| Gene Symbol |
PSEN2
|
| Entrez Gene |
5664
|
| Alt Symbol |
AD3L, AD4, CMD1V, PS2, STM2
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
presenilin 2
|
| Other Description |
AD3LP|AD5|Alzheimer disease 4|E5-1|PS-2|STM-2|presenilin-2
|
| Swissprots |
Q96P32 B1AP21 A8K8D4 P49810
|
| Accessions |
AAB50054 CDH92547 EAW69796 EAW69797 EAW69798 EAW69799 EAW69800 P49810 AF416718 AAL16812 AI091221 AK292299 BAF84988 AK301143 BAG62735 BC006365 AAH06365 BT006984 AAP35630 DA198818 DA915823 DQ890646 ABM81572 DQ893826 ABM84752 L43964 AAB59557 L44577 AAC42012 U34349 AAC50290 XM_005273199 XP_005273256 XM_011544236 XP_011542538 XR_949149 XR_949150 NM_000447 NP_000438 NM_012486 NP_036618
|
| Function |
Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. May function in the cytoplasmic partitioning of proteins. {ECO:0000269|PubMed:10497236, ECO:0000269|PubMed:10652302}.
|
| Subcellular Location |
Endoplasmic reticulum membrane {ECO:0000269|PubMed:8574969}; Multi-pass membrane protein {ECO:0000269|PubMed:8574969}. Golgi apparatus membrane {ECO:0000269|PubMed:8574969}; Multi-pass membrane protein {ECO:0000269|PubMed:8574969}.
|
| Tissue Specificity |
Isoform 1 is seen in the placenta, skeletal muscle and heart while isoform 2 is seen in the heart, brain, placenta, liver, skeletal muscle and kidney. {ECO:0000269|PubMed:8574969}.
|
| Top Pathways |
Notch signaling pathway, Alzheimer's disease, Neurotrophin signaling pathway
|