FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\CHMP2BIntron5.UAS.Tag:FLAG
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General Information
Symbol
Hsap\CHMP2BIntron5.UAS.Tag:FLAG
Species
H. sapiens
Name
FlyBase ID
FBal0399873
Feature type
allele
Associated gene
Hsap\CHMP2B
Associated Insertion(s)
Carried in Construct
PBac{UAS-hCHMP2B.Intron5.FLAG}
Key Links
Transgenic product class
missense_variant
(Deng et al., 2022)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Deng et al., 2022)
Mutagen
in vitro construct
(Deng et al., 2022)
Progenitor genotype
Carried in construct
PBac{UAS-hCHMP2B.Intron5.FLAG}
Cytology
Description

UAS regulatory sequences drive expression of Hsap\CHMP2B carrying the frontotemporal dementia-related Intron 5 mutation. Tagged with Tag:FLAG.

(Deng et al., 2022)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\CHMP2B
Tagged with
Tag:FLAG
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 ( 1 )
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      exacerbates  amyotrophic lateral sclerosis type 10
      modeled by Hsap\TARDBPUAS.cDa
      (Deng et al., 2022)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Deng et al., 2022)
      CHMP2B:p.Met178_Asp213delinsVal
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      CHMP2B:p.Met137_Asp172delinsVal
      CHMP2B, IVS5AS, G-C
      CHMP2B[Intron5]
      CHMP2B:c.532-1G>C
      Associated human disease model(s)
      External database links
      ClinVar: 98003
      Comments concerning this variant

      In human, mutation in splice acceptor site results in truncation of 35 aa at the carboxyl terminus of the protein (pubmed:16041373).

      G to C substitution in the acceptor splice site of exon 6; the last 36 amino acids are replaced with a single valine residue from the fifth intron (Krasniak and Ahmed, 2016; pubmed:26972529).

      (FlyBase curators, 2019-)
      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
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      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 (1)
      Reported As
      Symbol Synonym
      Hsap\CHMP2BIntron5.UAS.Tag:FLAG
      Name Synonyms
      Secondary FlyBase IDs
        References (2)