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TRPV2 Gene

protein-coding   GIFtS: 61
GCID: GC17P016318

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 21 2     VRL-12 3
Osm-9-Like TRP Channel 22 3     VRL12 5
Vanilloid Receptor-Like Protein 12 3     Transient Receptor Potential Cation Channel Subfamily V Member 22
OTRPC22 3     TrpV23
VRL2 3     

External Ids:    HGNC: 180821   Entrez Gene: 513932   Ensembl: ENSG000001876887   OMIM: 6066765   UniProtKB: Q9Y5S13   

Export aliases for TRPV2 gene to outside databases

Previous GC identifers: GC17P016680 GC17P017429 GC17P016261 GC17P016519 GC17P016259 GC17P016186


(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 TRPV2 Gene:
This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protein may
be involved in transduction of high-temperature heat responses in sensory ganglia. It is thought that in other
tissues the channel may be activated by stimuli other than heat. (provided by RefSeq, Jul 2008)

GeneCards Summary for TRPV2 Gene:
TRPV2 (transient receptor potential cation channel, subfamily V, member 2) is a protein-coding gene. Diseases associated with TRPV2 include dermatographia, and dentin sensitivity. GO annotations related to this gene include ion channel activity and calcium channel activity. An important paralog of this gene is TRPV5.

UniProtKB/Swiss-Prot: TRPV2_HUMAN, Q9Y5S1
Function: Calcium-permeable, non-selective cation channel with an outward rectification. Seems to be regulated, at
least in part, by IGF-I, PDGF and neuropeptide head activator. May transduce physical stimuli in mast cells.
Activated by temperatures higher than 52 degrees Celsius; is not activated by vanilloids and acidic pH

summary for TRPV2 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 TRPV2 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  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TRPV2 gene promoter:
         NF-1/L   NF-1   AML1a   AP-1   p300   POU6F1 (c2)   HNF-1A   HNF-1   IRF-7A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTRPV2 promoter sequence
   Search Chromatin IP Primers for TRPV2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TRPV2


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

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

TRPV2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TRPV2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P016318:  view genomic region     (about GC identifiers)

Start:
16,318,856 bp from pter      End:
16,340,317 bp from pter
Size:
21,462 bases      Orientation:
plus 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TRPV2_HUMAN, Q9Y5S1 (See protein sequence)
Recommended Name: Transient receptor potential cation channel subfamily V member 2  
Size: 764 amino acids; 85981 Da
Subunit: Homotetramer (Probable). Interacts with a cAMP-dependent protein kinase type II regulatory subunit
(PRKAR2A or PRKAR2B) and ACBD3. Interacts with SLC50A1; the interaction probably occurs intracellularly and
depends on TRPV2 N-glycosylation (By similarity)
1 PDB 3D structure from and Proteopedia for TRPV2:
2F37 (3D)    
Secondary accessions: A6NML2 A8K0Z0 Q9Y670

Explore the universe of human proteins at neXtProt for TRPV2: NX_Q9Y5S1

Explore proteomics data for TRPV2 at MOPED

Post-translational modifications: 

  • N-glycosylated (By similarity)1
  • Phosphorylated by PKA (By similarity)1
  • Ubiquitination2 at Lys299, Lys327, Lys378
  • Glycosylation2 at Asn570
  • Modification sites at PhosphoSitePlus

  • See TRPV2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057197.2  
    ENSEMBL proteins: 
     ENSP00000342222   ENSP00000390014   ENSP00000464850   ENSP00000465609   ENSP00000466130  
     ENSP00000467593   ENSP00000463196  
    Reactome Protein details: Q9Y5S1

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    Cloud-Clone Corp. ELISAs for TRPV2
    Cloud-Clone Corp. CLIAs for TRPV2


    (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: TRPV2
    Transient Receptor Potential channels

    Selected InterPro protein domains (see all 7):
     IPR024862 TRPV
     IPR008347 TRPV1-4_channel
     IPR005821 Ion_trans_dom
     IPR004729 TRP_channel
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q9Y5S1

    ProtoNet protein and cluster: Q9Y5S1

    UniProtKB/Swiss-Prot: TRPV2_HUMAN, Q9Y5S1
    Similarity: Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV2 sub-subfamily
    Similarity: Contains 6 ANK repeats


    TRPV2 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: TRPV2_HUMAN, Q9Y5S1
    Function: Calcium-permeable, non-selective cation channel with an outward rectification. Seems to be regulated, at
    least in part, by IGF-I, PDGF and neuropeptide head activator. May transduce physical stimuli in mast cells.
    Activated by temperatures higher than 52 degrees Celsius; is not activated by vanilloids and acidic pH

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity TAS10201375
    GO:0005261cation channel activity IDA10201375
    GO:0005262calcium channel activity IEA--
    GO:0005515protein binding ----
    GO:0015075ion transmembrane transporter activity TAS10201375
         
    TRPV2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TRPV2:
     Upregulation of Wnt/beta-caten 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Trpv2):
     cellular  growth/size/body  hematopoietic system  immune system  mortality/aging 

    TRPV2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Trpv2tm1Mijc for TRPV2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TRPV2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TRPV2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TRPV2

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    hsa-miR-370
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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
    TRPV2_HUMAN, Q9Y5S1: Cell membrane; Multi-pass membrane protein (By similarity). Cytoplasm (By similarity).
    Melanosome. Note=Translocates from the cytoplasm to the plasma membrane upon ligand stimulation (By similarity).
    Identified by mass spectrometry in melanosome fractions from stage I to stage IV
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS10201375
    GO:0009986cell surface IEA--
    GO:0012505endomembrane system IEA--

    TRPV2 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 TRPV2 About    
    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 TRPV2
        Intracellular Calcium Signaling

    1 Reactome Pathway for TRPV2
        TRP channels


    1 Kegg Pathway  (Kegg details for TRPV2):
        Inflammatory mediator regulation of TRP channels


    TRPV2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including TRPV2: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TRPV2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for TRPV2 (Q9Y5S13 ENSP000003422224) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC50A1Q9BRV33, ENSP000003573894I2D: score=1 STRING: ENSP00000357389
    TRPV1Q8NER13, ENSP000001746214I2D: score=1 STRING: ENSP00000174621
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS10201375
    GO:0006811ion transport ----
    GO:0007600sensory perception TAS10201375
    GO:0009266response to temperature stimulus IDA10201375
    GO:0009408response to heat IEA--

    TRPV2 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
       Enzo Life Sciences drugs & compounds for TRPV2
      Browse compounds at ApexBio 

    Compounds for TRPV2 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 TRPV2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Cyclic AMPCyclic AMP (see all 19)60-92-4--

    9 IUPHAR Ligands for TRPV2 (TRPV2)    About this table
    LigandTypeActionAffinityPubmed IDs
    ruthenium red
    Channel blockerNone6.2--
    TRIM
    Channel blockerNone6.2--
    SKF96365
    Channel blockerNone6.2--
    amiloride
    Channel blockerNone6.2--
    Delta9-tetrahydrocannabinol
    ActivatorNone6.2--
    cannabidiol
    ActivatorNone6.2--
    La3+
    Channel blockerNone6.2--
    diphenylboronic anhydride
    ActivatorNone6.2--
    probenecid
    ActivatorNone6.2--

    2 Novoseek inferred chemical compound relationships for TRPV2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    capsaicin 70.6 2 10201375 (1), 14534154 (1)
    calcium 25.8 6 17154364 (2), 16533525 (2), 15249591 (1), 17673572 (1)



    TRPV2 for compounds           About GeneDecksing



    (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,
    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 TRPV2 gene: 
    NM_016113.4  

    Unigene Cluster for TRPV2:

    Transient receptor potential cation channel, subfamily V, member 2
    Hs.279746  [show with all ESTs]
    Unigene Representative Sequence: AK126996
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000338560(uc002gpy.3 uc002gpz.3) ENST00000455666 ENST00000583241
    ENST00000577277 ENST00000581560 ENST00000580788 ENST00000577865 ENST00000475513
    ENST00000493434 ENST00000577397
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    Additional mRNA sequence: 

    AF103906.1 AF129112.1 AJ487963.1 AK001896.1 AK092443.1 AK126996.1 AK289705.1 BC018926.2 
    BC051305.1 

    13 DOTS entries:

    DT.114670  DT.100785231  DT.95195429  DT.101966272  DT.313866  DT.120994192  DT.100785227  DT.100785232 
    DT.120994191  DT.95195422  DT.100734243  DT.120994189  DT.120994193 

    Selected AceView cDNA sequences (see all 210):

    AI126236 BQ064773 BC051305 BQ649665 BX283653 BC018926 BQ653113 AI126953 
    BQ652688 AA931978 BM007978 BI819175 AI433473 BQ679954 AA461295 AA121980 
    AI912253 AI917712 AA281349 BQ644271 BF436096 AW629658 AI754077 NM_016113 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TRPV2 (see all 9)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18
    SP1:                                                                                                        -                                                   
    SP2:                                                                                                                                                            
    SP3:                    -     -                                                                                                                                 
    SP4:                    -     -                                                                                                                                 
    SP5:                                                                                                                                                            


    ECgene alternative splicing isoforms for TRPV2

    (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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    TRPV2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAGCAGACG
    TRPV2 Expression
    About this image


    TRPV2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
     
     Fibroblasts
             Dermal Fibroblasts Dorsal Dermis
     
     Dermis (Integumentary System)
             Dermal Fibroblasts Dorsal Dermis
     
     Testis (Reproductive System)
    TRPV2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TRPV2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.279746
        Pathway & Disease-focused RT2 Profiler PCR Array including TRPV2: 
              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 TRPV2

    (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 TRPV2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Trpv21 , 5 transient receptor potential cation channel, subfamily more1, 5 82.05(n)1
    81.56(a)1
      11 (38.48 cM)5
    223681  NM_011706.21  NP_035836.21 
     625744865 
    chicken
    (Gallus gallus)
    Aves TRPV21 transient receptor potential cation channel, subfamily more 61.82(n)
    57.2(a)
      417603  XM_415848.4  XP_415848.2 
    lizard
    (Anolis carolinensis)
    Reptilia TRPV26
    transient receptor potential cation channel, subfa...
    51(a)
    1 ↔ 1
    AAWZ02039224(205-9121)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia trpv11 transient receptor potential cation channel, subfamily more 59.14(n)
    53.12(a)
      100487682  XM_004911685.1  XP_004911742.1 
    zebrafish
    (Danio rerio)
    Actinopterygii trpv16
    transient receptor potential cation channel, subfa...
    39(a)
    1 → many
    5(43754941-43777138) ENSDARG00000059883
    fruit fly
    (Drosophila melanogaster)
    Insecta nan6
    iav6
    inactive
    20(a)
    14(a)
    many ↔ many
    many ↔ many
    3L(14179349-14182748)
    X(6708151-6712189)
    worm
    (Caenorhabditis elegans)
    Secernentea ocr-46
    ocr-36
    (see all 5)
    Protein OCR-3 (ocr-3) mRNA, complete cds
    (see all 5)
    21(a)
    19(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    IV(7329620-7332811) WBGene00003841
    X(15168722-15173621) WBGene00003840


    ENSEMBL Gene Tree for TRPV2 (if available)
    TreeFam Gene Tree for TRPV2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TRPV2 gene
    TRPV52  TRPV62  TRPV32  TRPV12  TRPV42  
    5 SIMAP similar genes for TRPV2 using alignment to 7 protein entries:     TRPV2_HUMAN (see all proteins):
    FLJ00078    TRPV1    TRPV6    TRPV4    TRPV3

    TRPV2 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 TRPV2 (see all 663)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1414454281,2
    C--16316959(+) GAGGCA/GGAGGT 1 -- us2k10--------
    rs1133534501,2
    F--16316968(+) GTTGCG/AGCGAG 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1843811471,2
    --16316998(+) CTCCAA/GCCTGG 1 -- us2k10--------
    rs1392520951,2
    C--16317008(+) GGCAAA/CAAGAA 1 -- us2k10--------
    rs577287281,2
    C--16317045(+) AAAAAA/-GAAAG 1 -- us2k11Minor allele frequency- -:0.00NA 2
    rs1441252321,2
    --16317266(+) TCCCAA/GGTTTA 1 -- us2k10--------
    rs1473212931,2
    C--16317333(+) CGCCTA/GGCTAT 1 -- us2k10--------
    rs1409871411,2
    --16317363(+) AAATGG/TGGTTT 1 -- us2k10--------
    rs1448259361,2
    --16317393(+) GTCTCA/GAATTC 1 -- us2k10--------
    rs1900552201,2
    --16317414(+) GTGATC/TCACCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TRPV2 (16318856 - 16340317 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TRPV2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2715702CNV Deletion23290073

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TRPV2
    DNA2.0 Custom Variant and Variant Library Synthesis for TRPV2

    (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.)
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    OMIM gene information: 606676    OMIM disorders: --

    13 diseases for TRPV2:    
    About MalaCards
    dermatographia    dentin sensitivity    hepatoblastoma    kidney disease
    tonsillitis    cerebritis    asthma    hepatocellular carcinoma
    prostatitis    prostate cancer    thyroiditis    endotheliitis
    neuronitis

    1 disease from the University of Copenhagen DISEASES database for TRPV2:
    Dentin sensitivity

    TRPV2 for disorders           About GeneDecksing


    Export disorders for TRPV2 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)
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    PubMed articles for TRPV2 gene, integrated from 10 sources (see all 50):
    (articles sorted by number of sources associating them with TRPV2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A capsaicin-receptor homologue with a high threshold for noxious heat. (PubMed id 10201375)1, 2, 3, 9 Caterina M.J.... Julius D. (Nature 1999)
    2. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (J. Proteome Res. 2006)
    3. Crystal structure of the human TRPV2 channel ankyrin repeat domain. (PubMed id 16882997)1, 2 McCleverty C.J.... Kreusch A. (Protein Sci. 2006)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Clinical significance of transient receptor potential vanilloid 2 expression in human hepatocellular carcinoma. (PubMed id 20113837)1, 9 Liu G....Miao X. (Cancer Genet. Cytogenet. 2010)
    8. Expression of transient receptor potential vanilloid 1 (TRPV1) and 2 (TRPV2) in human peripheral blood. (PubMed id 16777226)1, 9 Saunders C.I....Geraghty D.P. (Mol. Immunol. 2007)
    9. Transient receptor potential vanilloid 1, vanilloid 2 and melastatin 8 immunoreactive nerve fibers in human skin from individuals with and without Norrbottnian congenital insensitivity to pain. (PubMed id 19482060)1, 9 Axelsson H.E....Zygmunt P.M. (Neuroscience 2009)
    10. Transient receptor potential vanilloid type 2 (TRPV2) expression in normal urothelium and in urothelial carcinoma of human bladder: correlation with the pathologic stage. (PubMed id 17977643)1, 9 Caprodossi S....Santoni G. (Eur. Urol. 2008)

    (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: 51393 HGNC: 18082 AceView: TRPV2.1 Ensembl:ENSG00000187688 euGenes: HUgn51393
    ECgene: TRPV2 Kegg: 51393 H-InvDB: TRPV2

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for TRPV2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TRPV2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TRPV2 gene:
    Search GeneIP for patents involving TRPV2

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



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