FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\TBX2R305H.UAS
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General Information
Symbol
Hsap\TBX2R305H.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0344790
Feature type
allele
Associated gene
Hsap\TBX2
Associated Insertion(s)
Carried in Construct
PBac{UAS-hTBX2.R305H}
Key Links
Transgenic product class
missense_variant
(Liu et al., 2018)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Liu et al., 2018)
Mutagen
in vitro construct
(Liu et al., 2018)
Progenitor genotype
Carried in construct
PBac{UAS-hTBX2.R305H}
Cytology
Description

UASt regulatory sequences drive expression of a Hsap\TBX2 cDNA in which the coding sequence has been mutated to carry the R305H amino acid replacement (a potentially deleterious mutation identified as a candidate for the phenotype in an individual affected by a multisystem malformation disorder). The endogenous stop codon is present, thus even though three copies of the Tag:HA tag are present downstream of the ORF, they are not expected to form part of the translated protein.

(Liu et al., 2018)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\TBX2
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.
      (Liu et al., 2018)
      TBX2:p.Arg305His
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: TBX2_521325
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expressing Hsap\TBX2R305H.UAS under the control of Scer\GAL4ey.PH has no effect on eye size in the great majority of adults. Expression under the control of Scer\GAL4ninaE.PT causes reduced synaptic transmission and phototransduction defects in eye photoreceptor cells, without affecting the prolonged depolarizing afterpotential (PDA).

      (Liu et al., 2018)
      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
      Complementation and Rescue Data
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      Hsap\TBX2R305H.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)