Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | PSEN2 |
| Gene Name: | PSEN2 |
| Protein Full Name: | Presenilin-2 |
| Alias: | AD3L; AD3LP; AD4; AD4H; AD5; ALG3; ALG-3; Alzheimer disease 4 homolog; E5-1; Presenilin 2; Presenilin 2 (Alzheimer disease 4); PS2; PS-2; PSN2; PSNL2; STM2; STM-2 |
| Mass (Da): | 50140 |
| Number AA: | 448 |
| UniProt ID: | P49810 |
| Locus ID: | 5664 |
| COSMIC ID: | PSEN2 |
| Gene location on chromosome: | 1q42.13 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 20149 |
| Percent of cancer specimens with mutations: | 0.42 |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | PSEN2 is a catalytic subunit of the gamma-secretase complex that cleaves integral membrane proteins such as Notch receptors and APP. It may also play a role in intracellular signalling and gene expression. Certain mutations have been associated with breast cancer, but its mechanism is unknown. |