FlyBase Allele Report: Hsap\UBQLN2[P525S.UAS]

General Information

Symbol

Hsap\UBQLN2^P525S.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0343217

Feature type

allele

Associated gene

Hsap\UBQLN2

Associated Insertion(s)

Carried in Construct

M{UAS-hUBQLN2.P525S}

Also Known As

UBQLN2^P525S

Key Links

Transgenic product class

missense_variant

(Kim et al., 2018)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Kim et al., 2018)

Mutagen

in vitro construct

(Kim et al., 2018)

Progenitor genotype

Carried in construct

M{UAS-hUBQLN2.P525S}

Cytology

Description

UASt regulates expression of Hsap\UBQLN2 bearing the clinically validated ALS-associated P525S mutation.

(Kim et al., 2018)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\UBQLN2

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 )

Disease

Evidence

References

model of amyotrophic lateral sclerosis

CEA

(Kim et al., 2018)

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.

(Kim et al., 2018)

UBQLN2:p.Pro525Ser

(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_29954

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal eye color, with Scer\GAL4^GMR.PF

(Kim et al., 2018)

abnormal locomotor behavior | adult stage, with Scer\GAL4^elav.PLu

(Kim et al., 2018)

decreased cell number | adult stage, with Scer\GAL4^GMR.PF

(Kim et al., 2018)

short lived, with Scer\GAL4^elav.PLu

(Kim et al., 2018)

Phenotype Manifest In

eye photoreceptor cell | adult stage, with Scer\GAL4^GMR.PF

(Kim et al., 2018)

interommatidial bristle | progressive, with Scer\GAL4^GMR.PF

(Kim et al., 2018)

rhabdomere of eye photoreceptor cell | adult stage, with Scer\GAL4^GMR.PF

(Kim et al., 2018)

Detailed Description

Statement

Reference

The expression from two copies of Hsap\UBQLN2^P525S.UAS under the control of Scer\GAL4^GMR.PF leads to an age-dependent loss of interommatidial bristles, hyperpigmented eye patches and photoreceptor neuron defects, including fused and missing rhabdomeres; expression from one copy does not have obvious eye phenotypes.

The expression of Hsap\UBQLN2^P525S.UAS under the control of Scer\GAL4^elav.PLu leads to adults showing a significant decrease in climbing ability; third instar larval neuromuscular junctions show a significant increase in the number of mature boutons, a significant decrease in bouton size, but no significant change in the number of satellite boutons.

(Kim et al., 2018)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

Hsap\UBQLN2^P525S.UAS, Scer\GAL4^GMR.PF is an enhancer of visible phenotype of Hsap\TARDBP^{M337V.UAS.Tag:MYC}, Scer\GAL4^GMR.PF

(Kim et al., 2018)

Hsap\UBQLN2^P525S.UAS, Scer\GAL4^GMR.PF is an enhancer of abnormal eye color phenotype of Hsap\TARDBP^{M337V.UAS.Tag:MYC}, Scer\GAL4^GMR.PF