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8890 EIF2B4

8890

EIF2B4

eukaryotic translation initiation factor 2B subunit delta

protein-coding

Homo sapiens

基因描述

Type Description
Definition eukaryotic translation initiation factor 2B subunit delta

研究结论

Date Results Publications
2016-07-02 10:56:00 A novel missense mutation within EIF2B4 is associated with vanishing white matter disease. 25600065
2015-07-25 10:57:00 demonstrate that DAP5 associates with eIF2beta and eIF4AI to stimulate IRES-dependent translation of cellular mRNAs 25779044
2014-04-19 12:17:00 The functional effects of selected vanishing white matter disease mutations in EIF2B2-5 by coexpressing mutated and wild-type subunits in human cells. 21560189
2012-12-22 10:46:00 analysis of developmental splicing deregulation in leukodystrophies related to EIF2B mutations 22737209
2012-09-29 10:07:00 A mutation .626G>A [p.Arg209Gln] in exon 7 and c.1399C>T [p.Arg467Trp] in exon 13 of the EIF2B4-Gens. 21503715

名称对应

Type IDs
Synonymous EIF-2B, EIF2B, EIF2Bdelta
Gene
UniProtKB-ID: EI2BD_HUMAN, Q9HBP7_HUMAN, F8W8L6_HUMAN, B4DUP5_HUMAN, Q71US4_HUMAN, E7ERK9_HUMAN
UniprotKB: Q9UI10, Q9HBP7, F8W8L6, B4DUP5, Q71US4, E7ERK9
UniParc: UPI00017A7F61, UPI000173A54F, UPI0000366EE5, UPI000002A88A, UPI0000129AB2, UPI0000208145, UPI00002317D0, UPI0000073026
EMBL: BC001870, AF112207, AF218009, CH471053, AC074117, BC091502, AJ011306, AJ011305, AJ011307, AK300734, AF057699, AJ011308, JQ991007
Ensembl: ENSG00000115211
KO: hsa:8890
Nucleutide sequences
EMBL-CDS: EAX00591.1, AAY14843.1, AAF17195.1, AAH01870.1, CAB57261.1, AAH91502.1, CAB57305.1, CAB57260.1, CAB57304.1, AAG17251.1, AFM43698.1, BAG62407.1, AAQ13438.1
Ensembl_TRS: ENST00000451130, ENST00000347454, ENST00000445933, ENST00000405940, ENST00000493344
Protein sequencees
Ensembl_PRO: ENSP00000394397, ENSP00000394869, ENSP00000233552, ENSP00000384375, ENSP00000429323
RefSeq: NP_001305894.1, NP_001305897.1, NP_001305898.1, XP_011531449.1, XP_006712195.1, NP_001029288.1, NP_751945.2, NP_001305896.1, NP_001305895.1, NP_056451.3
Others
UniRef100: UniRef100_Q9UI10, UniRef100_B4DUP5, UniRef100_Q9HBP7, UniRef100_E7ERK9, UniRef100_Q71US4, UniRef100_F8W8L6
UniRef90: UniRef90_Q9UI10, UniRef90_B4DUP5, UniRef90_F8W8L6, UniRef90_A0A087WW69, UniRef90_Q9UI10-2
UniRef50: UniRef50_Q9UI10, UniRef50_F8W8L6, UniRef50_B4DUP5
UniGene: Hs.169474
CCDS: CCDS46245.1, CCDS33164.1, CCDS46244.1

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