Type |
Details |
Score |
Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion, Stefan M Pulst |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
Allele |
Name: |
ataxin 2; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Publication |
First Author: |
López-Juárez ZM |
Year: |
2021 |
Journal: |
Int J Mol Sci |
Title: |
The ATXN2 Orthologs CID3 and CID4, Act Redundantly to In-Fluence Developmental Pathways throughout the Life Cycle of Arabidopsis thaliana. |
Volume: |
22 |
Issue: |
6 |
|
|
•
•
•
•
•
|
Genotype |
Symbol: |
Tg(ATXN2*72Q)#Plt/? |
Background: |
FVB/N-Tg(ATXN2*72Q)#Plt |
Zygosity: |
ot |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Interaction Experiment |
Description: |
Both ubiquitin ligases FBXW8 and PARK2 are sequestrated into insolubility by ATXN2 PolyQ expansions, but only FBXW8 expression is dysregulated. |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, mutant strain, endonuclease-mediated mutation |
|
•
•
•
•
•
|
Allele |
Name: |
ataxin 2; targeted mutation 2.1, Georg Auburger |
Allele Type: |
Targeted |
Attribute String: |
Humanized sequence |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion, Stefan M Pulst |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
HT Experiment |
Series Id: |
GSE39640 |
Experiment Type: |
transcription profiling by array |
Study Type: |
WT vs. Mutant |
Source: |
ArrayExpress |
|
•
•
•
•
•
|
Transgene |
Type: |
transgene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Transgene |
Type: |
transgene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Tg(Pcp2-ATXN2*127Q)#Plt/? |
Background: |
involves: C57BL/6 * DBA/2 |
Zygosity: |
ot |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Atxn2/Atxn2 |
Background: |
B6.129S2-Atxn2 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
HT Experiment |
Series Id: |
GSE55177 |
Experiment Type: |
transcription profiling by array |
Study Type: |
WT vs. Mutant |
Source: |
ArrayExpress |
|
•
•
•
•
•
|
HT Experiment |
|
Experiment Type: |
RNA-Seq |
Study Type: |
WT vs. Mutant |
Source: |
GEO |
|
•
•
•
•
•
|
Publication |
First Author: |
Scoles DR |
Year: |
2017 |
Journal: |
Nature |
Title: |
Antisense oligonucleotide therapy for spinocerebellar ataxia type 2. |
Volume: |
544 |
Issue: |
7650 |
Pages: |
362-366 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, mutant strain, transgenic |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
This SM domain is found in Ataxin-2 [, ]. This domain has been shown to interact with RNA helicase DDX6 [].Ataxin-2 has many functions, such as endocytic receptor cycling [], translational regulation, embryonic development [], energy metabolism and weight regulation []. Mutations of the Ataxin-2 gene cause spinocerebellar ataxia 2 (SCA2), a neurodegenerative disorder leading to predominant loss of Purkinje cells in the cerebellum and impairment of motor coordination []. In SCA2, expansion of a CAG repeat in exon 1 of the Ataxin-2 (ATXN2) gene causes expansion of a polyQ domain in the ATXN2 protein []. ATXN2 has been shown to interact with many proteins. It interacts with multiple RNA-binding proteins (RBPs), staufen, IP3R, RGS8 mRNA, endophilins and CIN85 []. |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
218
|
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Nonhoff U |
Year: |
2007 |
Journal: |
Mol Biol Cell |
Title: |
Ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules. |
Volume: |
18 |
Issue: |
4 |
Pages: |
1385-96 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1049
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1096
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
863
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
890
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
994
|
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Neuwald AF |
Year: |
1998 |
Journal: |
J Mol Med (Berl) |
Title: |
Ataxin-2, global regulators of bacterial gene expression, and spliceosomal snRNP proteins share a conserved domain. |
Volume: |
76 |
Issue: |
1 |
Pages: |
3-5 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mangus DA |
Year: |
1998 |
Journal: |
Mol Cell Biol |
Title: |
Pbp1p, a factor interacting with Saccharomyces cerevisiae poly(A)-binding protein, regulates polyadenylation. |
Volume: |
18 |
Issue: |
12 |
Pages: |
7383-96 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mangus DA |
Year: |
2004 |
Journal: |
Mol Cell Biol |
Title: |
Identification of factors regulating poly(A) tail synthesis and maturation. |
Volume: |
24 |
Issue: |
10 |
Pages: |
4196-206 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yang YS |
Year: |
2019 |
Journal: |
Cell |
Title: |
Yeast Ataxin-2 Forms an Intracellular Condensate Required for the Inhibition of TORC1 Signaling during Respiratory Growth. |
Volume: |
177 |
Issue: |
3 |
Pages: |
697-710.e17 |
|
•
•
•
•
•
|
Publication |
First Author: |
Buchan JR |
Year: |
2008 |
Journal: |
J Cell Biol |
Title: |
P bodies promote stress granule assembly in Saccharomyces cerevisiae. |
Volume: |
183 |
Issue: |
3 |
Pages: |
441-55 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
144
|
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Anantharaman V |
Year: |
2002 |
Journal: |
Nucleic Acids Res |
Title: |
Comparative genomics and evolution of proteins involved in RNA metabolism. |
Volume: |
30 |
Issue: |
7 |
Pages: |
1427-64 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ralser M |
Year: |
2005 |
Journal: |
Hum Mol Genet |
Title: |
Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways. |
Volume: |
14 |
Issue: |
19 |
Pages: |
2893-909 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
This domain can be found in eukaryotic ataxin-2 []. Ataxin-2 is predicted to consist of mostly non-globular domains []. This domain has been shown to interact with RNA helicase DDX6 [].Ataxin-2 has many functions, such as endocytic receptor cycling [], translational regulation, embryonic development [], energy metabolism and weight regulation []. Mutations of the Ataxin-2 gene cause spinocerebellar ataxia 2 (SCA2), a neurodegenerative disorder leading to predominant loss of Purkinje cells in the cerebellum and impairment of motor coordination []. In SCA2, expansion of a CAG repeat in exon 1 of the Ataxin-2 (ATXN2) gene causes expansion of a polyQ domain in the ATXN2 protein []. ATXN2 has been shown to interact with many proteins. It interacts with multiple RNA-binding proteins (RBPs), staufen, IP3R, RGS8 mRNA, endophilins and CIN85 [].Proteins containing this domain also include Pbp1 from budding yeasts, Pbp1 interacts with Pab1 to regulate mRNA polyadenylation [, ]. It promotes mating-type switching in mother cells by positively regulating HO mRNA translation []and forms a condensate in response to respiratory status to regulate TORC1 signaling []. It is also involved in P-body-dependent granule assembly []. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
This entry represents a group of RNA-binding proteins , including Ataxin-2 from animals, Pbp1 from fungi and Cid3/4 from Arabidopsis.Ataxin-2 has many functions, such as endocytic receptor cycling [], translational regulation, embryonic development [], energy metabolism and weight regulation []. Mutations of the Ataxin-2 gene cause spinocerebellar ataxia 2 (SCA2), a neurodegenerative disorder leading to predominant loss of Purkinje cells in the cerebellum and impairment of motor coordination []. In SCA2, expansion of a CAG repeat in exon 1 of the Ataxin-2 (ATXN2) gene causes expansion of a polyQ domain in the ATXN2 protein []. ATXN2 has been shown to interact with many proteins. It interacts with multiple RNA-binding proteins (RBPs), staufen, IP3R, RGS8 mRNA, endophilins and CIN85 [].Pbp1 interacts with Pab1 to regulate mRNA polyadenylation [, ]. It promotes mating-type switching in mother cells by positively regulating HO mRNA translation []and forms a condensate in response to respiratory status to regulate TORC1 signalling []. It is also involved in P-body-dependent granule assembly [].Cid3/4 may have a role in developmental pathways throughout the life cycle of plants []. |
|
•
•
•
•
•
|
Publication |
First Author: |
White MA |
Year: |
2018 |
Journal: |
Nat Neurosci |
Title: |
TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD. |
Volume: |
21 |
Issue: |
4 |
Pages: |
552-563 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lastres-Becker I |
Year: |
2016 |
Journal: |
Biochim Biophys Acta |
Title: |
Mammalian ataxin-2 modulates translation control at the pre-initiation complex via PI3K/mTOR and is induced by starvation. |
Volume: |
1862 |
Issue: |
9 |
Pages: |
1558-69 |
|
•
•
•
•
•
|
HT Experiment |
Series Id: |
GSE54418 |
Experiment Type: |
transcription profiling by array |
Study Type: |
WT vs. Mutant |
Source: |
ArrayExpress |
|
•
•
•
•
•
|
Publication |
First Author: |
Key J |
Year: |
2020 |
Journal: |
Int J Mol Sci |
Title: |
Mid-Gestation lethality of Atxn2l-Ablated Mice. |
Volume: |
21 |
Issue: |
14 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Tadauchi T |
Year: |
2004 |
Journal: |
Mol Cell Biol |
Title: |
Posttranscriptional regulation of HO expression by the Mkt1-Pbp1 complex. |
Volume: |
24 |
Issue: |
9 |
Pages: |
3670-81 |
|
•
•
•
•
•
|
Publication |
First Author: |
Scoles DR |
Year: |
2012 |
Journal: |
Hum Mol Genet |
Title: |
ETS1 regulates the expression of ATXN2. |
Volume: |
21 |
Issue: |
23 |
Pages: |
5048-65 |
|
•
•
•
•
•
|