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8892 EIF2B2

8892

EIF2B2

eukaryotic translation initiation factor 2B subunit beta

protein-coding

Homo sapiens

基因描述

Type Description
Definition eukaryotic translation initiation factor 2B subunit beta

研究结论

Date Results Publications
2017-12-16 11:08:00 Data show that eIF2Balpha and eIF2Bbeta bind to adjacent surfaces on eIF2alpha-N-terminal domains (NTDs). 29036434
2017-04-15 12:04:00 It would be better to consider Vanishing White Matter Disease as an eIF2B-related multisystem disorder, not just as a neurological disorder. 28041799
2014-03-22 10:27:00 An Italian patient is described with a c.638A>G mutation in exon 5 of EIF2B2 gene with very slow progressive vanishing white matter disease. 22729508
2012-04-14 10:29:00 analysis of vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype [case report] 22285377
2010-12-05 22:09:00 Observational study of gene-disease association. (HuGE Navigator) 20734064

名称对应

Type IDs
Synonymous EIF-2Bbeta, EIF2B
Gene
UniProtKB-ID: EI2BB_HUMAN, Q53XC2_HUMAN
UniprotKB: P49770, Q53XC2
UniParc: UPI0000000CB9
EMBL: AF035280, AC006530, L40395, BX161473, CH471061, BC011750
Ensembl: ENSG00000119718
KO: hsa:8892
Nucleutide sequences
EMBL-CDS: AAC42002.1, AAD30183.1, AAH11750.1, AAB88176.1, EAW81210.1, CAD61929.1
Gene_ORFName: hCG_22350
Ensembl_TRS: ENST00000266126
Protein sequencees
Ensembl_PRO: ENSP00000266126
RefSeq: NP_055054.1
Others
UniRef100: UniRef100_P49770
UniRef90: UniRef90_P49770
UniRef50: UniRef50_P49770
UniGene: Hs.409137
CCDS: CCDS9836.1

全选

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研究热度

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