ATXN2: Ataxin-2 Gene in Neurodegeneration and Cancer
Comprehensive biomedical reference for ATXN2 (Ataxin-2) – genetic associations, expression, mutations, and clinical significance
Gene Information Card
| Symbol | ATXN2 |
|---|---|
| Full Name | Ataxin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.12 |
| NCBI Gene ID | 6311 ncbi.nlm.nih.gov/gene/6311 |
| Ensembl ID | ENSG00000204842 |
| UniProt ID | Q99700 |
| OMIM ID | 601517 |
| HGNC ID | 10555 |
| Aliases | SCA2, ASL13, TNRC13 |
Description
ATXN2 encodes ataxin-2, a cytoplasmic protein involved in RNA metabolism, endocytosis, and stress granule formation. Pathogenic expansions of a CAG trinucleotide repeat in the coding region cause spinocerebellar ataxia type 2 (SCA2). Intermediate-length repeats are associated with increased risk for amyotrophic lateral sclerosis (ALS) and Parkinson disease. ATXN2 also interacts with TDP-43 and other RNA-binding proteins, linking it to neurodegenerative pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia type 2 (SCA2) | Expansion of CAG repeat (≥33) leads to polyglutamine tract, protein aggregation, and neuronal dysfunction | OMIM #183090; NCBI Gene 6311 |
| Amyotrophic lateral sclerosis (ALS) | Intermediate CAG repeats (27–33) increase risk; ATXN2 protein modulates TDP-43 toxicity | ClinVar; PMID 24642831 |
| Parkinson disease | Intermediate repeat expansions (27–33) associated with increased susceptibility | OMIM #168600; PMID 25064009 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 18.5 | High |
| Brain (frontal cortex) | 15.2 | High |
| Heart | 10.1 | Medium |
| Liver | 7.8 | Medium |
| Skeletal muscle | 6.3 | Medium |
| Pancreas | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.0 | Neuronal model |
| HeLa (cervical carcinoma) | 9.5 | Epithelial |
| HEK293 (embryonic kidney) | 8.2 | Common cell line |
| U-87 MG (glioblastoma) | 14.1 | Glial origin |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| CAG repeat expansion (≥33) | Trinucleotide repeat expansion | <0.01% in general population | Gain of function; polyglutamine aggregation |
| Intermediate CAG repeat (27–33) | Intermediate repeat | ~1–2% in ALS cohorts | Increased risk for ALS and Parkinson disease |
| Missense variants (e.g., p.Pro301Leu) | Missense | Rare | Unknown functional effect; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Not established; ATXN2 knockout in mice shows mild phenotypes, suggesting partial redundancy.
Gain of Function (GOF)
Expanded polyglutamine tract (≥33 repeats) confers toxic gain of function via aggregation and sequestration of RNA-binding proteins.
Dominant Negative (DN)
Proposed for some intermediate expansions; may interfere with wild-type ataxin-2 function in RNA metabolism.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • Poly(A) RNA binding (GO:0044822) |
| • Cytoplasm (GO:0005737) | • Stress granule (GO:0010494) |
| • Endocytosis (GO:0006897) | • Regulation of translation (GO:0006417) |
Pathways
• RNA metabolism and stress granule assembly
• Endocytic trafficking
• TDP-43 proteinopathy pathway
Protein Summary
Ataxin-2 is a 1313-amino-acid protein containing an N-terminal Lsm domain, a polyglutamine tract (normally 22–23 repeats), and a PAM2 motif. It localizes to the cytoplasm and stress granules, where it regulates mRNA stability, translation, and endocytosis. Pathogenic CAG expansions cause protein aggregation and neuronal death, particularly in Purkinje cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATXN2L Knockout HEK293 Cell Line | EDJ-KQ2834 | Human | 11273 | Details Get a Quote |
| ATXN2 Knockout HEK293 Cell Line | EDJ-KQ3821 | Human | 6311 | Details Get a Quote |
| ATXN2 Knockout A-549 Cell Line | EDJ-KQ25958 | Human | 6311 | Details Get a Quote |
| ATXN2 Knockout HCT 116 Cell Line | EDJ-KQ25959 | Human | 6311 | Details Get a Quote |
| ATXN2 Knockout HeLa Cell Line | EDJ-KQ25960 | Human | 6311 | Details Get a Quote |
| ATXN2L Knockout A-549 Cell Line | EDJ-KQ23816 | Human | 11273 | Details Get a Quote |
| ATXN2L Knockout HCT 116 Cell Line | EDJ-KQ23817 | Human | 11273 | Details Get a Quote |
| ATXN2L Knockout HeLa Cell Line | EDJ-KQ23818 | Human | 11273 | Details Get a Quote |
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