FB2025_04 , released October 2, 2025
Allele: Hsap\PANK2S241P.UAS
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General Information
Symbol
Hsap\PANK2S241P.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0246216
Feature type
allele
Associated gene
Hsap\PANK2
Associated Insertion(s)
Carried in Construct
P{UAS-PANK2.S241P}
Key Links
Transgenic product class
missense_variant
(Wu et al., 2009)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Wu et al., 2009)
Mutagen
in vitro construct
(Wu et al., 2009)
Progenitor genotype
Carried in construct
P{UAS-PANK2.S241P}
Cytology
Description

UAS regulatory sequences drive expression of an isoform of Hsap\PANK2 containing a putative mitochondrial target sequence and a S241P mutation.

(Wu et al., 2009)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\PANK2
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 ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Wu et al., 2009)
      PANK2:p.Ser351Pro
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      PANK2:p.Ser60Pro
      PANK2:p.Ser240Pro
      Associated human disease model(s)
      External database links
      ClinVar: PANK2_4553
      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
      Suppressor of
      NOT Suppressor of
      Statement
      Reference

      Scer\GAL4Act.PU/Hsap\PANK2S241P.UAS is a non-suppressor of male sterile phenotype of fbl1

      (Wu et al., 2009)
      Phenotype Manifest In
      NOT Suppressor of
      Statement
      Reference

      Scer\GAL4Act.PU/Hsap\PANK2S241P.UAS is a non-suppressor of adult brain phenotype of fbl1

      (Wu et al., 2009)

      Scer\GAL4Act.PU/Hsap\PANK2S241P.UAS is a non-suppressor of retina | adult stage phenotype of fbl1

      (Wu et al., 2009)

      Scer\GAL4Act.PU/Hsap\PANK2S241P.UAS is a non-suppressor of testis phenotype of fbl1

      (Wu et al., 2009)
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      Expression of Hsap\PANK2S241P.Scer\UAS under the control of Scer\GAL4Act.PU in a fbl1 mutant background dramatically increased the eclosion rate. Ectopic expression partially suppresses the impaired locomotion phenotype and short lifespan of fbl1 mutant flies. Female fertility is restored in these animals but males are sterile and display abnormal spermatogenesis.

      Expression of Hsap\PANK2S241P.Scer\UAS under the control of Scer\GAL4Act.PU in a fbl1 mutant background results in a neurodegeneration phenotype, with large vacuoles present in both tissues at 30 days post-eclosion.

      (Wu et al., 2009)
      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\PANK2S241P.Scer\UAS
      Hsap\PANK2S241P.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)