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EIF2B4 Gene

protein-coding   GIFtS: 68
GCID: GC02M027587

Eukaryotic Translation Initiation Factor 2B, Subunit 4 Delta,...

(Previous names: eukaryotic translation initiation factor 2B, subunit 4 (delta,...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Eukaryotic Translation Initiation Factor 2B, Subunit 4 Delta, 67kDa1 2     EIF2Bdelta2
EIF-2B GDP-GTP Exchange Factor Subunit Delta2 3     Eukaryotic Translation Initiation Factor 2B Subunit 4 Delta2
Eukaryotic Translation Initiation Factor 2B, Subunit 4 (Delta, 67kD)1     Translation Initiation Factor EIF-2b Delta Subunit2
EIF-2B2     Translation Initiation Factor EIF-2B Subunit Delta2
EIF2B2     EIF2BD3

External Ids:    HGNC: 32601   Entrez Gene: 88902   Ensembl: ENSG000001152117   OMIM: 6066875   UniProtKB: Q9UI103   

Export aliases for EIF2B4 gene to outside databases

Previous GC identifers: GC00U990453 GC02M027679 GC02M027544 GC02M027562 GC02M027563 GC02M027498 GC02M027440 GC02M027329


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for EIF2B4 Gene:
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)

GeneCards Summary for EIF2B4 Gene:
EIF2B4 (eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa) is a protein-coding gene. Diseases associated with EIF2B4 include leukoencephaly with vanishing white matter, and ovarioleukodystrophy. GO annotations related to this gene include translation initiation factor binding and guanyl-nucleotide exchange factor activity.

UniProtKB/Swiss-Prot: EI2BD_HUMAN, Q9UI10
Function: Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP

Gene Wiki entry for EIF2B4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EIF2B4 gene promoter:
         AREB6   Pax-5   AP-2alpha   Tal-1beta   AP-2alphaA   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEIF2B4 promoter sequence
   Search Chromatin IP Primers for EIF2B4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EIF2B4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p23.3   Ensembl cytogenetic band:  2p23.3   HGNC cytogenetic band: 2p23.3

EIF2B4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EIF2B4 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M027587:  view genomic region     (about GC identifiers)

Start:
27,587,219 bp from pter      End:
27,593,353 bp from pter
Size:
6,135 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: EI2BD_HUMAN, Q9UI10 (See protein sequence)
Recommended Name: Translation initiation factor eIF-2B subunit delta  
Size: 523 amino acids; 57557 Da
Subunit: Complex of five different subunits; alpha, beta, gamma, delta and epsilon
Sequence caution: Sequence=CAB57305.1; Type=Erroneous gene model prediction;
Secondary accessions: Q53RY7 Q5BJF4 Q9BUV9 Q9UBG4 Q9UIQ9 Q9UJ95
Alternative splicing: 3 isoforms:  Q9UI10-1   Q9UI10-2   Q9UI10-3   

Explore the universe of human proteins at neXtProt for EIF2B4: NX_Q9UI10

Explore proteomics data for EIF2B4 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys176, Lys282, Lys466
  • Modification sites at PhosphoSitePlus

  • See EIF2B4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001029288.1  NP_056451.3  NP_751945.2  

    ENSEMBL proteins: 
     ENSP00000233552   ENSP00000384375   ENSP00000394397   ENSP00000394869   ENSP00000429323  
     ENSP00000406631   ENSP00000407956  
    Reactome Protein details: Q9UI10

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR000649 IF-2B-related

    Graphical View of Domain Structure for InterPro Entry Q9UI10

    ProtoNet protein and cluster: Q9UI10

    1 Blocks protein domain: IPB000649 Initiation factor 2B

    UniProtKB/Swiss-Prot: EI2BD_HUMAN, Q9UI10
    Similarity: Belongs to the eIF-2B alpha/beta/delta subunits family


    EIF2B4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EI2BD_HUMAN, Q9UI10
    Function: Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003743contributes to translation initiation factor activity IDA16289705
    GO:0005085contributes to guanyl-nucleotide exchange factor activity IMP15054402
    GO:0005515protein binding IPI15060152
    GO:0031369translation initiation factor binding ISS--
    GO:0046523NOT S-methyl-5-thioribose-1-phosphate isomerase activity IBA--
         
    EIF2B4 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for EIF2B4:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 

         1 MGI phenotypic allele for Eif2b4 (no phenotypes)

    EIF2B4 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EIF2B4
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    miRNA
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    hsa-mir-30a-5p (MIRT028435), hsa-mir-196a-5p (MIRT048246)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion3
    nucleus2
    peroxisome2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA11323413
    GO:0005829cytosol TAS--
    GO:0005851eukaryotic translation initiation factor 2B complex IDA11323413

    EIF2B4 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for EIF2B4 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Translation Insulin regulation of translation
    Translation Insulin regulation of translation0.59
    Recycling of eIF2-GDP0.00
    Translation Regulation activity of EIF20.47
    2Influenza Viral RNA Transcription and Replication
    Cap-dependent Translation Initiation0.89
    Translation0.82
    Eukaryotic Translation Initiation0.89
    3NFAT and Cardiac Hypertrophy
    Signaling Involved in Cardiac Hypertrophy0.42
    IGF1R Signaling0.37
    4Nanog in Mammalian ESC Pluripotency
    GSK3 Signaling0.61
    5Apoptotic Pathways in Synovial Fibroblasts
    eIF2 Pathway0.60

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for EIF2B4
        IGF1R Signaling
    GSK3 Signaling
    eIF2 Pathway
    Signaling Involved in Cardiac Hypertrophy
    Insulin Receptor Pathway

    2 GeneGo (Thomson Reuters) Pathways for EIF2B4
        Translation Insulin regulation of translation
    Translation Regulation of EIF2 activity

    1 BioSystems Pathway for EIF2B4
        Translation Factors


    1 Reactome Pathway for EIF2B4
        Recycling of eIF2:GDP


    1 Kegg Pathway  (Kegg details for EIF2B4):
        RNA transport


    EIF2B4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EIF2B4
    Interactions:

        Search GeneGlobe Interaction Network for EIF2B4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EIF2B4 (Q9UI102, 3 ENSP000003948694) via UniProtKB, MINT, STRING, and/or I2D (see all 672)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001541ovarian follicle development IMP15507143
    GO:0006412translation TAS--
    GO:0006413translational initiation TAS--
    GO:0006417regulation of translation NAS12556349
    GO:0006446regulation of translational initiation IBA--

    EIF2B4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EIF2B4 (EI2BD)

    1 HMDB Compound for EIF2B4    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for EIF2B4 gene (3 alternative transcripts): 
    NM_001034116.1  NM_015636.3  NM_172195.3  

    Unigene Cluster for EIF2B4:

    Eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
    Hs.169474  [show with all ESTs]
    Unigene Representative Sequence: AF218009
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000347454(uc002rkb.3 uc002rkc.3 uc002rke.3) ENST00000478311
    ENST00000405940 ENST00000445933 ENST00000451130 ENST00000493344(uc002rjz.3 uc002rka.3)
    ENST00000475582(uc002rkf.1) ENST00000417567 ENST00000418146 ENST00000462749

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    Additional mRNA sequence: 

    AF057699.1 AF086520.1 AF112207.1 AF218009.1 AJ011305.1 AJ011306.1 AK300734.1 AL050109.1 
    BC001870.1 BC091502.1 JQ991007.1 

    18 DOTS entries:

    DT.115222  DT.95209001  DT.97777740  DT.95209000  DT.95208995  DT.91760750  DT.100776819  DT.100837933 
    DT.95208987  DT.95208984  DT.120979261  DT.91760746  DT.97864246  DT.95208998  DT.120979518  DT.75102616 
    DT.97864245  DT.95208996 

    Selected AceView cDNA sequences (see all 213):

    AA304666 AA019076 BI763664 BU845687 BE786256 CR601596 CR603027 BM998420 
    CR625273 BI769101 CA426566 CR599714 CR602942 CR614050 BG676019 BE561262 
    CA423361 CR597283 BM664371 BC001870 BE875334 CK429653 BE561166 BQ059516 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for EIF2B4 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c · 10d · 10e · 10f ^ 11a · 11b · 11c ^
    SP1:                    -                                                                                   -     -                                   -     -   
    SP2:                                                                                                        -     -                                   -     -   
    SP3:                                                                                                        -     -                                   -     -   
    SP4:                    -                                                     -                                                                                 
    SP5:                                                                          -                                                                                 

    ExUns: 12 ^ 13 ^ 14a · 14b
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for EIF2B4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EIF2B4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGCGCTGGC
    EIF2B4 Expression
    About this image

    EIF2B4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EIF2B4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.169474
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for EIF2B4 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Eif2b41 , 5 eukaryotic translation initiation factor 2B, subunit more1, 5 87.16(n)1
    87.93(a)1
      5 (17.24 cM)5
    136671  NM_010122.21  NP_034252.21 
     311875585 
    chicken
    (Gallus gallus)
    Aves EIF2B41 eukaryotic translation initiation factor 2B, subunit more 65.74(n)
    68.86(a)
      425800  XM_423512.4  XP_423512.2 
    lizard
    (Anolis carolinensis)
    Reptilia EIF2B46
    eukaryotic translation initiation factor 2B, subun...
    65(a)
    1 ↔ 1
    GL344822.1(5414-19916)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX843258.12   -- 73.45(n)    BX843258.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb54a092 Transcribed sequence with weak similarity to protein more 76.76(n)    57089034 
    fruit fly
    (Drosophila melanogaster)
    Insecta eIF2B-delta6
    eIF2B-delta
    34(a)
    1 ↔ 1
    2R(19274016-19276575)
    worm
    (Caenorhabditis elegans)
    Secernentea F11A3.26
    Protein F11A3.2, isoform a
    21(a)
    1 ↔ 1
    V(9513854-9517574) WBGene00008670
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GCD2(YGR083C)4 Delta subunit of the translation initiation factor more   --   7(646815-644860) 852974  NP_011597.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G386401 AT5G38640 50.89(n)
    47.33(a)
      833854  NM_123225.3  NP_198680.1 
    rice
    (Oryza sativa)
    Liliopsida Os.234532 Transcribed sequence with weak similarity to protein more 73.33(n)    CA759625.1 


    ENSEMBL Gene Tree for EIF2B4 (if available)
    TreeFam Gene Tree for EIF2B4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EIF2B4 gene
    1 SIMAP similar gene for EIF2B4 using alignment to 5 protein entries:     EI2BD_HUMAN (see all proteins):
    DKFZp586J0119

    EIF2B4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EIF2B4 (see all 279)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0168434
    Leukodystrophy with vanishing white matter (VWM)4--see VAR_0168432 C R mis40--------
    VAR_0154084
    Leukodystrophy with vanishing white matter (VWM)4--see VAR_0154082 R C mis40--------
    VAR_0154054
    Leukodystrophy with vanishing white matter (VWM)4--see VAR_0154052 A V mis40--------
    VAR_0684564
    Leukodystrophy with vanishing white matter (VWM)4--see VAR_0684562 L R mis40--------
    VAR_0684554
    Leukodystrophy with vanishing white matter (VWM)4--see VAR_0684552 R Q mis40--------
    VAR_0168444
    Leukodystrophy with vanishing white matter (VWM)4--see VAR_0168442 Y H mis40--------
    VAR_0154074
    Leukodystrophy with vanishing white matter (VWM)4--see VAR_0154072 R Q mis40--------
    rs1139940401,2
    Cpathogenic127510437(-) TAGTCC/TATGAT 6 H Y mis10--------
    rs1139940381,2
    Cpathogenic127510509(-) TGCAAC/TGTAAG 6 R C mis10--------
    rs1139940351,2
    Cpathogenic127512763(-) CACTAC/TGTTCT 6 R C mis11Minor allele frequency- T:0.00NA 4552

    HapMap Linkage Disequilibrium report for EIF2B4 (27587219 - 27593353 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for EIF2B4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv873754CNV Loss21882294
    dgv4072n71CNV Loss21882294
    nsv873757CNV Loss21882294
    nsv833614CNV Gain17160897

    Human Gene Mutation Database (HGMD): EIF2B4
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing EIF2B4
    DNA2.0 Custom Variant and Variant Library Synthesis for EIF2B4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606687   
    OMIM disorders: 603896  
    UniProtKB/Swiss-Prot: EI2BD_HUMAN, Q9UI10
  • Leukodystrophy with vanishing white matter (VWM) [MIM:603896]: 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 17 diseases for EIF2B4:    
    About MalaCards
    leukoencephaly with vanishing white matter    ovarioleukodystrophy    eif2b4-related childhood ataxia with central nervous system hypomyelination/vanishing white matter    childhood ataxia with central nervous system hypomyelination/vanishing white matter
    leukodystrophy    premature ovarian failure    was-related disorders    chronic fatigue syndrome
    optic atrophy    cerebellar ataxia    ataxia    spasticity
    multiple sclerosis    obesity    multiple myeloma    malaria
    myeloma

    1 disease from the University of Copenhagen DISEASES database for EIF2B4:
    Optic atrophy

    EIF2B4 for disorders           About GeneDecksing

    GeneTests: EIF2B4
    GeneReviews: EIF2B4
    Genetic Association Database (GAD): EIF2B4
    Human Genome Epidemiology (HuGE) Navigator: EIF2B4 (3 documents)

    Export disorders for EIF2B4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for EIF2B4 gene, integrated from 10 sources (see all 61):
    (articles sorted by number of sources associating them with EIF2B4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    2. Use of genome-wide expression data to mine the &quot;Gray Zone&quot; of GWA studies leads to novel candidate obesity genes. (PubMed id 20532202)1, 4 Naukkarinen J....Peltonen L. (PLoS Genet. 2010)
    3. No evidence that polymorphisms of the vanishing white matter disease genes are risk factors in multiple sclerosis. (PubMed id 18632786)1, 4 Pronk J....van der Knaap M. (Mult. Scler. 2008)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Ovarian failure related to eukaryotic initiation factor 2B mutations. (PubMed id 12707859)1, 2 Fogli A....Boespflug-Tanguy O. (Am. J. Hum. Genet. 2003)
    6. Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. (PubMed id 11835386)1, 2 van der Knaap M.S.... Pronk J.C. (Ann. Neurol. 2002)
    7. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    8. eIF2B, the guanine nucleotide-exchange factor for eukaryotic initiation factor 2. Sequence conservation between the alpha, beta and delta subunits of eIF2B from mammals and yeast. (PubMed id 8929216)1, 3 Price N.T....Proud C.G. (Biochem. J. 1996)
    9. The delta-subunit of murine guanine nucleotide exchange factor eIF-2B. Characterization of cDNAs predicts isoforms differing at the amino-terminal end. (PubMed id 7982969)1, 3 Henderson R.A....Dholakia J.N. (J. Biol. Chem. 1994)
    10. Identification of ten novel mutations in patients with eIF2B-related disorders. (PubMed id 15776425)2, 9 Ohlenbusch A.... Gartner J. (Hum. Mutat. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8890 HGNC: 3260 AceView: EIF2B4 Ensembl:ENSG00000115211 euGenes: HUgn8890
    ECgene: EIF2B4 Kegg: 8890 H-InvDB: EIF2B4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for EIF2B4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=EIF2B4[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EIF2B4 gene:
    Search GeneIP for patents involving EIF2B4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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