| Gene Information | |
|---|---|
| Gene Name | SCA2 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1313 |
| Protein Names | Ataxin-2 (Spinocerebellar ataxia type 2 protein) (Trinucleotide repeat-containing gene 13 protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q99700 |
| Gene Card | ATXN2 |
| Uniprot ID | Q99700 |
| Pfam | PF06741; PF07145; PF14438 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in the brain, heart, liver, skeletal muscle, pancreas and placenta. Isoform 1 is predominant in the brain and spinal cord. Isoform 4 is more abundant in the cerebellum. In the brain, broadly expressed in the amygdala, caudate nucleus, corpus callosum, hippocampus, hypothalamus, substantia nigra, subthalamic nucleus and thalamus. {ECO:0000269|PubMed:8896555, ECO:0000269|PubMed:8896556, ECO:0000269|PubMed:8896557, ECO:0000269|PubMed:9480749}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
|
| PDB | 3KTR (X-ray 1.70A ) |
| DBSNP | rs695871 rs7969300 |
| Subcellular location [CC] | Cytoplasm {ECO:0000250}. |
| Mouse PG classification | NA |
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