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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:183,852,810-183,863,099)mRNA (may differ from genome)Protein (721 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCEUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  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

-  MalaCards Disease Associations
  MalaCards Gene Search: EIF2B5
Diseases sorted by gene-association score: leukoencephalopathy with vanishing white matter* (1601), childhood ataxia with central nervous system hypomyelination/vanishing white matter* (500), eif2b5-related childhood ataxia with central nervous system hypomyelination/vanishing white matter* (100), leukodystrophy (29), partial motor epilepsy (17), megalencephaly (5), cerebral degeneration (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 26.62 RPKM in Brain - Cerebellum
Total median expression: 812.08 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -122.29364-0.336 Picture PostScript Text
3' UTR -150.50368-0.409 Picture PostScript Text

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
  InterPro Domains: Graphical view of domain structure
IPR016024 - ARM-type_fold
IPR001451 - Hexapep_transf
IPR016021 - MIF4-like_typ_1/2/3
IPR011004 - Trimer_LpxA-like
IPR003307 - W2_domain

Pfam Domains:
PF00132 - Bacterial transferase hexapeptide (six repeats)
PF02020 - eIF4-gamma/eIF5/eIF2-epsilon
PF14602 - Hexapeptide repeat of succinyl-transferase

SCOP Domains:
48371 - ARM repeat
51161 - Trimeric LpxA-like enzymes
53448 - Nucleotide-diphospho-sugar transferases

Protein Data Bank (PDB) 3-D Structure
MuPIT help

3JUI
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q13144
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene Details  Gene DetailsGene DetailsGene Details
Gene Sorter  Gene SorterGene SorterGene Sorter
  EnsemblFlyBaseWormBaseSGD
  Protein SequenceProtein SequenceProtein SequenceProtein Sequence
  AlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003743 translation initiation factor activity
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0031369 translation initiation factor binding

Biological Process:
GO:0001541 ovarian follicle development
GO:0006412 translation
GO:0006413 translational initiation
GO:0007568 aging
GO:0009408 response to heat
GO:0009749 response to glucose
GO:0010226 response to lithium ion
GO:0014002 astrocyte development
GO:0014003 oligodendrocyte development
GO:0021766 hippocampus development
GO:0034976 response to endoplasmic reticulum stress
GO:0042552 myelination
GO:0043065 positive regulation of apoptotic process
GO:0043434 response to peptide hormone
GO:0045727 positive regulation of translation
GO:0045948 positive regulation of translational initiation
GO:0048708 astrocyte differentiation
GO:0050852 T cell receptor signaling pathway

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005851 eukaryotic translation initiation factor 2B complex


-  Descriptions from all associated GenBank mRNAs
  AK310207 - Homo sapiens cDNA, FLJ17249.
AK056400 - Homo sapiens cDNA FLJ31838 fis, clone NT2RP7000076, weakly similar to TRANSLATION INITIATION FACTOR EIF-2B EPSILON SUBUNIT.
BC053646 - Homo sapiens eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa, mRNA (cDNA clone IMAGE:5203307), with apparent retained intron.
BC050476 - Homo sapiens eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa, mRNA (cDNA clone IMAGE:5737861), with apparent retained intron.
LF210546 - JP 2014500723-A/18049: Polycomb-Associated Non-Coding RNAs.
AK091646 - Homo sapiens cDNA FLJ34327 fis, clone FEBRA2009022, highly similar to TRANSLATION INITIATION FACTOR EIF-2B EPSILON SUBUNIT.
AX747110 - Sequence 635 from Patent EP1308459.
JD405011 - Sequence 386035 from Patent EP1572962.
BC013590 - Homo sapiens eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa, mRNA (cDNA clone MGC:9947 IMAGE:3876105), complete cds.
AL832179 - Homo sapiens mRNA; cDNA DKFZp686M1416 (from clone DKFZp686M1416).
AK307347 - Homo sapiens cDNA, FLJ97295.
JD333106 - Sequence 314130 from Patent EP1572962.
DQ891483 - Synthetic construct clone IMAGE:100004113; FLH177367.01X; RZPDo839G11124D eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa (EIF2B5) gene, encodes complete protein.
DQ894670 - Synthetic construct Homo sapiens clone IMAGE:100009130; FLH177364.01L; RZPDo839G11123D eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa (EIF2B5) gene, encodes complete protein.
AB208821 - Homo sapiens mRNA for eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa variant protein.
LF338721 - JP 2014500723-A/146224: Polycomb-Associated Non-Coding RNAs.
U23028 - Human eukaryotic initiation factor 2B-epsilon mRNA, partial cds.
LF338723 - JP 2014500723-A/146226: Polycomb-Associated Non-Coding RNAs.
LF338724 - JP 2014500723-A/146227: Polycomb-Associated Non-Coding RNAs.
LF338726 - JP 2014500723-A/146229: Polycomb-Associated Non-Coding RNAs.
LF338728 - JP 2014500723-A/146231: Polycomb-Associated Non-Coding RNAs.
LF338729 - JP 2014500723-A/146232: Polycomb-Associated Non-Coding RNAs.
LF338730 - JP 2014500723-A/146233: Polycomb-Associated Non-Coding RNAs.
JD260072 - Sequence 241096 from Patent EP1572962.
JD091882 - Sequence 72906 from Patent EP1572962.
JD081319 - Sequence 62343 from Patent EP1572962.
JD468237 - Sequence 449261 from Patent EP1572962.
JD392904 - Sequence 373928 from Patent EP1572962.
JD197238 - Sequence 178262 from Patent EP1572962.
JD090408 - Sequence 71432 from Patent EP1572962.
JD273923 - Sequence 254947 from Patent EP1572962.
JD068649 - Sequence 49673 from Patent EP1572962.
JD210630 - Sequence 191654 from Patent EP1572962.
JD394848 - Sequence 375872 from Patent EP1572962.
JD475476 - Sequence 456500 from Patent EP1572962.
JD177758 - Sequence 158782 from Patent EP1572962.
JD170358 - Sequence 151382 from Patent EP1572962.
JD073558 - Sequence 54582 from Patent EP1572962.
JD131841 - Sequence 112865 from Patent EP1572962.
MA446123 - JP 2018138019-A/18049: Polycomb-Associated Non-Coding RNAs.
MA574298 - JP 2018138019-A/146224: Polycomb-Associated Non-Coding RNAs.
MA574300 - JP 2018138019-A/146226: Polycomb-Associated Non-Coding RNAs.
MA574301 - JP 2018138019-A/146227: Polycomb-Associated Non-Coding RNAs.
MA574303 - JP 2018138019-A/146229: Polycomb-Associated Non-Coding RNAs.
MA574305 - JP 2018138019-A/146231: Polycomb-Associated Non-Coding RNAs.
MA574306 - JP 2018138019-A/146232: Polycomb-Associated Non-Coding RNAs.
MA574307 - JP 2018138019-A/146233: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_vegfPathway - VEGF, Hypoxia, and Angiogenesis
h_igf1mtorpathway - Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway
h_eif2Pathway - Regulation of eIF2

Reactome (by CSHL, EBI, and GO)

Protein Q13144 (Reactome details) participates in the following event(s):

R-HSA-72670 Formation of eIF2:GDP:eIF2B intermediate
R-HSA-72722 eIF2 activation
R-HSA-72731 Recycling of eIF2:GDP
R-HSA-72737 Cap-dependent Translation Initiation
R-HSA-72613 Eukaryotic Translation Initiation
R-HSA-72766 Translation
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: EI2BE_HUMAN, EIF2BE, NM_003907, NP_003898, Q13144, Q541Z1, Q96D04
UCSC ID: uc003fmp.3
RefSeq Accession: NM_003907
Protein: Q13144 (aka EI2BE_HUMAN)
CCDS: CCDS3252.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene EIF2B5:
cach (Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_003907.2
exon count: 16CDS single in 3' UTR: no RNA size: 2898
ORF size: 2166CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4372.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.