FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\TRPV4R269C.UAS.BID
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General Information
Symbol
Hsap\TRPV4R269C.UAS.BID
Species
H. sapiens
Name
FlyBase ID
FBal0361640
Feature type
allele
Associated gene
Hsap\TRPV4
Associated Insertion(s)
Carried in Construct
P{UAS-hTRPV4.R269C.BID}
Key Links
Transgenic product class
missense_variant
(Woolums et al., 2020)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Woolums et al., 2020)
Mutagen
in vitro construct
(Woolums et al., 2020)
Progenitor genotype
Carried in construct
P{UAS-hTRPV4.R269C.BID}
Cytology
Description

UAS regulatory sequences drive expression of the full-length Hsap\TRPV4 open reading frame, mutated to carry a R269C amino acid substitution (a neuropathy-causing mutation).

(Woolums et al., 2020)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\TRPV4
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Variant Molecular Consequences
Associated Sequence Data
DDBJ / EMBL / GenBank
DNA sequence
Protein sequence
 
UniProtKB/Swiss-Prot
    UniProtKB/TrEMBL
      Expression Data
      Reporter Expression
      Additional Information
      Statement
      Reference
       
      Marker for
      Reflects expression of
      Reporter construct used in assay
      Human Disease Associations
      Disease Ontology (DO) Annotations
      Models Based on Experimental Evidence ( 1 )
      Disease
      Evidence
      References
      model of  neuromuscular disease
      CEA with CaMKIIUAS.cKa
      (Woolums et al., 2020)
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  neuromuscular disease
      is exacerbated by MiroA20V.UAS.Tag:MYC
      (Woolums et al., 2020)
      is exacerbated by MiroUAS.cGa
      (Woolums et al., 2020)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Woolums et al., 2020)
      TRPV4:p.Arg269Cys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      TRPV4:p.Arg235Cys
      Associated human disease model(s)
      External database links
      ClinVar: 5002
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference

      Individuals co-expressing Hsap\TRPV4R269C.UAS.BID and MiroUAS.cGa frequently fail to expand their wings after eclosion.

      (Woolums et al., 2020)
      Xenogenetic Interactions
      Statement
      Reference

      Individuals co-expressing Hsap\TRPV4R269C.UAS.BID and either CaMKIIUAS.cKa or CaMKIIT287A.UAS under the control of Scer\GAL4CCAP.PU fail to expand their wings after eclosion.

      (Woolums et al., 2020)
      Complementation and Rescue Data
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      Hsap\TRPV4R269C.UAS.BID
      Name Synonyms
      Secondary FlyBase IDs
        References (2)