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

TRPV4 Gene

protein-coding   GIFtS: 60
GCID: GC12M110220

transient receptor potential cation channel, subfamily V,...
 Explore 46 diseases affiliated with
TRPV4 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TRPV4    

Aliases
for TRPV4 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Transient Receptor Potential Cation Channel, Subfamily V, Member 41 2     HMSN2C2 5
VROAC1 2 3 5     SPSMA2 5
OTRPC41 2 3     SSQTL12 5
TRP121 2 3     SMAL2
CMT2C1 2 5     OSM9-Like Transient Receptor Potential Channel 42
VR-OAC1 3     Osmosensitive Transient Receptor Potential Channel 42
VRL-21 3     Transient Receptor Potential Cation Channel Subfamily V Member 42
Osm-9-Like TRP Channel 42 3     Vanilloid Receptor-Related Osmotically Activated Channel2
Transient Receptor Potential Protein 122 3     TrpV43
Vanilloid Receptor-Like Channel 22 3     Vanilloid Receptor-Like Protein 23
VRL22 3     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


Summaries
for TRPV4 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for TRPV4:
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)

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:
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009775.17  
Regulatory elements:
   SABiosciences 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 plasmid: TRPV4 promoter sequence
   Search SABiosciences Chromatin IP Primers for TRPV4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for TRPV4 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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 (By
similarity). Part of a complex containing MLC1, AQP4, HEPACAM and ATP1B1
Subcellular location: 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
Subcellular location: Isoform 1: Cell membrane
Subcellular location: Isoform 5: Cell membrane
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

Post-translational modifications:

  • Phosphorylation results in enhancement of its channel function1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9HBA0

    • TRPV4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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  

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    Novus Biologicals TRPV4 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TRPV4

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

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


    TRPV4 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TRPV4

    Protein Domains /
    Families
    for TRPV4 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TRPV4 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR008348 TRPV4_channel
     IPR024862 TRPV_channel
     IPR008347 TRPV1-4_channel
     IPR020683 Ankyrin_rpt-contain_dom
     IPR005821 Ion_trans_dom

    Graphical View of Domain Structure for InterPro Entry Q9HBA0

    ProtoNet protein and cluster: Q9HBA0

    1 Blocks protein family: 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


    Function
    for TRPV4 gene

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

         UniProtKB/Swiss-Prot: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TRPV4
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    hsa-miR-4324 hsa-miR-203 hsa-miR-544b hsa-miR-2278 hsa-miR-378*
    SwitchGear 3'UTR luciferase reporter plasmid: TRPV4 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TRPV4

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for TRPV4

    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/14 molecular function terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding ISS--
    GO:0005034osmosensor activity IEA--
    GO:0005080protein kinase C binding ISS--
    GO:0005261cation channel activity IDA12724311
    GO:0005262calcium channel activity IDA18458941


    TRPV4 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for TRPV4: Trpv4tm1Rck Trpv4tm1Lex Trpv4tm1Msz
         9 MGI mutant phenotypes (inferred from 3 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


    Pathways & Interactions
    for TRPV4 gene

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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Calcium channels
    		Calcium channels1.00
    2CREB Pathway
    		Intracellular Calcium Signaling0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for TRPV4
        Calcium channels

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for TRPV4
        Intracellular Calcium Signaling



    TRPV4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TRPV4

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

    5/49 Interacting proteins for TRPV4 (Q9HBA02, 3 ENSP000002617404) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    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): 5/22 biological process terms (GO ID links to tree view) (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006816calcium ion transport NAS11025659
    GO:0006874cellular calcium ion homeostasis IDA12724311
    GO:0006884cell volume homeostasis TAS12724311
    GO:0006970response to osmotic stress ----
    GO:0006971hypotonic response ----


    TRPV4 for ontologies           About GeneDecksing



    Drugs & Compounds
    for TRPV4 gene

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

    TRPV4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for TRPV4

    Compounds for TRPV4 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    HC 067047Potent and selective TRPV4 antagonist[883031-03-6]
    RN 1747Selective TRPV4 agonist[102448-59-6]
    6-Iodonordihydrocapsaicin Potent, competitive vanilloid receptor antagonist --
    RN 1734Selective TRPV4 antagonist[946387-07-1]
    CapsazepineVanilloid receptor antagonist. Also activator of ENaCdelta[138977-28-3]

    1 HMDB Compound for TRPV4    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    10/11 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about TRPV4 

    Transcripts
    for TRPV4 gene

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

    24/55 AceView cDNA sequences (see all 55):

    BU621358 CA418523 BQ026834 AI570878 BQ183529 AB032427 AF258465 CD106001 
    NM_021625 NM_147204 AJ296305 AI674479 AF279673 BQ010629 CD370593 BE934900 
    BF195817 BX431394 BE388119 AL542240 BQ223331 BM982161 AW207400 AI089668 

    GeneLoc Exon Structure

    5/8 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

    Expression
    for TRPV4 gene

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

    TRPV4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTTCTGTGT

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

    TRPV4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneZeugopod Epiphyseal EndChondrocytesBone, Cartilage
    HeartAtrioventricular CanalAtrioventricular Canal CellsMyocardium
    LimbZeugopodMesenchymal Condensate CellsBone, Cartilage
    CartilageMeckel's CartilageCartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)

    See TRPV4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TRPV4

    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)

        SABiosciences Expression via Pathway-Focused PCR Arrays including TRPV4: 
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              Osmotic Stress in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for TRPV4 gene

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

    Orthologs for TRPV4 gene from 6/18 species (see all 18)    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 more1, 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 more 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 more 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
    		 17(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
    for TRPV4 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TRPV4 gene
    TRPV52  TRPV62  TRPV12  TRPV22  TRPV32  
    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


    Genomic Variants
    for TRPV4 gene

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

    UniProtKB/Swiss-Prot: TRPV4_HUMAN, Q9HBA0
    Polymorphism: 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


    10/939 NCBI SNPs in TRPV4 are shown (see all 939)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219126371,2
    		Cpathogenic110222183(-) GGACCC/G/TGGGCA 15 P R L mis10--------
    rs2676071471,2
    		Cpathogenic110222184(-) AGGACC/G/TCGGGC 15 P A S mis10--------
    rs1219126331,2
    		C,pathogenic110230201(-) TGCTCA/GTCTAC 10 I V mis10--------
    rs779755041,2
    		Cpathogenic110230500(-) CACCCA/GTGGGC 10 H R mis10--------
    rs37420301,2
    		C,F,H,other110252547(-) AGCTCC/TCCGGG 10 P S mis1 ese314Minor allele frequency- T:0.06EA NS NA WA EU 3134
    rs1459350051,2
    		--110220408(+) CTCCCA/GCCTAG 5 -- ds50010--------
    rs778956341,2
    		F,--110220424(+) CAGCCC/ATCCCA 5 -- ds50011Minor allele frequency- A:0.08EA 120
    rs47666311,2
    		C,F,A,H,--110220464(+) TCCCCG/ACACCT 5 -- ds500127Minor allele frequency- A:0.38NA NS EA WA CSA 2492
    rs1399859151,2
    		--110220518(+) GTACTA/GTCTCC 5 -- ds50010--------
    rs1458484591,2
    		--110220659(+) CCACC-/TTCCCCA 5 -- ds50010--------

    HapMap Linkage Disequilibrium report for TRPV4 (110220890 - 110271212 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TRPV4: --
    Human Gene Mutation Database (HGMD): TRPV4

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for TRPV4

    Disorders / Diseases
    for TRPV4 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    TRPV4 for disorders           About GeneDecksing

    OMIM gene information: 605427   
    OMIM disorders: 113500  184252  156530  606071  181405  613508  168400  184095  
    UniProtKB/Swiss-Prot: TRPV4_HUMAN, Q9HBA0
  • Defects in TRPV4 are the cause of brachyolmia type 3 (BRAC3) [MIM:113500]; also known as brachyrachia. The
    • brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a
    short trunk, scoliosis and mild short stature. BRAC3 is an autosomal dominant form with severe kyphoscoliosis and
    flattened, irregular cervical vertebrae
  • Defects in TRPV4 are the cause of spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]. The
    • spondylometaphyseal dysplasias (SMDs) are a group of short-stature disorders distinguished by abnormalities in the
    vertebrae and the metaphyses of the tubular bones. SMDK is an autosomal dominant disorder characterized by significant
    scoliosis and mild metaphyseal abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overfaced pedicles
  • Defects in TRPV4 are the cause of metatropic dysplasia (MTD) [MIM:156530]; also called metatropic dwarfism.
    • Metatropic dysplasia is 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
  • Defects in TRPV4 are the cause of 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
  • Defects in TRPV4 are the cause of Charcot-Marie-Tooth disease type 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 regeneration 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
  • Defects in TRPV4 are the cause of Scapuloperoneal spinal muscular atrophy (SPSMA) [MIM:181405]. It is 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
  • Defects in TRPV4 are the cause of spondyloepiphyseal dysplasia Maroteaux type (SEDM) [MIM:184095]. It is 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
  • Defects in TRPV4 are the cause of parastremmatic dwarfism (PSTD) [MIM:168400]. It is 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
  • Defects in TRPV4 are the cause of 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

    20/46 diseases for TRPV4 (see all 46):    About MalaCards
    charcot-marie-tooth disease    metatropic dysplasia    charcot-marie-tooth disease type 2    scapuloperoneal spinal muscular atrophy
    spondylometaphyseal dysplasia kozlowski type    charcot-marie-tooth disease type 2c    sodium serum level qtl 1    charcot-marie-tooth neuropathy
    spinal muscular atrophy    neuropathy    spondylometaphyseal dysplasia    spondyloepiphyseal dysplasia maroteaux type
    parastremmatic dwarfism    brachyolmia    brachyolmia type 3    spondyloepiphyseal dysplasia
    muscular atrophy    tooth disease    motor peripheral neuropathy    dentin sensitivity

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

    3 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: TRPV4 (3 documents)

    Export disorders for TRPV4 gene to outside databases

    Publications
    for TRPV4 gene

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

    PubMed articles for TRPV4 gene, integrated from 9 sources (see all 167):
    (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. (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. (2010)
    3. Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptor. (PubMed id 11081638)1, 2, 3, 9 Liedtke W....Heller S. (2000)
    4. Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo -Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mut ations. (PubMed id 20503319)1, 2, 9 Nishimura G....Superti-Furga A. (2010)
    5. Identification of a Protein Kinase C-dependent phosph orylation site involved in sensitization of TRPV4 channel. (PubMed id 20043876)1, 2, 9 Peng H....Wegierski T. (2010)
    6. 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. (2003)
    7. Alterations in the ankyrin domain of TRPV4 cause cong enital distal SMA, scapuloperoneal SMA and HMSN2C. (PubMed id 20037588)1, 2, 9 Auer-Grumbach M....Guelly C. (2010)
    8. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. (PubMed id 20037586)1, 2, 9 LandourAc G....Sumner C.J. (2010)
    9. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. (PubMed id 19232556)1, 2, 9 Krakow D....Cohn D.H. (2009)
    10. A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia. (PubMed id 19666518)1, 2, 9 Tian W....Cohen D.M. (2009)

    External Searches for TRPV4 gene

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

    Genome Databases showing TRPV4 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 59341 HGNC: 18083 AceView: TRPV4 Ensembl:ENSG00000111199 euGenes: HUgn59341
    ECgene: TRPV4 H-InvDB: TRPV4

    Other Databases showing TRPV4 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TRPV4 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TRPV4 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for TRPV4 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for TRPV4 gene:
    Search GeneIP for patents involving TRPV4

    GeneCards and IP:
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