| Gene Information | |
|---|---|
| Gene Name | GM2A |
| Organism | Homo sapiens (Human) |
| Gene Length | 193 |
| Protein Names | Ganglioside GM2 activator (Cerebroside sulfate activator protein) (GM2-AP) (Sphingolipid activator protein 3) (SAP-3) [Cleaved into: Ganglioside GM2 activator isoform short] |
| Target Name | ganglioside gm2 activator |
| Target Type | Clinical trial target |
| Gene Age | 544 ( ENSG00000196743 ) |
| Evolutionary Stage | Opisthokonta |
| AlphaFoldDB | P17900 |
| Gene Card | GM2A |
| Uniprot ID | P17900 |
| Pfam | PF02221 |
| In ASD | no |
| Allosteric Prediction | no (-0.034752462) |
| Ortholog in Animals | Alpaca_ GM2A ( ortholog_one2one ) Dog_ GM2A ( ortholog_one2one ) GuineaPig_ GM2A ( ortholog_one2one ) Macaque_ GM2A ( ortholog_one2one ) Mouse_ Gm2a ( ortholog_one2one ) Pig_ GM2A ( ortholog_one2one ) Rat_ Gm2a ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | NA |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 1G13 (X-ray 2.00A ) 1PU5 (X-ray 1.90A ) 1PUB (X-ray 2.51A ) 1TJJ (X-ray 2.00A ) 2AF9 (X-ray 2.00A ) 2AG2 (X-ray 2.00A ) 2AG4 (X-ray 1.80A ) 2AG9 (X-ray 2.20A ) |
| DBSNP | rs1048719 rs153477 rs153478 rs137852797 rs104893892 |
| Subcellular location [CC] | Lysosome. |
| Mouse PG classification | LPG |
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