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 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:27,587,219-27,592,919)mRNA (may differ from genome)Protein (543 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
OMIMPubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): EIF2B4
CDC HuGE Published Literature: EIF2B4
Positive Disease Associations: Natural Menopause|Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder
Related Studies:
  1. 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. [PubMed 20734064]

-  MalaCards Disease Associations
  MalaCards Gene Search: EIF2B4
Diseases sorted by gene-association score: leukoencephalopathy with vanishing white matter* (917), childhood ataxia with central nervous system hypomyelination/vanishing white matter* (283), eif2b4-related childhood ataxia with central nervous system hypomyelination/vanishing white matter* (100), leukodystrophy (11), biotinidase deficiency (7), glycine encephalopathy (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: 43.56 RPKM in Testis
Total median expression: 949.09 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 -13.6039-0.349 Picture PostScript Text
3' UTR -10.1748-0.212 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
  Pfam Domains:
PF01008 - Initiation factor 2 subunit family

SCOP Domains:
100950 - NagB/RpiA/CoA transferase-like

ModBase Predicted Comparative 3D Structure on Q9UI10-2
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 orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AF112207 - Homo sapiens translation initiation factor eIF-2b delta subunit mRNA, complete cds.
JQ991007 - Homo sapiens eukaryotic translation initiation factor 2B subunit 4 delta transcript variant 4 (EIF2B4) mRNA, complete cds, alternatively spliced.
AF086520 - Homo sapiens full length insert cDNA clone ZE04B07.
AL050109 - Homo sapiens mRNA; cDNA DKFZp586J0119 (from clone DKFZp586J0119); partial cds.
BC001870 - Homo sapiens eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa, mRNA (cDNA clone MGC:1204 IMAGE:3534267), complete cds.
AF057699 - Homo sapiens EIF-2B-delta-like protein mRNA, complete cds.
AJ011306 - Homo sapiens mRNA for guanine nucleotide exchange factor, long isoform.
AF218009 - Homo sapiens clone PP361 unknown mRNA.
BC091502 - Homo sapiens eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa, mRNA (cDNA clone MGC:111099 IMAGE:30377783), complete cds.
AJ011305 - Homo sapiens mRNA for guanine nucleotide exchange factor, delta subunit, short isoform.
KJ892648 - Synthetic construct Homo sapiens clone ccsbBroadEn_02042 EIF2B4 gene, encodes complete protein.
KR709828 - Synthetic construct Homo sapiens clone CCSBHm_00006441 EIF2B4 (EIF2B4) mRNA, encodes complete protein.
KR709829 - Synthetic construct Homo sapiens clone CCSBHm_00006448 EIF2B4 (EIF2B4) mRNA, encodes complete protein.
KR712217 - Synthetic construct Homo sapiens clone CCSBHm_00900170 EIF2B4 (EIF2B4) mRNA, encodes complete protein.
AB209532 - Homo sapiens mRNA for eukaryotic translation initiation factor 2B, subunit 4 delta long isoform variant protein.
AK300734 - Homo sapiens cDNA FLJ60165 complete cds, highly similar to Translation initiation factor eIF-2B subunit delta.
CU674900 - Synthetic construct Homo sapiens gateway clone IMAGE:100017685 5' read EIF2B4 mRNA.
JD027141 - Sequence 8165 from Patent EP1572962.
JD033223 - Sequence 14247 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_vegfPathway - VEGF, Hypoxia, and Angiogenesis

Reactome (by CSHL, EBI, and GO)

Protein Q9UI10 (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: EIF2BD, NM_172195, NP_751945, Q9UI10-2
UCSC ID: uc002rjz.3
RefSeq Accession: NM_172195
Protein: Q9UI10-2, splice isoform of Q9UI10 CCDS: CCDS46245.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene EIF2B4:
cach (Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_172195.3
exon count: 12CDS single in 3' UTR: no RNA size: 1719
ORF size: 1632CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3464.00frame 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.