| Gene Symbol | STAM2 |
| Function | is a key component of the ESCRT-0 complex that plays a critical role in endolysosomal trafficking and protein clearance. |
| Amino Acids | 424 aa |
| Ensembl ID | ENSG00000084073 |
| GeneCards | STAM2 |
| Human Protein Atlas | STAM2 |
| UIM (Ubiquitin-Interacting Motif) | Binds ubiquitin-tagged cargo proteins |
| SH3 Domain | Mediates protein-protein interactions with signaling molecules |
| MIT Domain | Interacts with ESCRT-III proteins for cargo sorting |
| Genetic Findings | Rare loss-of-function variants in STAM1/STAM2 increase PD risk |
| Transcriptomic Changes | STAM2 expression is altered in PD substantia nigra |
| Proteomic Evidence | STAM2 protein levels correlate with alpha-synuclein burden |
| Functional Validation | STAM2 deficiency leads to lysosomal dysfunction and alpha-synuclein accumulation[@stam2_lysosomal_2021] |
| Associated Diseases | neurodegeneration |
| KG Connections | 2 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
No AI portrait yet
No comments yet. Be the first to comment!