Human Gene EIF2B4 (uc002rjz.3) Description and Page Index
Description: Homo sapiens eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa (EIF2B4), transcript variant 1, mRNA. RefSeq Summary (NM_172195): Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr2:27,587,219-27,592,919 Size: 5,701 Total Exon Count: 12 Strand: - Coding Region Position: hg19 chr2:27,587,267-27,592,880 Size: 5,614 Coding Exon Count: 12
Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder He C et al. 2010, A large-scale candidate gene association study of age at menarche and age at natural menopause., Human genetics 128(5) : 515-27 2010.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
Pfam Domains: PF01008 - Initiation factor 2 subunit family
ModBase Predicted Comparative 3D Structure on Q9UI10-2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.