FB2026_03 , released September 17, 2026
Allele: Hsap\PNPLA6F2M1.UAS
Open Close
General Information
Symbol
Hsap\PNPLA6F2M1.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0320042
Feature type
allele
Associated gene
Hsap\PNPLA6
Associated Insertion(s)
Carried in Construct
P{UAS-hPNPLA6.F2M1}
Key Links
Transgenic product class
frameshift_truncation
(Topaloglu et al., 2014)
Mutagen
Nature of the Allele
Transgenic product class
frameshift_truncation
(Topaloglu et al., 2014)
Mutagen
in vitro construct
(Topaloglu et al., 2014)
Progenitor genotype
Carried in construct
P{UAS-hPNPLA6.F2M1}
Cytology
Description

UAS regulatory sequences drive expression of Hsap\PNPLA6 carrying the 'F2M1' mutation (insertion at nucleotide residue 1127, leading to a frameshift and premature stop codon) that has been identified in this gene in patients with Gordon Holmes syndrome. The resulting protein is predicted to lack the entire catalytic domain and the C-terminal part of the regulatory domain.

(Topaloglu et al., 2014)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\PNPLA6
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.
      (Topaloglu et al., 2014)
      PNPLA6:p.Asp424Glyfs
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      PNPLA6:p.Asp424, frameshift
      PNPLA6:p.Asp424GlyfsTer18
      PNPLA6:p.Asp376Glyfs
      Associated human disease model(s)
      External database links
      ClinVar: PNPLA6_156538
      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
      NOT Enhancer of
      Statement
      Reference

      Hsap\PNPLA6F2M1.UAS/Scer\GAL4Appl.PU is a non-enhancer of adult brain phenotype of sws1

      (Topaloglu et al., 2014)
      NOT Suppressor of
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      Expression of Hsap\PNPLA6F2M1.Scer\UAS driven by Scer\GAL4Appl.PU does not affect neurodegeneration sws1 flies.

      (Topaloglu et al., 2014)
      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 (3)
      Reported As
      Symbol Synonym
      Hsap\PNPLA6F2M1.Scer\UAS
      Hsap\PNPLA6F2M1.UAS
      PNPLA6D376GfsX18
      (Sunderhaus et al., 2019)
      Name Synonyms
      Secondary FlyBase IDs
        References (3)