ZFIN ID: ZDB-GENE-030912-7
Gene Name: transient receptor potential cation channel, subfamily V, member 4
Gene Symbol: trpv4    Nomenclature History

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Previous Name: wu:fp52e02

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 5 Mapping Details/Browsers
Description: Predicted to have calcium channel activity. Involved in atrioventricular valve development; cellular response to oscillatory fluid shear stress; and response to osmotic stress. Predicted to localize to cilium and integral component of plasma membrane. Is expressed in several structures, including head; heart; pectoral fin; pleuroperitoneal region; and sensory system. 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).
Genome Resources: Alliance (1),  Gene:557850 (1),  Ensembl(GRCz11):ENSDARG00000061941 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa84 Point Mutation Unknown Unknown ENU
sa1671 Point Mutation Exon 12 Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa15329 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa26435 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    CRISPR1-trpv4
    2
    MO1-trpv4 N/A 3
    MO2-trpv4 N/A 1
    DISEASE ASSOCIATED WITH trpv4 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    brachyolmia Alliance Brachyolmia type 3 113500
    Charcot-Marie-Tooth disease axonal type 2C Alliance Hereditary motor and sensory neuropathy, type IIc 606071
    distal hereditary motor neuronopathy type 8 Alliance Neuronopathy, distal hereditary motor, type VIII 600175
    metatropic dysplasia Alliance Metatropic dysplasia 156530
    parastremmatic dwarfism Alliance Parastremmatic dwarfism 168400
    scapuloperoneal spinal muscular atrophy Alliance Scapuloperoneal spinal muscular atrophy 181405
    spondyloepiphyseal dysplasia Maroteaux type Alliance SED, Maroteaux type 184095
    spondylometaphyseal dysplasia Kozlowski type Alliance Spondylometaphyseal dysplasia, Kozlowski type 184252
    Digital arthropathy-brachydactyly, familial 606835
    ?Avascular necrosis of femoral head, primary, 2 617383
    [Sodium serum level QTL 1] 613508
    DISEASE ASSOCIATED WITH trpv4 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process atrioventricular valve development (more)
    Cellular Component integral component of membrane (more)
    Molecular Function ion channel activity (more)
    GO Terms (all 14)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA trpv4-201 (1)    Ensembl 2741
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab1-trpv4 polyclonal IgG Rabbit IHC, WB Abcam plc
    4
    Ab2-trpv4 polyclonal Rabbit IHC, WB Abcam plc
    2
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM trpv4 No data available
    MARKER RELATIONSHIPS
    trpv4 Contained in: [BAC] DKEY-234H16 (1) (order this)
    trpv4 Encodes: [EST] fp52e02 (1)
    [cDNA] MGC:195087 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001042730 (1) 2628 nt
    Genomic GenBank:BX323811 (1) 204094 nt Blast at MegaBLAST
    Polypeptide UniProtKB:A2BG42 (1) 856 aa
    Sequence Information (all 19)
    ORTHOLOGY for trpv4 ( Chr: 5 )
    CITATIONS (43)