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 tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

Uniprot Accession IDs

• Q99700
• A6NLD4
• Q24JQ7
• Q6ZQZ7
• Q99493

Gene Name

• ATXN2

Ensembl ID

• ENST00000377617
• ENSP00000366843
• ENSG00000204842
• ENST00000535949
• ENSP00000439338
• ENST00000550104
• ENSP00000446576
• ENST00000616825
• ENSP00000481448

Symbol

• ATX2
• SCA2
• TNRC13
• ATX2
• SCA2
• TNRC13

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

Protein Classes

PANTHER Classes

Protein / Nucleic Acid Binding / Rna Binding Protein / Ataxin-2

DTO Classes

Protein / Nucleic Acid Binding / Rna Binding Protein / Ataxin-2

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: 413.46   (req: < 5)

Gene RIFs: 134   (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: 413.46   (req: >= 5)

Gene RIFs: 134   (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