FlyBase Allele Report: Hsap\TNPO2[W370C.UAS.Tag:HA]

FB2026_01 , released March 12, 2026

FB2026_01 , released March 12, 2026

Allele: Hsap\TNPO2^{W370C.UAS.Tag:HA}

General Information

Symbol

Hsap\TNPO2^{W370C.UAS.Tag:HA}

Species

H. sapiens

Name

FlyBase ID

FBal0369509

Feature type

allele

Associated gene

Associated Insertion(s)

Carried in Construct

PBac{UAS-hTNPO2.W370C.HA}

Key Links

Transgenic product class

missense_variant

(Goodman et al., 2021)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Goodman et al., 2021)

Mutagen

in vitro construct

(Goodman et al., 2021)

Progenitor genotype

Carried in construct

PBac{UAS-hTNPO2.W370C.HA}

Cytology

Description

UASt regulatory sequences drive expression of a Hsap\TNPO2 cDNA (GenBank:NM_001136196.1) that has been mutated to carry a W370C amino acid substitution, a potentially pathogenic variant in a conserved residue. The open reading frame (ORF) is tagged at the C-terminal end with three copies of the Tag:HA epitope. The ORF is flanked by a pair of incompatible FRT sites (FRT5 and FRT2), which allows for future in vivo exchange of either the promoter or tag sequence.

(Goodman et al., 2021)

Allele components

Component

Use(s)

Regulatory region(s)

binary expression system - regulatory region

Encoded product / tool

Tagged with

Also carries

recombinase target site

recombinase target site

recombinase target site

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 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies

CEC

(Goodman et al., 2021)

CEA

(Goodman et al., 2021)

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.

(Goodman et al., 2021)

TNPO2:p.Trp370Cys

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

neurodevelopmental disorder with intellectual disability, hypotonia, impaired speech, and dysmorphic facies

External database links

ClinVar: 1299681

Comments concerning this variant

Phenotypic Data

Phenotypic Class

decreased size | adult stage, with Scer\GAL4^ey.PH

(Goodman et al., 2021)

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

(Goodman et al., 2021)

partially lethal - majority live, with Scer\GAL4^da.G32

(Goodman et al., 2021)

visible | adult stage, with Scer\GAL4^ey.PH

(Goodman et al., 2021)

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

(Goodman et al., 2021)

Phenotype Manifest In

eye, with Scer\GAL4^ey.PH

(Goodman et al., 2021)

eye, with Scer\GAL4^GMR.PF

(Goodman et al., 2021)

wing, with Scer\GAL4^nub.PK

(Goodman et al., 2021)

wing vein | increased number, with Scer\GAL4^nub.PK

(Goodman et al., 2021)

Detailed Description

Statement

Reference

The expression of Hsap\TNPO2^{W370C.UAS.Tag:HA} under the control of Scer\GAL4^ey.PH or Scer\GAL4^GMR.PF induces a small, rough eye.

Expression under the control of Scer\GAL4^nub.PK results in wings with rare blisters and increased vein material.

(Goodman et al., 2021)

External Data

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhancer of

Statement

Reference

Hsap\TNPO2^{W370C.UAS.Tag:HA}/Scer\GAL4^{Tnpo-CR92235-TG4.2} is a non-enhancer of increased mortality during development phenotype of Tnpo^{CR92235-TG4.2}/Tnpo^G736D

(Goodman et al., 2021)

NOT Suppressor of

Statement

Reference

Hsap\TNPO2^{W370C.UAS.Tag:HA}/Scer\GAL4^{Tnpo-CR92235-TG4.2} is a non-suppressor of increased mortality during development phenotype of Tnpo^{CR92235-TG4.2}/Tnpo^G736D

(Goodman et al., 2021)

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\TNPO2^{W370C.UAS.Tag:HA}

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections