Type | Description |
---|---|
Definition | presenilin 2 |
Date | Results | Publications |
---|---|---|
2021-04-17 13:38:00 | Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2. | 32087291 |
2020-10-31 13:15:00 | Intracellular Calcium Dysregulation by the Alzheimer's Disease-Linked Protein Presenilin 2. | 31991578 |
2020-10-31 13:13:00 | PSEN1, PSEN2, and APP mutations in 404 Chinese pedigrees with familial Alzheimer's disease. | 31914229 |
2020-10-24 13:56:00 | Genetic analyses of early-onset Alzheimer's disease using next generation sequencing. | 31182772 |
2020-07-18 11:53:00 | Mutated PSEN2 impairs autophagy by causing a block in the degradative flux at the level of the autophagosome-lysosome fusion step. | 30892128 |
Type | IDs |
---|---|
Synonymous | AD3L, AD4, CMD1V, PS2, STM2 |
Gene |
UniProtKB-ID:
PSN2_HUMAN
UniprotKB:
P49810
UniParc:
UPI0000049EDA,
UPI000002B1C3,
UPI000014C8F5
EMBL:
CH471098,
AK292299,
BC006365,
L44577,
L43964,
AL391628,
U50871,
AF416718,
BT006984,
U34349
Ensembl:
ENSG00000143801
KO:
hsa:5664
|
Nucleutide sequences |
EMBL-CDS:
AAL16812.1,
EAW69798.1,
AAH06365.1,
AAC50290.1,
AAB50054.1,
EAW69800.1,
AAP35630.1,
AAB59557.1,
BAF84988.1,
AAC42012.1
Ensembl_TRS:
ENST00000422240,
ENST00000366783
|
Protein sequencees |
Ensembl_PRO:
ENSP00000403737,
ENSP00000355747
RefSeq:
XP_005273256.1,
NP_000438.2,
XP_016857324.1,
XP_016857325.1,
NP_036618.2
|
Others |
UniRef100:
UniRef100_P49810
UniRef90:
UniRef90_P49810
UniRef50:
UniRef50_P49810
UniGene:
Hs.25363
CCDS:
CCDS44324.1,
CCDS1556.1
|
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Refseq |
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