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 have RNA binding activity. Predicted to be involved in regulation of cytoplasmic mRNA processing body assembly and stress granule assembly. Predicted to localize to cytoplasmic stress granule. 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 | Length | Ataxin2-like | Ataxin 2, SM domain | LsmAD domain | PAM2 motif | Sm domain |
---|---|---|---|---|---|---|
UniProtKB:A0A8M3ASN5
|
1101 | |||||
UniProtKB:A0A8M3B2P7
|
1098 | |||||
UniProtKB:A0A8M3B2P4
|
1109 | |||||
UniProtKB:A0A8M6Z6Y6
|
1101 | |||||
UniProtKB:A0A8M6YYA8
|
1096 | |||||
UniProtKB:A0A8M3AZU1
|
1102 | |||||
UniProtKB:A0A8M2BCN9
|
1037 | |||||
UniProtKB:A0A8M3B9T7
|
1103 | |||||
UniProtKB:A2CF31
|
1112 | |||||
UniProtKB:A0A8M3ASJ0
|
1104 | |||||
UniProtKB:A0A8M3AZT8
|
1107 |
Interactions and Pathways
No data available
Plasmids
No data available