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TRPV4 Gene

protein-coding   GIFtS: 66
GCID: GC12M110220

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 41 2     SMAL2 5
VROAC2 3 5     SPSMA2 5
Osmosensitive Transient Receptor Potential Channel 41 2     SSQTL12 5
Osm-9-Like TRP Channel 42 3     OSM9-Like Transient Receptor Potential Channel 42
Transient Receptor Potential Protein 122 3     Transient Receptor Potential Cation Channel Subfamily V Member 42
Vanilloid Receptor-Like Channel 22 3     Vanilloid Receptor-Related Osmotically Activated Channel2
OTRPC42 3     TrpV43
TRP122 3     VR-OAC3
VRL22 3     VRL-23
CMT2C2 5     Vanilloid Receptor-Like Protein 23
HMSN2C2 5     Vanilloid Receptor-Related Osmotically-Activated Channel3

External Ids:    HGNC: 180831   Entrez Gene: 593412   Ensembl: ENSG000001111997   OMIM: 6054275   UniProtKB: Q9HBA03   

Export aliases for TRPV4 gene to outside databases

Previous GC identifers: GC12M109279 GC12M110059 GC12M108683 GC12M107238


(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 TRPV4 Gene:
This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the
transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable,
nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure.
Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and
sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Apr 2010)

GeneCards Summary for TRPV4 Gene:
TRPV4 (transient receptor potential cation channel, subfamily V, member 4) is a protein-coding gene. Diseases associated with TRPV4 include brachyolmia type 3, and parastremmatic dwarfism. GO annotations related to this gene include actin binding and calmodulin binding. An important paralog of this gene is TRPV5.

UniProtKB/Swiss-Prot: TRPV4_HUMAN, Q9HBA0
Function: Non-selective calcium permeant cation channel probably involved in osmotic sensitivity and
mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward
rectification. Also activated by low pH, citrate and phorbol esters. Increase of intracellular Ca(2+) potentiates
currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback
mechanism. Promotes cell-cell junction formation in skin keratinocytes and plays an important role in the
formation and/or maintenance of functional intercellular barriers. Acts as a regulator of intracellular Ca(2+) in
synoviocytes. Plays an obligatory role as a molecular component in the nonselective cation channel activation
induced by 4-alpha-phorbol 12,13-didecanoate and hypotonic stimulation in synoviocytes and also regulates
production of IL-8

summary for TRPV4 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 TRPV4 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_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TRPV4 gene promoter:
         TBP   Spz1   RP58   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   AP-4   POU3F2   Nkx6-1   TFIID   HSF2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTRPV4 promoter sequence
   Search Chromatin IP Primers for TRPV4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TRPV4


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

Entrez Gene cytogenetic band: 12q24.1   Ensembl cytogenetic band:  12q24.11   HGNC cytogenetic band: 12q24.1

TRPV4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TRPV4 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M110220:  view genomic region     (about GC identifiers)

Start:
110,220,890 bp from pter      End:
110,271,212 bp from pter
Size:
50,323 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: TRPV4_HUMAN, Q9HBA0 (See protein sequence)
Recommended Name: Transient receptor potential cation channel subfamily V member 4  
Size: 871 amino acids; 98281 Da
Subunit: Homotetramer (Probable). Self-associates in a isoform-specific manner. Isoforms 1/A and 5/D but not
isoform 2/B, 4/C and 6/E can oligomerize. Interacts with calmodulin. Interacts with Map7 and Src family Tyr
protein kinases LYN, SRC, FYN, HCK, LCK and YES. Interacts with CTNNB1. The TRPV4 and CTNNB1 complex can interact
with CDH1. Interacts with PACSIN1, PACSIN2 and PACSIN3 (via SH3 domain) (By similarity). Part of a complex
containing MLC1, AQP4, HEPACAM and ATP1B1
2 PDB 3D structures from and Proteopedia for TRPV4:
4DX1 (3D)        4DX2 (3D)    
Secondary accessions: B7ZKQ6 Q17R79 Q2Y122 Q2Y123 Q2Y124 Q86YZ6 Q8NDY7 Q8NG64 Q96Q92 Q96RS7
Q9HBC0
Alternative splicing: 6 isoforms:  Q9HBA0-1   Q9HBA0-2   Q9HBA0-3   Q9HBA0-4   Q9HBA0-5   Q9HBA0-6   

Explore the universe of human proteins at neXtProt for TRPV4: NX_Q9HBA0

Explore proteomics data for TRPV4 at MOPED

Post-translational modifications: 

  • Phosphorylation results in enhancement of its channel function1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TRPV4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001170899.1  NP_001170902.1  NP_001170904.1  NP_067638.3  NP_671737.1  

    ENSEMBL proteins: 
     ENSP00000406191   ENSP00000261740   ENSP00000437449   ENSP00000443611   ENSP00000442738  
     ENSP00000442167   ENSP00000444336   ENSP00000376480   ENSP00000319003  
    Reactome Protein details: Q9HBA0

    TRPV4 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for TRPV4
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    Novus Biologicals TRPV4 Lysates
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    Cloud-Clone Corp. Proteins for TRPV4

    TRPV4 Antibody Products:

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    TRPV4 Assay Products:

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    Cloud-Clone Corp. ELISAs for TRPV4
    Cloud-Clone Corp. CLIAs for TRPV4


    (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: TRPV4
    Transient Receptor Potential channels

    Selected InterPro protein domains (see all 7):
     IPR024862 TRPV
     IPR008348 TRPV4_channel
     IPR008347 TRPV1-4_channel
     IPR005821 Ion_trans_dom
     IPR004729 TRP_channel

    Graphical View of Domain Structure for InterPro Entry Q9HBA0

    ProtoNet protein and cluster: Q9HBA0

    1 Blocks protein domain: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: TRPV4_HUMAN, Q9HBA0
    Similarity: Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV4 sub-subfamily
    Similarity: Contains 3 ANK repeats


    TRPV4 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: TRPV4_HUMAN, Q9HBA0
    Function: Non-selective calcium permeant cation channel probably involved in osmotic sensitivity and
    mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward
    rectification. Also activated by low pH, citrate and phorbol esters. Increase of intracellular Ca(2+) potentiates
    currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback
    mechanism. Promotes cell-cell junction formation in skin keratinocytes and plays an important role in the
    formation and/or maintenance of functional intercellular barriers. Acts as a regulator of intracellular Ca(2+) in
    synoviocytes. Plays an obligatory role as a molecular component in the nonselective cation channel activation
    induced by 4-alpha-phorbol 12,13-didecanoate and hypotonic stimulation in synoviocytes and also regulates
    production of IL-8

         Gene Ontology (GO): Selected molecular function terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding ISS--
    GO:0005034osmosensor activity IEA--
    GO:0005080protein kinase C binding ISS--
    GO:0005216ion channel activity ----
    GO:0005261cation channel activity IDA12724311
         
    TRPV4 for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Trpv4):
     behavior/neurological  cardiovascular system  hearing/vestibular/ear  homeostasis/metabolism  integument 
     muscle  nervous system  renal/urinary system  respiratory system 

    TRPV4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TRPV4: Trpv4tm1Rck Trpv4tm1Lex Trpv4tm1Msz

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TRPV4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TRPV4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TRPV4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TRPV4

    miRNA
    Products:
        
    miRTarBase miRNAs that target TRPV4:
    hsa-mir-335-5p (MIRT018474)

    Block miRNA regulation of human, mouse, rat TRPV4 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate TRPV4:
    hsa-miR-4324 hsa-miR-203 hsa-miR-544b hsa-miR-2278 hsa-miR-378*
    SwitchGear 3'UTR luciferase reporter plasmidTRPV4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TRPV4
    Predesigned siRNA for gene silencing in human, mouse, rat TRPV4

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for TRPV4

    Clone
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    OriGene ORF clones in mouse, rat for TRPV4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): TRPV4 (NM_147204)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TRPV4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TRPV4

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRPV4


    (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
    TRPV4_HUMAN, Q9HBA0: Cell membrane; Multi-pass membrane protein (By similarity). Cell junction, adherens junction
    (By similarity). Note=Assembly of the putative homotetramer occurs primarily in the endoplasmic reticulum
    TRPV4_HUMAN, Q9HBA0: Isoform 1: Cell membrane
    TRPV4_HUMAN, Q9HBA0: Isoform 5: Cell membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton3
    extracellular2
    endoplasmic reticulum1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005881colocalizes with cytoplasmic microtubule ISS--
    GO:0005886plasma membrane TAS--
    GO:0005912adherens junction ISS--
    GO:0005925focal adhesion ISS--
    GO:0005929cilium IEA--

    TRPV4 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 TRPV4 About   (see all 6)  
    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 TRPV4
        Intracellular Calcium Signaling

    1 Reactome Pathway for TRPV4
        TRP channels


    1 Kegg Pathway  (Kegg details for TRPV4):
        Inflammatory mediator regulation of TRP channels


    TRPV4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TRPV4: 
              Neuronal Ion Channels in human mouse rat
              Osmotic Stress in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TRPV4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TRPV4 (Q9HBA02, 3 ENSP000002617404) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIF1ANQ9NWT62, 3, ENSP000002991634MINT-8085038 I2D: score=1 STRING: ENSP00000299163
    CALM1P621583, ENSP000003494674I2D: score=1 STRING: ENSP00000349467
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    FYNP062413, ENSP000003576564I2D: score=2 STRING: ENSP00000357656
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 27):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0006816calcium ion transport NAS11025659
    GO:0006874cellular calcium ion homeostasis IDA12724311
    GO:0006884cell volume homeostasis TAS12724311
    GO:0006970response to osmotic stress ----

    TRPV4 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 TRPV4
      Browse compounds at ApexBio 

    Compounds for TRPV4 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]

    1 HMDB Compound for TRPV4    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Selected IUPHAR Ligands for TRPV4 (TRPV4) (see all 11)    About this table
    LigandTypeActionAffinityPubmed IDs
    GSK1016790A
    ActivatorNone8.718499743
    HC067047
    Channel blockerNone7.820956320
    RN1747
    ActivatorNone6.119737537
    RN1734
    Channel blockerNone5.619737537
    Gd3+
    Channel blockerNone5.6--
    4alpha-PDD
    ActivatorNone5.6--
    La3+
    Channel blockerNone5.6--
    4alpha-PDH
    ActivatorNone5.6--
    ruthenium red
    Channel blockerNone5.6--
    bisandrographolide
    ActivatorNone5.6--

    Selected Novoseek inferred chemical compound relationships for TRPV4 gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    4alpha-phorbol 12,13-didecanoate 92.7 41 17341586 (3), 15075247 (2), 19759329 (2), 11827975 (2) (see all 12)
    ruthenium 79.6 9 12093812 (1), 15075247 (1), 17068482 (1), 19411839 (1) (see all 6)
    capsaicin 67 3 19361196 (1), 19695100 (1), 17521436 (1)
    resiniferatoxin 61.3 1 19695100 (1)
    arachidonic acid 56.6 5 14691263 (2), 16269659 (1), 12879072 (1), 17233610 (1)
    phorbol 55.1 9 11827975 (2), 19361196 (1), 12970074 (1)
    calcium 53.2 41 12724311 (6), 12765694 (3), 16269659 (2), 19695100 (2) (see all 20)
    sodium 9.66 2 16901942 (1)
    nitric oxide 0 2 16998480 (1)
    tyrosine 0 18 19033444 (8), 18234883 (2), 14691263 (1), 17341586 (1)



    TRPV4 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,
    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 )
    About This Section

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    REFSEQ mRNAs for TRPV4 gene (5 alternative transcripts): 
    NM_001177428.1  NM_001177431.1  NM_001177433.1  NM_021625.4  NM_147204.2  

    Unigene Cluster for TRPV4:

    Transient receptor potential cation channel, subfamily V, member 4
    Hs.506713  [show with all ESTs]
    Unigene Representative Sequence: AB032427
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000418703(uc001tpj.2) ENST00000261740(uc001tpg.2 uc021rdp.1 uc001tph.2 uc001tpi.2 uc001tpk.2)
    ENST00000538125 ENST00000544971 ENST00000537083 ENST00000541794 ENST00000536838
    ENST00000536570 ENST00000392719 ENST00000346520
    miRNA
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    hsa-miR-4324 hsa-miR-203 hsa-miR-544b hsa-miR-2278 hsa-miR-378*
    SwitchGear 3'UTR luciferase reporter plasmidTRPV4 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 5): TRPV4 (NM_147204)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TRPV4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TRPV4
    Primer
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    OriGene qPCR primer pairs and template standards for TRPV4
    OriGene qSTAR qPCR primer pairs in human, mouse for TRPV4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TRPV4
      QuantiTect SYBR Green Assays in human, mouse, rat TRPV4
      QuantiFast Probe-based Assays in human, mouse, rat TRPV4

    Additional mRNA sequence: 

    AB032427.1 AB073669.1 AB100308.1 AF258465.1 AF263523.1 AF279673.1 AJ296305.1 AL834192.1 
    BC117426.1 BC143307.1 BC143315.1 DQ059644.1 DQ059645.1 DQ059646.1 

    5 DOTS entries:

    DT.407967  DT.100754787  DT.100035712  DT.100754786  DT.121198978 

    Selected AceView cDNA sequences (see all 55):

    CD106001 NM_021625 NM_147204 AF258465 AI570878 AJ296305 BQ183529 AB032427 
    AF279673 AI674479 CD370593 BQ026834 BQ010629 BU621358 CA418523 BX431394 
    AI628358 BE501693 BM982161 BX280735 AB100308 BG761763 AL834192 AW207400 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TRPV4 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b
    SP1:                                      -                                                                                                   
    SP2:        -     -     -                                                                                                                     
    SP3:                                                                                                                                          
    SP4:                                                                          -                                                               
    SP5:                                                              -                                                                           


    ECgene alternative splicing isoforms for TRPV4

    (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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    TRPV4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTTCTGTGT
    TRPV4 Expression
    About this image


    TRPV4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             Chondrocytes Zeugopod Epiphyseal End
             Zeugopod Growth Plate
             HyStem+BMP4-induced 4D20.8 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             Mesenchymal Condensate Cells Zeugopod
             Meckel's Cartilage
             HyStem+BMP4-induced 4D20.8 cells
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Kidney (Urinary System)
             Ureteric Bud
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
    TRPV4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TRPV4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.506713

    UniProtKB/Swiss-Prot: TRPV4_HUMAN, Q9HBA0
    Tissue specificity: Found in the synoviocytes from patients with (RA) and without (CTR) rheumatoid arthritis (at
    protein level)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TRPV4: 
              Neuronal Ion Channels in human mouse rat
              Osmotic Stress in human mouse rat

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    (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 TRPV4 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Trpv41 , 5 transient receptor potential cation channel, subfamily V, member 4 less1, 5 88.37(n)1
    95.29(a)1
      5 (55.99 cM)5
    638731  NM_022017.31  NP_071300.21 
     1146221525 
    chicken
    (Gallus gallus)
    Aves TRPV41 transient receptor potential cation channel, subfamily V, member 4 less 81.31(n)
    85.6(a)
      395427  NM_204692.1  NP_990023.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.163182 Transcribed sequence with moderate similarity to protein refNP_067638.2 (H.sapiens) vanilloid receptor-related osmotically activated channel; transient receptor potential, drosophila, homolog of, 12; OSM9-like transient receptor potential channel 4; tra less 77.75(n)    AL858835.2 
    zebrafish
    (Danio rerio)
    Actinopterygii wufp52e022 wufp52e02 75.75(n)   386835  BI476124.1 
    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 osm-93 olfacory channel 26(a)   IV(3551152-3557432)   --


    ENSEMBL Gene Tree for TRPV4 (if available)
    TreeFam Gene Tree for TRPV4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TRPV4 gene
    TRPV52  TRPV62  TRPV32  TRPV12  TRPV22  
    4 SIMAP similar genes for TRPV4 using alignment to 2 protein entries:     TRPV4_HUMAN (see all proteins):
    TRPV1    TRPV2    TRPV3    TRPV5

    TRPV4 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TRPV4
    PGOHUM00000239575


    (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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    TRPV4_HUMAN, Q9HBA0: Genetic variations in TRPV4 determine the sodium serum level quantitative trait locus 1 (SSQTL1)
    [MIM:613508]. In some populations, variant Pro19Ser has been shown to be significantly associated with
    hyponatremia defined as serum sodium concentration below or equal to 135 mEq/L


    Selected SNPs for TRPV4 (see all 1242)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0684984
    Digital arthropathy-brachydactyly, familial (FDAB)4--see VAR_0684982 G V mis40--------
    VAR_0679894
    Distal spinal muscular atrophy, congenital non-progressive (DSMAC)4--see VAR_0679892 P R mis40--------
    VAR_0645314
    Metatropic dysplasia (MTD)4--see VAR_0645312 F L mis40--------
    VAR_0645234
    Metatropic dysplasia (MTD)4--see VAR_0645232 I T mis40--------
    VAR_0623344
    Spondylometaphyseal dysplasia Kozlowski type (SMDK)4--see VAR_0623342 A S mis40--------
    VAR_0645364
    Spondylometaphyseal dysplasia Kozlowski type (SMDK)4--see VAR_0645362 C Y mis40--------
    VAR_0645174
    Metatropic dysplasia (MTD)4--see VAR_0645172 T I mis40--------
    VAR_0623314
    Metatropic dysplasia (MTD)4--see VAR_0623312 I F mis40--------
    VAR_0645354
    Metatropic dysplasia (MTD)4--see VAR_0645352 R K mis40--------
    VAR_0684994
    Digital arthropathy-brachydactyly, familial (FDAB)4--see VAR_0684992 R P mis40--------

    HapMap Linkage Disequilibrium report for TRPV4 (110220890 - 110271212 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TRPV4: --
    Human Gene Mutation Database (HGMD): TRPV4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TRPV4
    DNA2.0 Custom Variant and Variant Library Synthesis for TRPV4

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

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    OMIM gene information: 605427   
    OMIM disorders: 113500  184252  156530  606071  181405  613508  168400  184095  600175  606835  
    UniProtKB/Swiss-Prot: TRPV4_HUMAN, Q9HBA0
  • Brachyolmia 3 (BRAC3) [MIM:113500]: A form of brachyolmia, a clinically and genetically heterogeneous
    skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and
    platyspondyly without significant epiphyseal or metaphyseal changes in the long bones. BRAC3 is an autosomal
    dominant form with severe scoliosis with or without kyphosis, and flattened irregular cervical vertebrae.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]: A form of spondylometaphyseal
    dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses
    of the tubular bones. It is characterized by postnatal dwarfism, significant scoliosis and mild metaphyseal
    abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overfaced pedicles. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Metatropic dysplasia (MTD) [MIM:156530]: A severe spondyloepimetaphyseal dysplasia characterized by short
    limbs with limitation and enlargement of joints and usually severe kyphoscoliosis. Radiologic features include
    severe platyspondyly, severe metaphyseal enlargement and shortening of long bones. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Distal spinal muscular atrophy, congenital non-progressive (DSMAC) [MIM:600175]: A clinically variable,
    neuromuscular disorder characterized by congenital lower motor neuron disorder restricted to the lower part of
    the body. Clinical manifestations include non-progressive muscular atrophy, thigh muscle atrophy, weak thigh
    adductors, weak knee and foot extensors, minimal jaw muscle and neck flexor weakness, flexion contractures of
    knees and pes equinovarus. Tendon reflexes are normal. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Charcot-Marie-Tooth disease 2C (CMT2C) [MIM:606071]: An axonal form of Charcot-Marie-Tooth disease, a
    disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the
    peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two
    main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating
    neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies
    (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of
    obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle
    weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Scapuloperoneal spinal muscular atrophy (SPSMA) [MIM:181405]: A clinically variable neuromuscular
    disorder characterized by neurogenic scapuloperoneal amyotrophy, laryngeal palsy, congenital absence of muscles,
    progressive scapuloperoneal atrophy and progressive distal weakness and amyotrophy. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Spondyloepiphyseal dysplasia Maroteaux type (SEDM) [MIM:184095]: A clinically variable spondyloepiphyseal
    dysplasia with manifestations limited to the musculoskeletal system. Clinical features include short stature,
    brachydactyly, platyspondyly, short and stubby hands and feet, epiphyseal hypoplasia of the large joints, and
    iliac hypoplasia. Intelligence is normal. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Parastremmatic dwarfism (PSTD) [MIM:168400]: A bone dysplasia characterized by severe dwarfism,
    kyphoscoliosis, distortion and bowing of the extremities, and contractures of the large joints. Radiographically,
    the disease is characterized by a combination of decreased bone density, bowing of the long bones, platyspondyly
    and striking irregularities of endochondral ossification with areas of calcific stippling and streaking in
    radiolucent epiphyses, metaphyses and apophyses. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Digital arthropathy-brachydactyly, familial (FDAB) [MIM:606835]: A disorder characterized by
    irregularities in the proximal articular surfaces of the distal interphalangeal joints of the hand. Individuals
    appear normal at birth, with no clinical or radiographic evidence of a developmental skeletal dysplasia. The
    earliest changes appear during the first decade of life. By adulthood, all interphalangeal, metacarpophalangeal,
    and metatarsophalangeal joints are affected by a deforming, painful osteoarthritis. The remainder of the skeleton
    is clinically and radiographically unaffected. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for TRPV4 (see all 49):    
    About MalaCards
    brachyolmia type 3    parastremmatic dwarfism    amyotrophy, neurogenic scapuloperoneal, new england type    charcot-marie-tooth neuropathy type 2c
    spondyloepiphyseal dysplasia maroteaux type    metatropic dysplasia    motor peripheral neuropathy    spondylometaphyseal dysplasia kozlowski type
    charcot-marie-tooth neuropathy type 2    charcot-marie-tooth disease type 2c    distal congenital nonprogressive spinal muscular atrophy    digital arthropathy-brachydactyly, familial
    brachyolmia    progressive muscular atrophy    dentin sensitivity    megalencephalic leukoencephalopathy with subcortical cysts
    spinal muscular atrophy    axonal neuropathy    dwarfism    charcot-marie-tooth disease type 2

    4 diseases from the University of Copenhagen DISEASES database for TRPV4:
    Brachyolmia     Dentin sensitivity     Neuropathy     Muscular atrophy

    TRPV4 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for TRPV4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cmt2c 87.4 2 20037587 (2)
    charcot-marie-tooth disease 32.9 1 20037586 (1)
    inflammation 0 1 18234883 (1)

    Genetic Association Database (GAD): TRPV4
    Human Genome Epidemiology (HuGE) Navigator: TRPV4 (3 documents)

    Export disorders for TRPV4 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 TRPV4 gene, integrated from 10 sources (see all 178):
    (articles sorted by number of sources associating them with TRPV4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarity. (PubMed id 11025659)1, 2, 3, 9 Strotmann R.... Plant T.D. (Nat. Cell Biol. 2000)
    2. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. (PubMed id 20037587)1, 2, 3, 9 Deng H.X.... Siddique T. (Nat. Genet. 2010)
    3. A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia. (PubMed id 19666518)1, 2, 4, 9 Tian W.... Cohen D.M. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    4. Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptor. (PubMed id 11081638)1, 2, 3, 9 Liedtke W.B.... Heller S. (Cell 2000)
    5. Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. (PubMed id 20503319)1, 2, 9 Nishimura G....Superti-Furga A. (Am. J. Med. Genet. A 2010)
    6. Identification of a Protein Kinase C-dependent phosphorylation site involved in sensitization of TRPV4 channel. (PubMed id 20043876)1, 2, 9 Peng H....Wegierski T. (Biochem. Biophys. Res. Commun. 2010)
    7. Association of TRPV4 gene polymorphisms with chronic obstructive pulmonary disease. (PubMed id 19279160)1, 4, 9 Zhu G....Pillai S.G. (Hum. Mol. Genet. 2009)
    8. Ca2+-dependent potentiation of the nonselective cation channel TRPV4 is mediated by a C-terminal calmodulin binding site. (PubMed id 12724311)1, 2, 9 Strotmann R.... Plant T.D. (J. Biol. Chem. 2003)
    9. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. (PubMed id 20037588)1, 2, 9 Auer-Grumbach M.... Guelly C. (Nat. Genet. 2010)
    10. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. (PubMed id 20037586)1, 2, 9 Landoure G.... Sumner C.J. (Nat. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 59341 HGNC: 18083 AceView: TRPV4 Ensembl:ENSG00000111199 euGenes: HUgn59341
    ECgene: TRPV4 Kegg: 59341 H-InvDB: TRPV4

    (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 TRPV4 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 TRPV4 gene:
    Search GeneIP for patents involving TRPV4

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



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