FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\CD2APK301M.UAS
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General Information
Symbol
Hsap\CD2APK301M.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0326770
Feature type
allele
Associated gene
Hsap\CD2AP
Associated Insertion(s)
Carried in Construct
P{UAS-hCD2AP.K301M}
Key Links
Transgenic product class
missense_variant
(Fu et al., 2017)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Fu et al., 2017)
Mutagen
in vitro construct
(Fu et al., 2017)
Progenitor genotype
Carried in construct
P{UAS-hCD2AP.K301M}
Cytology
Description

UASt regulatory sequences drive expression of a mutated Hsap\CD2AP cDNA that carries the amino acid replacement K301M (in the background of the 639 amino acid isoform). This lesion has been identified in a patient with nephrotic syndrome.

(Fu et al., 2017)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\CD2AP
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 ( 0 )
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      The functional and structural defects in Drosophila nephrocytes expressing RNAi against cindr (Drosophila ortholog of CD2AP) are rescued by expression of wt version of human CDAP but not by the nephrotic syndrome-related mutant version carrying the K301M mutation.

      (Fu et al., 2017)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Fu et al., 2017)
      CD2AP:p.Lys301Met
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: CD2AP_402519
      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
      NOT Suppressor of
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      The nephrocyte functional defects (measured by uptake assays) as well as structural abnormalities (fusion of the slit diaphragm structures, loss of lacunar channel) and reduced adult lifespan characteristic for flies expressing cindrTRiP.cUa under the control of Scer\GAL4Dot.PK are not improved by co-expression of Hsap\CD2APK301M.UAS.

      (Fu et al., 2017)
      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 (2)
      Reported As
      Symbol Synonym
      Hsap\CD2APK301M.Scer\UAS
      Hsap\CD2APK301M.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)