Human Gene EIF2B5 (uc003fmp.3) Description and Page Index
Description: Homo sapiens eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa (EIF2B5), mRNA. RefSeq Summary (NM_003907): This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.231381.1, SRR1803612.95745.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000648915.2/ ENSP00000497160.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr3:183,852,810-183,863,099 Size: 10,290 Total Exon Count: 16 Strand: + Coding Region Position: hg19 chr3:183,853,174-183,862,731 Size: 9,558 Coding Exon Count: 16
ID:EI2BE_HUMAN DESCRIPTION: RecName: Full=Translation initiation factor eIF-2B subunit epsilon; AltName: Full=eIF-2B GDP-GTP exchange factor subunit epsilon; FUNCTION: Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. SUBUNIT: Complex of five different subunits; alpha, beta, gamma, delta and epsilon. Interacts with RGS2. PTM: Phosphorylated on serine and threonine residues by GSK3B; phosphorylation inhibits its function. DISEASE: Defects in EIF2B5 are a cause of leukodystrophy with vanishing white matter (VWM) [MIM:603896]. VWM is a leukodystrophy that occurs mainly in children. Neurological signs include progressive cerebellar ataxia, spasticity, inconstant optic atrophy and relatively preserved mental abilities. The disease is chronic-progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. While childhood onset is the most common form of the disorder, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood. Some females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. SIMILARITY: Belongs to the eIF-2B gamma/epsilon subunits family. SIMILARITY: Contains 1 W2 domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EIF2B5"; WEB RESOURCE: Name=Mendelian genes eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa (EIF2B5); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/EIF2B5";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): EIF2B5 CDC HuGE Published Literature: EIF2B5
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.
ModBase Predicted Comparative 3D Structure on Q13144
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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.