FlyBase Allele Report: Hsap\UBQLN2[P497H.UAS.Tag:HA]

General Information

Symbol

Hsap\UBQLN2^{P497H.UAS.Tag:HA}

Species

H. sapiens

Name

FlyBase ID

FBal0346668

Feature type

allele

Associated gene

Hsap\UBQLN2

Associated Insertion(s)

Carried in Construct

PBac{UAS-hUBQLN2.P497H.HA}

Key Links

Transgenic product class

missense_variant

(Şentürk et al., 2019)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Şentürk et al., 2019)

Mutagen

in vitro construct

(Şentürk et al., 2019)

Progenitor genotype

Carried in construct

PBac{UAS-hUBQLN2.P497H.HA}

Cytology

Description

UAS regulatory sequences drive expression of Hsap\UBQLN2, mutated to carry the P497H amino acid substitution (a pathogenic variant associated with amyotrophic lateral sclerosis). The coding sequence is tagged with Tag:HA.

(Şentürk et al., 2019)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\UBQLN2

Tagged with

Tag:HA

epitope tag

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.

(Şentürk et al., 2019)

UBQLN2:p.Pro497His

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

amyotrophic lateral sclerosis 15 with or without frontotemporal dementia

External database links

ClinVar: UBQLN2_29950

Comments concerning this variant

Phenotypic Data

Phenotypic Class

decreased rate of adult locomotory behavior, with Scer\GAL4^elav.PLu

(Yeewa et al., 2024)

decreased rate of larval locomotory behavior, with Scer\GAL4^Toll-6-D42

(Yeewa et al., 2024)

decreased size | larval stage, with Scer\GAL4^Toll-6-D42

(Yeewa et al., 2024)

visible | adult stage, with Scer\GAL4^GMR.PS

(Yeewa et al., 2024)

Phenotype Manifest In

Detailed Description

Statement

Reference

Expressing Hsap\UBQLN2^{P497H.UAS.Tag:HA} under the control of Scer\GAL4^Cg.PU leads to a significant decrease in Lysotracker staining (marker of acidic lysosomes) in the third instar larval fat body, as compared to controls.

(Şentürk et al., 2019)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\UBQLN2^{P497H.UAS.Tag:HA}, Scer\GAL4^GMR.PS has visible | adult stage phenotype, suppressible by Ero1L^HMC05709, Scer\GAL4^GMR.PS

(Yeewa et al., 2024)

Phenotype Manifest In

Suppressed by

Statement

Reference

Hsap\UBQLN2^{P497H.UAS.Tag:HA}, Scer\GAL4^GMR.PS has eye phenotype, suppressible by Ero1L^HMC05709, Scer\GAL4^GMR.PS

(Yeewa et al., 2024)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

83363

y¹ w^*; PBac{UAS-hUBQLN2.P497H.HA}VK00037/SM6a

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (1)

Reported As

Symbol Synonym

Hsap\UBQLN2^{P497H.UAS.Tag:HA}

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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