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5664 PSEN2

5664

PSEN2

presenilin 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition presenilin 2

研究结论

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

名称对应

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

全选

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研究热度

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