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Tbio
ATXN2
Ataxin-2

Protein Summary
Description
Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane. This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tr ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000377617
  • ENSP00000366843
  • ENSG00000204842
  • ENST00000535949
  • ENSP00000439338
  • ENST00000550104
  • ENSP00000446576
  • ENST00000616825
  • ENSP00000481448

Symbol
  • ATX2
  • SCA2
  • TNRC13
  • ATX2
  • SCA2
  • TNRC13
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
transcription factor perturbation
0.94
disease perturbation
0.9
transcription factor binding site profile
0.88
trait
0.86
small molecule perturbation
0.83


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 314.29   (req: < 5)
Gene RIFs: 107   (req: <= 3)
Antibodies: 244   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 314.29   (req: >= 5)
Gene RIFs: 107   (req: > 3)
Antibodies: 244   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 10
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (96)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
eosinophil count
3
3
3
7.6
98.5
platelet count
8
10
10
5.3
98.4
birth weight
3
2
3
97.8
5
2
0
1.1
95.9
low density lipoprotein cholesterol measurement
4
3
5
95.2
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
eosinophil count
3
7.6
98.5
platelet count
10
5.3
98.4
birth weight
3
97.8
0
1.1
95.9
low density lipoprotein cholesterol measurement
5
95.2
Orthologs (14)
1 – 5 of 14
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
ataxin 2
VGNC:4941
452247
Macaque
ataxin 2
710742
Mouse
MGI:1277223
20239
Rat
RGD:1306637
288663
Dog
ataxin 2
VGNC:38301
486270
Species
Name
OMA
EggNOG
Inparanoid
Chimp
ataxin 2
Macaque
ataxin 2
Mouse
Rat
Dog
ataxin 2
Protein Structure (1 Structure, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q99700-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 1 of 1
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Gene Ontology Terms (19)
Items per page:
10
1 – 3 of 3
GO Term
Evidence
Assigned by
Inferred from Physical Interaction (IPI)
UniProtKB
Inferred from Physical Interaction (IPI)
UniProtKB
Inferred from High Throughput Direct Assay (HDA)
UniProtKB
Protein-Protein Interactions (175)
1 – 10 of 175
MCRIP2
Tdark
Novelty: 1.50465727
p_int: 0.999999939
p_ni: 6.1e-8
Score: 0.266
Data Source: BioPlex,STRINGDB
LPXN
Tbio
Novelty: 0.00796678
p_int: 0.999917603
p_ni: 0.000082396
p_wrong: 1e-9
Data Source: BioPlex
CCNDBP1
Tbio
Novelty: 0.01527762
p_int: 0.999812367
p_ni: 0.000187633
Data Source: BioPlex
WRAP53
Tbio
Family: Enzyme
Novelty: 0.0204638
p_int: 0.999145149
p_ni: 0.000854851
Data Source: BioPlex
RBFOX2
Tbio
Novelty: 0.00856339
p_int: 0.998908559
p_ni: 0.00109144
p_wrong: 1e-9
Score: 0.687
Data Source: BioPlex,STRINGDB
CRYBG2
Tdark
Novelty: 0.7500462
p_int: 0.998854666
p_ni: 0.001145334
Data Source: BioPlex
SHARPIN
Tbio
Novelty: 0.0197352
p_int: 0.998472338
p_ni: 0.001527662
Data Source: BioPlex
DDX6
Tbio
Family: Enzyme
Novelty: 0.01032357
p_int: 0.998019598
p_ni: 0.001980402
Score: 0.877
Data Source: BioPlex,STRINGDB
CELA2B
Tdark
Family: Enzyme
Novelty: 0.43122129
p_int: 0.991891199
p_ni: 0.0081088
Data Source: BioPlex
DAZ2
Tbio
p_int: 0.987357267
p_ni: 0.012642733
Data Source: BioPlex
Publication Statistics
PubMed Score  314.29

PubMed score by year
PubTator Score  484.28

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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