Atx2 Ataxin-2 [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: Atx2provided by FlyBase
Official Full Name: Ataxin-2provided by FlyBase
Primary source: FLYBASE:FBgn0041188
Locus tag: Dmel_CG5166
See related: AllianceGenome:FB:FBgn0041188
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Drosophila melanogaster
Lineage: Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as: anon-EST:fe2E1; anon-WO0118547.351; anon-WO0140519.1; atx-2; Atx-2; atx2; ATX2; Atxain-2; ATXN2; BEST:GH27029; CG43368; CG5166; CG5166a; dAtx2; Datx2; DAtx2; Dmel\CG5166; dSCA2; GH27029; l(3)06490; Sca2; SCA2
Summary: Enables RNA binding activity. Involved in several processes, including learning or memory; post-transcriptional regulation of gene expression; and regulation of organelle organization. Located in cytoplasmic stress granule. Is expressed in several structures, including adult brain; adult head; adult pacemaker neurons; embryonic/larval fat body; and gonad. Used to study chromosome 16p11.2 deletion syndrome, 593-kb and spinocerebellar ataxia type 2. Human ortholog(s) of this gene implicated in late onset Parkinson's disease and spinocerebellar ataxia type 2. Orthologous to several human genes including ATXN2L (ataxin 2 like). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: 88F4-88F4; 3-57 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	3R	NT_033777.3 (15408423..15417277)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	3R	NT_033777.2 (11234145..11242999)

Chromosome 3R - NT_033777.3 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The disease-associated proteins Drosophila Nab2 and Ataxin-2 interact with shared RNAs and coregulate neuronal morphology.
Title: The disease-associated proteins Drosophila Nab2 and Ataxin-2 interact with shared RNAs and coregulate neuronal morphology.
Structured and disordered regions of Ataxin-2 contribute differently to the specificity and efficiency of mRNP granule formation.
Title: Structured and disordered regions of Ataxin-2 contribute differently to the specificity and efficiency of mRNP granule formation.
TDP-43 impairs sleep in Drosophila through Ataxin-2-dependent metabolic disturbance.
Title: TDP-43 impairs sleep in Drosophila through Ataxin-2-dependent metabolic disturbance.
Antagonistic roles for Ataxin-2 structured and disordered domains in RNP condensation.
Title: Antagonistic roles for Ataxin-2 structured and disordered domains in RNP condensation.
Ataxin-2 Dysregulation Triggers a Compensatory Fragile X Mental Retardation Protein Decrease in Drosophila C4da Neurons.
Title: Ataxin-2 Dysregulation Triggers a Compensatory Fragile X Mental Retardation Protein Decrease in Drosophila C4da Neurons.
Loss of CrebA also partially suppresses mHtt effects on behavior and cell loss and restoration of CrebA can suppress Atx2 effects. Our results indicate a prominent role of Atx2 in mediating mHtt pathology, specifically via its regulation of CrebA, defining a novel molecular pathway in Huntington's disease pathogenesis.
Title: Ataxin2 functions via CrebA to mediate Huntingtin toxicity in circadian clock neurons.
Study shows that the Drosophila ortholog of human ATXN2, dAtx2, is a potent enhancer of CREST toxicity. Downregulation of dAtx2 in flies overexpressing CREST in retinal ganglion cells was sufficient to largely rescue the severe amyotrophic lateral sclerosis degenerative phenotype induced by mutant human CREST in transgenic Drosophila.
Title: Calcium-responsive transactivator (CREST) toxicity is rescued by loss of PBP1/ATXN2 function in a novel yeast proteinopathy model and in transgenic flies.
Atx2 intrinsically disordered regions (IDRs), which are capable of mediating liquid-liquid phase transitions in vitro, are essential for efficient formation of neuronal mRNP assemblies in vivo. DeltaIDR mutants that lack neuronal RNP granules show normal development, survival, and fertility. However, they show defects in long-term memory formation/consolidation and in C9ORF72 dipeptide repeat or FUS-induced neurodegene...
Title: RNP-Granule Assembly via Ataxin-2 Disordered Domains Is Required for Long-Term Memory and Neurodegeneration.
LSM12 and ME31B/DDX6 define distinct modes of posttranscriptional regulation by ATAXIN-2 protein complex in drosophila circadian pacemaker neurons.
Title: LSM12 and ME31B/DDX6 Define Distinct Modes of Posttranscriptional Regulation by ATAXIN-2 Protein Complex in Drosophila Circadian Pacemaker Neurons.
FMRP and Ataxin-2 have roles in long-term olfactory habituation and neuronal translational control
Title: FMRP and Ataxin-2 function together in long-term olfactory habituation and neuronal translational control.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by FlyBase

Function	Evidence Code	Pubs
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chaeta development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in circadian regulation of translation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in circadian regulation of translation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in circadian regulation of translation	IPI Inferred from Physical Interaction more info	PubMed
involved_in compound eye development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in compound eye photoreceptor development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in habituation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in locomotor rhythm	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in long-term memory	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in miRNA-mediated post-transcriptional gene silencing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in oocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of stress granule assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of actin filament polymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of olfactory learning	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of synapse structural plasticity	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in short-term memory	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in stress granule assembly	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	HDA more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasmic stress granule	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic stress granule	IDA Inferred from Direct Assay more info	PubMed
located_in ribonucleoprotein granule	IDA Inferred from Direct Assay more info	PubMed