Gene
atxn2
- ID
- ZDB-GENE-060526-217
- Name
- ataxin 2
- Symbol
- atxn2 Nomenclature History
- Previous Names
-
- si:dkey-165i4.1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable mRNA binding activity. Predicted to be involved in stress granule assembly. Predicted to be active in cytoplasmic stress granule. Is expressed in gut; motor neurons; and spinal cord. Human ortholog(s) of this gene implicated in late onset Parkinson's disease and spinocerebellar ataxia type 2. Orthologous to human ATXN2 (ataxin 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Laboissonniere et al., 2018
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| late onset Parkinson's disease | Alliance | {Parkinson disease, late-onset, susceptibility to} | 168600 |
| spinocerebellar ataxia type 2 | Alliance | Spinocerebellar ataxia 2 | 183090 |
| spinocerebellar ataxia type 2 | Alliance | {Amyotrophic lateral sclerosis, susceptibility to, 13} | 183090 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Ataxin2-like | Ataxin 2, SM domain | LsmAD domain | PAM2 motif | Sm domain |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3ASN5 | InterPro | 1101 | |||||
| UniProtKB:A0A8M3B2P7 | InterPro | 1098 | |||||
| UniProtKB:A0A8M3B2P4 | InterPro | 1109 | |||||
| UniProtKB:A0A8M6Z6Y6 | InterPro | 1101 | |||||
| UniProtKB:A0A8M6YYA8 | InterPro | 1096 | |||||
| UniProtKB:A0A8M3AZU1 | InterPro | 1102 | |||||
| UniProtKB:A0A8M2BCN9 | InterPro | 1037 | |||||
| UniProtKB:A0A8M3B9T7 | InterPro | 1103 | |||||
| UniProtKB:A2CF31 | InterPro | 1112 | |||||
| UniProtKB:A0A8M3ASJ0 | InterPro | 1104 | |||||
| UniProtKB:A0A8M3AZT8 | InterPro | 1107 |
Interactions and Pathways
No data available
Plasmids
No data available