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General Information
Symbol
Hsap\CHMP2BIntron5.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0241178
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
UAS-CHMP2BIntron5, CHMP2BIntron5
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

UAS regulatory sequences drive expression of Hsap\CHMP2B coding sequences in which the final 35 amino acid at the C-terminal are removed.

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.
CHMP2B:p.Met178_Asp213delinsVal
Variants Synonym(s)
CHMP2B:p.Met137_Asp172delinsVal
CHMP2B, IVS5AS, G-C
External database links
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).

Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Expression of Hsap\CHMP2BIntron5.UAS under the control of Scer\GAL4GMR.PU results in eye degeneration phenotype and expression driven by Scer\GAL4nSyb.PS leads to synaptic overgrowth at neuromuscular junction (increased bouton number and NMJ length), aberrant brain accumulations of POSH protein, increased cell death in larval brain as well as reduced crawling velocity in third instar larvae.

Expression of Hsap\CHMP2BIntron5.Scer\UAS in the eye under the control of Scer\GAL4GMR.PF leads to a mild phenotype characterized by melanotic deposits.

Expression of Hsap\CHMP2BIntron5.Scer\UAS in motor neurons under the control of Scer\GAL4nSyb.PS induces a 30% increase in synaptic growth compared with controls.

Expression of Hsap\CHMP2BIntron5.Scer\UAS under the control of Scer\GAL4GMR.PU results in a few small melanin deposits (indicating degeneration) in the eye in most flies.

Pan-neural expression of Hsap\CHMP2BIntron5.Scer\UAS results in lethality.

Expression of Hsap\CHMP2BIntron5.Scer\UAS in the eye, under the control of Scer\GAL4GMR.PF results in a rough eye phenotype and the appearance of black spots. Internal eye structure is also disrupted.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhanced by
Statement
Reference

Hsap\CHMP2BIntron5.UAS, Scer\GAL4GMR.PU has visible phenotype, enhanceable by Nsf2A6/Nsf2[+]

Hsap\CHMP2BIntron5.UAS, Scer\GAL4GMR.PU has visible phenotype, enhanceable by Nsf2A15/Nsf2[+]

Hsap\CHMP2BIntron5.UAS, Scer\GAL4GMR.PU has visible phenotype, enhanceable by alphaSnap[+]/αSnapM4

Hsap\CHMP2BIntron5.UAS, Scer\GAL4GMR.PU has visible phenotype, enhanceable by alphaSnap[+]/αSnapG8

NOT Enhanced by
Suppressed by
NOT suppressed by
Enhancer of
Phenotype Manifest In
Enhanced by
Statement
Reference

Hsap\CHMP2BIntron5.UAS, Scer\GAL4GMR.PU has eye phenotype, enhanceable by Nsf2A6/Nsf2[+]

Hsap\CHMP2BIntron5.UAS, Scer\GAL4GMR.PU has eye phenotype, enhanceable by Nsf2A15/Nsf2[+]

Hsap\CHMP2BIntron5.UAS, Scer\GAL4GMR.PU has eye phenotype, enhanceable by alphaSnap[+]/αSnapM4

Hsap\CHMP2BIntron5.UAS, Scer\GAL4GMR.PU has eye phenotype, enhanceable by alphaSnap[+]/αSnapG8

Hsap\CHMP2BIntron5.UAS, Scer\GAL4GMR.PU has eye phenotype, enhanceable by Syx1301470/Syx13[+]

Hsap\CHMP2BIntron5.UAS, Scer\GAL4GMR.PU has eye phenotype, enhanceable by Syx17f01971/Syx17[+]

NOT Enhanced by
Suppressed by
Statement
Reference
NOT suppressed by
Enhancer of
Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference

The eye degeneration phenotype characteristic for adult flies expressing Hsap\CHMP2BIntron5.UAS under the control of Scer\GAL4GMR.PU is strongly enhanced by co-expression of Akt1HMS00007 or by combination with any of the following: Akt104226, Akt13, Akt11 or Df(3L)H99.

The neuromuscular junction synaptic overgrowth and larval locomotion deficits along with the abnormal brain accumulations of POSH protein induced by Scer\GAL4nSyb.PS-driven expression of Hsap\CHMP2BIntron5.UAS is ameliorated by co-expression of Akt1UAS.ORF, Akt1ΔPH.UAS.Tag:Myr(Unk), POSHHMC05588 or by POSH74 homozygosity, which also decreases the elevated cell death in the larval brain.

The synaptic overgrowth phenotype resulting from the expression of Scer\GAL4nSyb.PS>Hsap\CHMP2BIntron5.Scer\UAS is suppressed when Rab8Scer\UAS.cWa is co-expressed.

Expression of Mmus\Chmp4b with Hsap\CHMP2BIntron5.Scer\UAS greatly enhances the severity of the rough eye phenotype compared to both single mutants (both under the control of Scer\GAL4GMR.PF).

Expression of Mmus\Cd8aScer\UAS.T:Avic\GFP with Hsap\CHMP2BIntron5.Scer\UAS does not affect the severity of the rough eye phenotype (both under the control of Scer\GAL4GMR.PF).

A single copy of shrb4, vps2GS11024, vps24EY04708, Vps28k16503, TSG101f00976 or Df(3L)ED210 significantly enhances the Hsap\CHMP2BIntron5.Scer\UAS Scer\GAL4GMR.PF phenotype in 1-day-old flies.

The Hsap\CHMP2BIntron5.Scer\UAS Scer\GAL4GMR.PF eye phenotype is significantly enhanced by a Df(2L)ED1243/+ or Df(3R)ED5664/+ background.

Spn5c01214 significantly enhances the Hsap\CHMP2BIntron5.Scer\UAS Scer\GAL4GMR.PF eye phenotype.

Spn5GS9853 significantly enhances the Hsap\CHMP2BIntron5.Scer\UAS Scer\GAL4GMR.PF eye phenotype.

The Scer\GAL4GMR.PF Hsap\CHMP2BIntron5.Scer\UAS-mediated eye black spots are suppressed in a Bc1/+ background.

The presence of one copy of spz2 or spzKG05402 markedly reduces the number of flies with melanin deposits caused by expression of Hsap\CHMP2BIntron5.Scer\UAS under the control of Scer\GAL4GMR.PF.

The presence of a copy of different cact mutant alleles, cact1, cact4, or cactKG07677 significantly enhanced the Hsap\CHMP2BIntron5.Scer\UAS Scer\GAL4GMR.PF phenotype.

Expression of Spn5Scer\UAS.cAa in the eye under the control of Scer\GAL4GMR.PF suppresses the external eye phenotype caused by Hsap\CHMP2BIntron5.Scer\UAS expression. However, Spn5Scer\UAS.cAa overexpression does not rescue the photoreceptor degeneration phenotype.

Expression of Spn5Δsig.Scer\UAS in the eye under the control of Scer\GAL4GMR.PF fails to suppress the melanization phenotype caused by Hsap\CHMP2BIntron5.Scer\UAS expression.

Expression of Spn5Scer\UAS.cAa in the eye under the control of Scer\GAL4GMR.PF completely suppresses the enhancement effect of Spn5c01214/+ on the Hsap\CHMP2BIntron5.Scer\UAS locus.

The presence of one copy of spz2 markedly reduces the number of flies with melanin deposits caused by expression of Hsap\CHMP2BIntron5.Scer\UAS under the control of Scer\GAL4GMR.PF.

The presence of one copy of spzKG05402 markedly reduces the number of flies with melanin deposits caused by expression of Hsap\CHMP2BIntron5.Scer\UAS under the control of Scer\GAL4GMR.PF.

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
CHMP2BIntron5
Hsap\CHMP2BIntron5.Scer\UAS
Hsap\CHMP2BIntron5.UAS
Name Synonyms
Secondary FlyBase IDs
    References (11)