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    Trpv4 transient receptor potential cation channel, subfamily V, member 4 [ Mus musculus (house mouse) ]

    Gene ID: 63873, updated on 21-Apr-2024

    Summary

    Official Symbol
    Trpv4provided by MGI
    Official Full Name
    transient receptor potential cation channel, subfamily V, member 4provided by MGI
    Primary source
    MGI:MGI:1926945
    See related
    Ensembl:ENSMUSG00000014158 AllianceGenome:MGI:1926945
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Trp12; VRL-2; VROAC; OTRPC4; VR-OAC; 0610033B08Rik
    Summary
    Enables several functions, including SH2 domain binding activity; calcium channel activity; and osmosensor activity. Involved in several processes, including cellular hypotonic salinity response; positive regulation of MAPK cascade; and positive regulation of cytokine production. Acts upstream of or within several processes, including hyperosmotic salinity response; osmosensory signaling pathway; and vasopressin secretion. Located in adherens junction; cilium; and plasma membrane. Is expressed in several structures, including autopod; brain; respiratory system; sensory organ; and skeleton. Used to study autosomal dominant nonsyndromic deafness 25. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2C; motor neuron disease (multiple); osteochondrodysplasia (multiple); and osteonecrosis. Orthologous to human TRPV4 (transient receptor potential cation channel subfamily V member 4). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in kidney adult (RPKM 53.0), bladder adult (RPKM 22.4) and 7 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    5 F; 5 55.99 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (114760213..114796497, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (114622152..114658435, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene predicted gene 13790 Neighboring gene STARR-seq mESC enhancer starr_14077 Neighboring gene family with sequence similarity 222, member A Neighboring gene STARR-positive B cell enhancer ABC_E8071 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:115047361-115047562 Neighboring gene predicted gene, 34844 Neighboring gene STARR-positive B cell enhancer ABC_E2757 Neighboring gene STARR-positive B cell enhancer ABC_E9261 Neighboring gene STARR-seq mESC enhancer starr_14082 Neighboring gene glycolipid transfer protein Neighboring gene STARR-positive B cell enhancer ABC_E10341 Neighboring gene predicted gene, 34931 Neighboring gene trichoplein, keratin filament binding

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (13)  1 citation
    • Endonuclease-mediated (4) 

    General gene information

    Markers

    Clone Names

    • MGC150050

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables SH2 domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables actin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables actin filament binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables alpha-tubulin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables beta-tubulin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables calcium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables calmodulin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables microtubule binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables monoatomic cation channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables monoatomic ion channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables osmosensor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables osmosensor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase C binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables stretch-activated, monoatomic cation-selective, calcium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in actin filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in actin filament organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in blood vessel endothelial cell delamination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in calcium ion import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in calcium ion import ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in calcium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in calcium ion import into cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in calcium ion transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in calcium ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cartilage development involved in endochondral bone morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell-cell junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular hypotonic response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular hypotonic response ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular hypotonic salinity response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to heat IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to osmotic stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cortical microtubule organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in diet induced thermogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in energy homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glucose homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within hyperosmotic salinity response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hypotonic response ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intracellular calcium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intracellular calcium ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in microtubule polymerization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organismal-level water homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of brown fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of neuron projection development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in osmosensory signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within osmosensory signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in osmosensory signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within osmosensory signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of JNK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of chemokine (C-C motif) ligand 5 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of chemokine (C-X-C motif) ligand 1 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cytosolic calcium ion concentration ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of interleukin-6 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of macrophage chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of macrophage inflammatory protein 1 alpha production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of microtubule depolymerization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of monocyte chemotactic protein-1 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of striated muscle contraction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of vascular permeability IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of vascular permeability ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of aerobic respiration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in regulation of p38MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of response to osmotic stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in response to fatty acid IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to insulin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in response to lipopolysaccharide IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within response to osmotic stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within response to osmotic stress IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within vasopressin secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cortical actin cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with cytoplasmic microtubule ISO
    Inferred from Sequence Orthology
    more info
     
    located_in filopodium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in focal adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    located_in growth cone ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lamellipodium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in ruffle membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    transient receptor potential cation channel subfamily V member 4
    Names
    osm-9-like TRP channel 4
    osmosensitive transient receptor potential channel 4
    transient receptor potential protein 12
    trpv4 channel
    vanilloid receptor-like channel 2
    vanilloid receptor-like protein 2
    vanilloid receptor-related osmotically-activated channel

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_022017.3NP_071300.2  transient receptor potential cation channel subfamily V member 4

      See identical proteins and their annotated locations for NP_071300.2

      Status: VALIDATED

      Source sequence(s)
      AF279672, AK002735, BC127052
      Consensus CDS
      CCDS19568.1
      UniProtKB/Swiss-Prot
      A0JNY0, Q91XR5, Q9EPK8, Q9EQZ4, Q9ERZ7, Q9ES76
      UniProtKB/TrEMBL
      E9Q7L7
      Related
      ENSMUSP00000071859.3, ENSMUST00000071968.9
      Conserved Domains (2) summary
      TIGR00870
      Location:149803
      trp; transient-receptor-potential calcium channel protein
      sd00045
      Location:237268
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      114760213..114796497 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006530432.2XP_006530495.2  transient receptor potential cation channel subfamily V member 4 isoform X1

      See identical proteins and their annotated locations for XP_006530495.2

      UniProtKB/Swiss-Prot
      A0JNY0, Q91XR5, Q9EPK8, Q9EQZ4, Q9ERZ7, Q9ES76
      UniProtKB/TrEMBL
      E9Q7L7
      Related
      ENSMUSP00000107844.2, ENSMUST00000112225.8
      Conserved Domains (2) summary
      TIGR00870
      Location:149803
      trp; transient-receptor-potential calcium channel protein
      sd00045
      Location:237268
      ANK; ANK repeat [structural motif]
    2. XM_011248235.1XP_011246537.1  transient receptor potential cation channel subfamily V member 4 isoform X2

      UniProtKB/TrEMBL
      E9Q7L7
      Conserved Domains (2) summary
      TIGR00870
      Location:149737
      trp; transient-receptor-potential calcium channel protein
      sd00045
      Location:237268
      ANK; ANK repeat [structural motif]
    3. XM_036165405.1XP_036021298.1  transient receptor potential cation channel subfamily V member 4 isoform X3

      Conserved Domains (2) summary
      sd00045
      Location:237268
      ANK; ANK repeat [structural motif]
      cl40437
      Location:103553
      TRPV; Transient Receptor Potential channel, Vanilloid subfamily (TRPV)