| Gene Symbol | SMN2 |
| Full Name | Survival of Motor Neuron 2, Telomeric |
| Chromosome | 5q13.2. |
| Function | The SMN complex plays a critical role in pre-mRNA splicing by facilitating the biogenesis of U1, U2, U4, and U5 snRNPs[@pellizzoni2002]. |
| Molecular Weight | 32 kDa |
| Amino Acids | 294 aa |
| UniProt ID | Q16637 |
| NCBI Gene ID | 6609 |
| Ensembl ID | ENSG00000120247 |
| OMIM | 601627 |
| GeneCards | SMN2 |
| Human Protein Atlas | SMN2 |
| N-terminal Tudor domain (aa 1-90) | Binds to symmetrically dimethylated arginine residues on SMN complex partners |
| Central region (aa 150-250) | Proline-rich, mediates protein-protein interactions |
| C-terminal domain (aa 250-294) | Self-oligomerization domain essential for complex formation |
| Associated Diseases | Als |
| Interactions | MOTOR NEURONS, NEURON, Rb, SMN1 |
| KG Connections | 22 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
No AI portrait yet
No comments yet. Be the first to comment!