FlyBase Allele Report: Hsap\HNRNPA2B1[D290V.UAS]

General Information

Symbol

Hsap\HNRNPA2B1^D290V.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0288448

Feature type

allele

Associated gene

Hsap\HNRNPA2B1

Associated Insertion(s)

Carried in Construct

P{UAS-HNRNPA2B1.D290V}

Also Known As

hnRNPA2 D290V

Key Links

Transgenic product class

missense_variant

(Kim et al., 2013)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Kim et al., 2013)

Mutagen

in vitro construct

(Kim et al., 2013)

Progenitor genotype

Carried in construct

P{UAS-HNRNPA2B1.D290V}

Cytology

Description

UASt regulatory sequences drive expression of a mutant form of Hsap\HNRNPA2B1 containing the D290V amino acid replacement.

(Kim et al., 2013)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\HNRNPA2B1

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 inclusion body myopathy with Paget disease of bone and frontotemporal dementia

CEA

(Kim et al., 2013)

CEC

(Li et al., 2016)

model of amyotrophic lateral sclerosis

CEA

(Ishiguro et al., 2017)

model of inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2

CEA

(Guo et al., 2018, Paul et al., 2017)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of amyotrophic lateral sclerosis

is ameliorated by Zzzz\UGGAA^22.UAS

(Ishiguro et al., 2017)

model of inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2

is ameliorated by Tnpo^GD33

(Guo et al., 2018)

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., 2013)

HNRNPA2B1:p.Asp302Val

(FlyBase curators, 2019-)

Variants Synonym(s)

HNRNPA2B1:p.As290Val

Associated human disease model(s)

inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2

External database links

ClinVar: 65454

Comments concerning this variant

Phenotypic Data

Phenotypic Class

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

(Ishiguro et al., 2017)

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

(Ishiguro et al., 2017)

Phenotype Manifest In

eye, with Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

indirect flight muscle cell, with Scer\GAL4^Mhc.PU

(Kim et al., 2013)

indirect flight muscle cell, with Scer\GAL4^Mhc.PW

(Li et al., 2016)

Detailed Description

Statement

Reference

The expression of Hsap\HNRNPA2B1^{D290V.Scer\UAS} under the control of Scer\GAL4^GMR.PS leads to a mild rough eye phenotype, as compared to controls.

(Ishiguro et al., 2017)

Expression of Hsap\HNRNPA2B1^{D290V.Scer\UAS} driven by Scer\GAL4^Mhc.PW results in accumulation of cytoplasmic inclusions in the indirect flight muscle.

(Li et al., 2016)

Expression of Hsap\HNRNPA2B1^{D290V.Scer\UAS} under the control of Scer\GAL4^Mhc.PU causes severe degeneration that affects all of the indirect flight muscles.

(Kim et al., 2013)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\HNRNPA2B1^D290V.UAS, Scer\GAL4^GMR.PS has visible | adult stage phenotype, suppressible | partially by Zzzz\UGGAA^22.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Hsap\HNRNPA2B1^D290V.UAS, Scer\GAL4^GMR.PS has abnormal eye color phenotype, suppressible | partially by Zzzz\UGGAA^22.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\HNRNPA2B1^D290V.UAS, Scer\GAL4^Mhc.PW has indirect flight muscle cell phenotype, enhanceable by mrj^{F105L.UAS.Tag:FLAG}, Scer\GAL4^Mhc.PW

(Li et al., 2016)

Hsap\HNRNPA2B1^D290V.UAS, Scer\GAL4^Mhc.PW has indirect flight muscle cell phenotype, enhanceable by mrj^{F101I.UAS.Tag:FLAG}, Scer\GAL4^Mhc.PW

(Li et al., 2016)

Suppressed by

Statement

Reference

Hsap\HNRNPA2B1^D290V.UAS, Scer\GAL4^GMR.PS has eye phenotype, suppressible | partially by Zzzz\UGGAA^22.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Hsap\HNRNPA2B1^D290V.UAS, Scer\GAL4^GMR.PS has ommatidium | adult stage phenotype, suppressible | partially by Zzzz\UGGAA^22.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Hsap\HNRNPA2B1^D290V.UAS, Scer\GAL4^GMR.PS has retina | adult stage phenotype, suppressible | partially by Zzzz\UGGAA^22.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Hsap\HNRNPA2B1^D290V.UAS, Scer\GAL4^Mhc.PW has indirect flight muscle cell phenotype, suppressible by mrj^{UAS.WT.Tag:FLAG}, Scer\GAL4^Mhc.PW

(Li et al., 2016)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The eye defects observed upon the expression of Hsap\HNRNPA2B1^{D290V.Scer\UAS} under the control of Scer\GAL4^GMR.PS are partially suppressed by the co-expression of Zzzz\UGGAA^22.Scer\UAS.

(Ishiguro et al., 2017)

Co-expression of mrj^{Scer\UAS.WT.T:Zzzz\FLAG} significantly suppresses the accumulation of cytoplasmic inclusions in the indirect flight muscle seen in flies with expression of Hsap\HNRNPA2B1^{D290V.Scer\UAS} driven by Scer\GAL4^Mhc.PW; co-expression of mrj^{F101I.Scer\UAS.T:Zzzz\FLAG} or mrj^{F105L.Scer\UAS.T:Zzzz\FLAG} does not suppress the phenotype and indeed enhances it.

(Li et al., 2016)

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 (2)

Reported As

Symbol Synonym

Hsap\HNRNPA2B1^{D290V.Scer\UAS}

Hsap\HNRNPA2B1^D290V.UAS

Name Synonyms

Secondary FlyBase IDs

References (6)

Report Sections

Open Close