FlyBase Allele Report: Hsap\PEX2[C247R.UAS.GFP]

General Information

Symbol

Hsap\PEX2^{C247R.UAS.GFP}

Species

H. sapiens

Name

FlyBase ID

FBal0409634

Feature type

allele

Associated gene

Hsap\PEX2

Associated Insertion(s)

Carried in Construct

PBac{UAS-hPEX2.C247R.GFP}

Key Links

Transgenic product class

missense_variant

(Gomez et al., 2025)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Gomez et al., 2025)

Mutagen

in vitro construct

(Gomez et al., 2025)

Progenitor genotype

Carried in construct

PBac{UAS-hPEX2.C247R.GFP}

Cytology

Description

UASt regulatory sequences drive expression of Hsap\PEX2 codon-optimized for Drosophila and carrying the human disease-relevant C247R mutation, with a C-terminal GFP tag.

(Gomez et al., 2025)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\PEX2

Tagged with

GFP

green fluorescent protein

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.

(Gomez et al., 2025)

PEX2:p.Cys247Arg

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

peroxisome biogenesis disorder 5A

External database links

ClinVar: 139589

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhancer of

Statement

Reference

Hsap\PEX2^{C247R.UAS.GFP} is a non-enhancer of decreased rate of adult locomotory behavior | progressive phenotype of Pex2²/Pex2^{CR70193-KO-kG4}

(Gomez et al., 2025)

Suppressor of

Statement

Reference

Hsap\PEX2^{C247R.UAS.GFP} is a suppressor | partially of abnormal neuroanatomy | adult stage phenotype of Pex2²/Pex2^{CR70193-KO-kG4}

(Gomez et al., 2025)

Hsap\PEX2^{C247R.UAS.GFP} is a suppressor | partially of abnormal size | adult stage phenotype of Pex2²/Pex2^{CR70193-KO-kG4}

(Gomez et al., 2025)

NOT Suppressor of

Statement

Reference

Hsap\PEX2^{C247R.UAS.GFP} is a non-suppressor of partially lethal phenotype of Pex2²/Pex2^{CR70193-KO-kG4}

(Gomez et al., 2025)

Hsap\PEX2^{C247R.UAS.GFP} is a non-suppressor of short lived phenotype of Pex2²/Pex2^{CR70193-KO-kG4}

(Gomez et al., 2025)

Hsap\PEX2^{C247R.UAS.GFP} is a non-suppressor of bang sensitive | progressive phenotype of Pex2²/Pex2^{CR70193-KO-kG4}

(Gomez et al., 2025)

Hsap\PEX2^{C247R.UAS.GFP} is a non-suppressor of decreased rate of adult locomotory behavior | progressive phenotype of Pex2²/Pex2^{CR70193-KO-kG4}

(Gomez et al., 2025)

Phenotype Manifest In

Suppressor of

Statement

Reference

Hsap\PEX2^{C247R.UAS.GFP} is a suppressor | partially of adult motor neuron phenotype of Pex2²/Pex2^{CR70193-KO-kG4}

(Gomez et al., 2025)

Hsap\PEX2^{C247R.UAS.GFP} is a suppressor | partially of axon | adult stage phenotype of Pex2²/Pex2^{CR70193-KO-kG4}

(Gomez et al., 2025)

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\PEX2^{C247R.UAS.GFP}

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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