exp. Dermatol. 2013)
    9. Olmsted syndrome: exploration of the immunological phenotype. (PubMed id 23692804)1 Danso-Abeam D....Liston A. (Orphanet J Rare Dis 2013)
    10. Shotgun proteomics and network analysis of ubiquitin-related proteins from human breast carcinoma epithelial cells. (PubMed id 21853274)1 Zhou J....Liang S. (Mol. Cell. Biochem. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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