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23404 EXOSC2

23404

EXOSC2

exosome component 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition exosome component 2

研究结论

Date Results Publications
2021-04-03 13:31:00 Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis. 31628467
2017-11-04 11:55:00 The EXOSC2-associated phenotype shows only minimal overlap with the previously reported diseases associated with mutations. 26843489
2010-01-21 00:00:00 Knock-down of hRrp41p or hRrp4p but not PM/Scl-100 or PM/Scl-75 leads to codepletion of other subunits. 17545563
2004-03-19 14:59:00 Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring. 12419256

名称对应

Type IDs
Synonymous RRP4, Rrp4p, SHRF, hRrp4p, p7
Gene
UniProtKB-ID: EXOS2_HUMAN, B3KQW2_HUMAN
UniprotKB: Q13868, B3KQW2
UniParc: UPI0000134AD4, UPI0000047D1B, UPI000059DA7D, UPI000178DFD8
EMBL: AK001916, AK296605, AK090512, U07561, AL359092, CH471090, AK022460, BC000747
Ensembl: ENSG00000130713
KO: hsa:23404
Nucleutide sequences
EMBL-CDS: BAA91977.1, BAB14043.1, AAH00747.1, EAW87944.1, BAG59218.1, EAW87942.1, AAB60392.1, BAG52174.1
Ensembl_TRS: ENST00000372358, ENST00000372351, ENST00000546165
Protein sequencees
Ensembl_PRO: ENSP00000361426, ENSP00000361433, ENSP00000444917
RefSeq: NP_055100.2, NP_001269637.1, XP_016870047.1, XP_005272233.1, NP_001269638.1, XP_006717086.1
Others
UniRef100: UniRef100_Q13868
UniRef90: UniRef90_Q13868
UniRef50: UniRef50_Q13868
UniGene: Hs.654643
CCDS: CCDS65161.1, CCDS6935.1, CCDS65160.1

全选

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