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General Information
Symbol
Hsap\HNRNPA2B1D290V.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0288448
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
hnRNPA2 D290V
Key Links
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Carried in construct
Cytology
Nature of the lesion
Statement
Reference

UASt regulatory sequences drive expression of a mutant form of Hsap\HNRNPA2B1 containing the D290V amino acid replacement.

Allele components
Product class / Tool use(s)
Encoded product / tool
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 )
Modifiers Based on Experimental Evidence ( 1 )
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.
HNRNPA2B1:p.Asp302Val
Variants Synonym(s)
Associated human disease model(s)
    External database links
    Comments concerning this variant
    Phenotypic Data
    Phenotypic Class
    Phenotype Manifest In
    Detailed Description
    Statement
    Reference

    The expression of Hsap\HNRNPA2B1D290V.Scer\UAS under the control of Scer\GAL4GMR.PS leads to a mild rough eye phenotype, as compared to controls.

    Expression of Hsap\HNRNPA2B1D290V.Scer\UAS driven by Scer\GAL4Mhc.PW results in accumulation of cytoplasmic inclusions in the indirect flight muscle.

    Expression of Hsap\HNRNPA2B1D290V.Scer\UAS under the control of Scer\GAL4Mhc.PU causes severe degeneration that affects all of the indirect flight muscles.

    External Data
    Interactions
    Show genetic interaction network for Enhancers & Suppressors
    Phenotypic Class
    Phenotype Manifest In
    Additional Comments
    Genetic Interactions
    Statement
    Reference
    Xenogenetic Interactions
    Statement
    Reference

    The eye defects observed upon the expression of Hsap\HNRNPA2B1D290V.Scer\UAS under the control of Scer\GAL4GMR.PS are partially suppressed by the co-expression of Zzzz\UGGAA22.Scer\UAS.

    Co-expression of mrjScer\UAS.WT.T:Zzzz\FLAG significantly suppresses the accumulation of cytoplasmic inclusions in the indirect flight muscle seen in flies with expression of Hsap\HNRNPA2B1D290V.Scer\UAS driven by Scer\GAL4Mhc.PW; co-expression of mrjF101I.Scer\UAS.T:Zzzz\FLAG or mrjF105L.Scer\UAS.T:Zzzz\FLAG does not suppress the phenotype and indeed enhances it.

    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\HNRNPA2B1D290V.Scer\UAS
    Hsap\HNRNPA2B1D290V.UAS
    Name Synonyms
    Secondary FlyBase IDs
      References (6)