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gene: EIF4G2

id1982
symbolEIF4G2
organismHomo sapiens
full nameeukaryotic translation initiation factor 4 gamma 2
summaryTranslation initiation is mediated by specific recognition of the cap structure by eukaryotic translation initiation factor 4F (eIF4F), which is a cap binding protein complex that consists of three subunits: eIF4A, eIF4E and eIF4G. The protein encoded by this gene shares similarity with the C-terminal region of eIF4G that contains the binding sites for eIF4A and eIF3; eIF4G, in addition, contains a binding site for eIF4E at the N-terminus. Unlike eIF4G, which supports cap-dependent and independent translation, this gene product functions as a general repressor of translation by forming translationally inactive complexes. In vitro and in vivo studies indicate that translation of this mRNA initiates exclusively at a non-AUG (GUG) codon. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]
variant-disease

GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1 AND See cases

GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) AND Russell-Silver syndrome

GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 AND See cases

GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 AND See cases

GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 AND not provided

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