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EIF2B3 Gene

protein-coding   GIFtS: 64
GCID: GC01M045316

Eukaryotic Translation Initiation Factor 2B, Subunit 3 Gamma,...

(Previous names: eukaryotic translation initiation factor 2B, subunit 3 (gamma,...)
  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 3 Gamma, 58kDa1 2
EIF-2B GDP-GTP Exchange Factor Subunit Gamma2 3
Eukaryotic Translation Initiation Factor 2B, Subunit 3 (Gamma, 58kD)1
EIF-2B2
EIF2Bgamma2
Translation Initiation Factor EIF-2B Subunit Gamma2

External Ids:    HGNC: 32591   Entrez Gene: 88912   Ensembl: ENSG000000707857   OMIM: 6062735   UniProtKB: Q9NR503   

Export aliases for EIF2B3 gene to outside databases

Previous GC identifers: GC01M045043 GC01M044316 GC01M044746 GC01M044729 GC01M044985 GC01M045089 GC01M043428


(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 EIF2B3 Gene:
The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange
of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of
hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated
with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different
isoforms have been found for this gene. (provided by RefSeq, Oct 2009)

GeneCards Summary for EIF2B3 Gene:
EIF2B3 (eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa) is a protein-coding gene. Diseases associated with EIF2B3 include eif2b3-related childhood ataxia with central nervous system hypomyelination/vanishing white matter, and childhood ataxia with central nervous system hypomyelination/vanishing white matter. GO annotations related to this gene include translation factor activity, nucleic acid binding and guanyl-nucleotide exchange factor activity.

UniProtKB/Swiss-Prot: EI2BG_HUMAN, Q9NR50
Function: Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP

Gene Wiki entry for EIF2B3 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_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the EIF2B3 gene promoter:
         p53   Pax-2   FOXD3   Pax-2a   Tal-1beta   E47   CP2   POU2F1   POU2F1a   ZIC2/Zic2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEIF2B3 promoter sequence
   Search Chromatin IP Primers for EIF2B3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EIF2B3


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

Entrez Gene cytogenetic band: 1p34.1   Ensembl cytogenetic band:  1p34.1   HGNC cytogenetic band: 1p34.1

EIF2B3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EIF2B3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M045316:  view genomic region     (about GC identifiers)

Start:
45,316,194 bp from pter      End:
45,452,361 bp from pter
Size:
136,168 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: EI2BG_HUMAN, Q9NR50 (See protein sequence)
Recommended Name: Translation initiation factor eIF-2B subunit gamma  
Size: 452 amino acids; 50240 Da
Subunit: Complex of five different subunits; alpha, beta, gamma, delta and epsilon
Secondary accessions: B2RBH8 D3DPZ2 Q5QP89 Q5QP90 Q8NDB5 Q8WV57 Q9H850
Alternative splicing: 3 isoforms:  Q9NR50-1   Q9NR50-2   Q9NR50-3   

Explore the universe of human proteins at neXtProt for EIF2B3: NX_Q9NR50

Explore proteomics data for EIF2B3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys259
  • Modification sites at PhosphoSitePlus

  • See EIF2B3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001160060.1  NP_001248347.1  NP_065098.1  

    ENSEMBL proteins: 
     ENSP00000396985   ENSP00000353575   ENSP00000361257   ENSP00000361256  
    Reactome Protein details: Q9NR50

    EIF2B3 Human Recombinant Protein Products:

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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:
     IPR005835 NTP_transferase

    Graphical View of Domain Structure for InterPro Entry Q9NR50

    ProtoNet protein and cluster: Q9NR50

    1 Blocks protein domain: IPB005835 Nucleotidyl transferase

    UniProtKB/Swiss-Prot: EI2BG_HUMAN, Q9NR50
    Similarity: Belongs to the eIF-2B gamma/epsilon subunits family


    EIF2B3 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: EI2BG_HUMAN, Q9NR50
    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 IDA10900014
    GO:0005085contributes to guanyl-nucleotide exchange factor activity IMP15054402
    GO:0005515protein binding IPI15060152
    GO:0008135contributes to translation factor activity, nucleic acid binding IDA10900014
    GO:0016779nucleotidyltransferase activity IEA--
         
    EIF2B3 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for EIF2B3:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EIF2B3
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    miRNA
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    miRTarBase miRNAs that target EIF2B3:
    hsa-mir-615-3p (MIRT039698), hsa-let-7b-5p (MIRT032349), hsa-mir-320a (MIRT044579)

    Block miRNA regulation of human, mouse, rat EIF2B3 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate EIF2B3:
    hsa-miR-4254 hsa-miR-654-5p hsa-miR-892a hsa-miR-552 hsa-miR-541
    SwitchGear 3'UTR luciferase reporter plasmidEIF2B3 3' UTR sequence
    Inhib. RNA
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    Sino Biological Human cDNA Clone for EIF2B3
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EIF2B3


    (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
    nucleus2
    plasma membrane1

    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

    EIF2B3 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 EIF2B3 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 EIF2B3
        IGF1R Signaling
    GSK3 Signaling
    eIF2 Pathway
    Signaling Involved in Cardiac Hypertrophy
    Insulin Receptor Pathway

    2 GeneGo (Thomson Reuters) Pathways for EIF2B3
        Translation Insulin regulation of translation
    Translation Regulation of EIF2 activity

    1 BioSystems Pathway for EIF2B3
        Translation Factors


    1 Reactome Pathway for EIF2B3
        Recycling of eIF2:GDP


    1 Kegg Pathway  (Kegg details for EIF2B3):
        RNA transport


    EIF2B3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EIF2B3
    Interactions:

        Search GeneGlobe Interaction Network for EIF2B3

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

    Selected Interacting proteins for EIF2B3 (Q9NR503 ENSP000003535754) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NDUFB8O951693, ENSP000002991664I2D: score=4 STRING: ENSP00000299166
    STC2O760613, ENSP000002650874I2D: score=4 STRING: ENSP00000265087
    EIF2B5Q131443, ENSP000002737834I2D: score=1 STRING: ENSP00000273783
    EIF2S1P051983, ENSP000002563834I2D: score=1 STRING: ENSP00000256383
    EIF2S2P200423, ENSP000003641194I2D: score=1 STRING: ENSP00000364119
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006412translation TAS--
    GO:0006413translational initiation TAS--
    GO:0006417regulation of translation ----
    GO:0009058biosynthetic process ----
    GO:0009408response to heat TAS12499492

    EIF2B3 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 EIF2B3 (EI2BG)

    1 HMDB Compound for EIF2B3    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 EIF2B3 gene (3 alternative transcripts): 
    NM_001166588.2  NM_001261418.1  NM_020365.4  

    Unigene Cluster for EIF2B3:

    Eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
    Hs.533549  [show with all ESTs]
    Unigene Representative Sequence: NM_020365
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000439363 ENST00000360403(uc001cmt.2 uc001cmu.2) ENST00000486491
    ENST00000372183(uc001cmw.3) ENST00000480675 ENST00000477953 ENST00000372182
    ENST00000487532 ENST00000497010
    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate EIF2B3:
    hsa-miR-4254 hsa-miR-654-5p hsa-miR-892a hsa-miR-552 hsa-miR-541
    SwitchGear 3'UTR luciferase reporter plasmidEIF2B3 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat EIF2B3
      QuantiFast Probe-based Assays in human, mouse, rat EIF2B3

    Additional mRNA sequence: 

    AF257077.1 AK022399.1 AK024006.1 AK314668.1 AL834288.1 BC014234.2 BC018728.1 BC021017.1 
    CR457285.1 

    14 DOTS entries:

    DT.452894  DT.95280158  DT.100707958  DT.97841887  DT.100797014  DT.101983092  DT.121425789  DT.95339347 
    DT.91750921  DT.436328  DT.75111369  DT.91893136  DT.95215687  DT.91797859 

    Selected AceView cDNA sequences (see all 220):

    BQ057609 F34596 F31617 AI637675 BF592850 AA322492 BE796012 BP339843 
    AW351990 AA703831 CR592553 BM692778 AI143649 CB218437 BE298057 C21034 
    CR599300 BU608183 BM904069 AA587233 BQ428087 BU182742 CR601681 BX353596 

    GeneLoc Exon Structure


    (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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    EIF2B3 expression in normal human tissues (normalized intensities)      EIF2B3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGATCTGAG
    EIF2B3 Expression
    About this image


    EIF2B3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    EIF2B3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EIF2B3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.533549
        Custom PCR Arrays for EIF2B3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EIF2B3

    (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 EIF2B3 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Eif2b31 , 5 eukaryotic translation initiation factor 2B, subunit more1, 5 88.94(n)1
    91.81(a)1
      4 (53.41 cM)5
    1080671  NM_001111277.11  NP_001104747.11 
     1170194025 
    chicken
    (Gallus gallus)
    Aves EIF2B31 eukaryotic translation initiation factor 2B, subunit more 69.73(n)
    70.8(a)
      424587  NM_001031280.1  NP_001026451.1 
    lizard
    (Anolis carolinensis)
    Reptilia EIF2B36
    eukaryotic translation initiation factor 2B, subun...
    72(a)
    1 ↔ 1
    4(110752388-110859778)
    African clawed frog
    (Xenopus laevis)
    Amphibia eif2b3-prov2 eukaryotic translation initiation factor 2B, subunit more 76.26(n)    BC041256.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc564732 similar to eukaryotic translation initiation factor more 74.31(n)   394049  BC052109.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta eIF2B-gamma1 eIF2B-gamma 48.42(n)
    37.41(a)
      36722  NM_137202.2  NP_611046.2 
    worm
    (Caenorhabditis elegans)
    Secernentea ppp-11 ppp-1 43.45(n)
    31.93(a)
      174138  NM_063027.5  NP_495428.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GCD1(YOR260W)4 Gamma subunit of the translation initiation factor more   --   15(813984-815720) 854434  NP_014903.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G194851 AT5G19485 45.12(n)
    30.47(a)
      3770677  NM_001036831.3  NP_001031908.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g03389001 Os06g0338900 44.68(n)
    34.27(a)
      4340947  NM_001064096.1  NP_001057561.1 


    ENSEMBL Gene Tree for EIF2B3 (if available)
    TreeFam Gene Tree for EIF2B3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EIF2B3 gene
    7 SIMAP similar genes for EIF2B3 using alignment to 4 protein entries:     EI2BG_HUMAN (see all proteins):
    AURA2    LINC00596    NF2    DNAPTP3    FAM175A    GLT8D2
    HMGA2

    EIF2B3 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 EIF2B3 (see all 2683)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0154094
    Leukodystrophy with vanishing white matter (VWM)4--see VAR_0154092 A V mis40--------
    VAR_0684724
    Leukodystrophy with vanishing white matter (VWM)4--see VAR_0684722 I T mis40--------
    VAR_0684714
    Leukodystrophy with vanishing white matter (VWM)4--see VAR_0684712 G E mis40--------
    VAR_0154104
    Leukodystrophy with vanishing white matter (VWM)4--see VAR_0154102 R Q mis40--------
    VAR_0684704
    Leukodystrophy with vanishing white matter (VWM)4--see VAR_0684702 L Q mis40--------
    rs1139940241,2
    Cpathogenic145425281(-) TATCCA/GGAGTG 6 Q R mis10--------
    rs1139940231,2
    Cpathogenic145485107(-) AGGCCA/CAGATA 6 Q P mis10--------
    rs1139940221,2
    Cpathogenic145521800(-) AACTGC/TAGATT 6 A V mis10--------
    rs1931195441,2
    C--45318465(+) AAAAAA/CAAACA 2 -- int10--------
    rs57738551,2
    C--45323742(+) ttttt-/TTttttt 2 -- int1 trp30--------

    HapMap Linkage Disequilibrium report for EIF2B3 (45316194 - 45452361 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for EIF2B3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2630872CNV Deletion19546169
    esv2474011CNV Deletion19546169
    esv2747774CNV Deletion23290073
    nsv870815CNV Loss21882294

    Human Gene Mutation Database (HGMD): EIF2B3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EIF2B3
    DNA2.0 Custom Variant and Variant Library Synthesis for EIF2B3

    (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: 606273   
    OMIM disorders: 603896  
    UniProtKB/Swiss-Prot: EI2BG_HUMAN, Q9NR50
  • 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

  • Selected diseases for EIF2B3 (see all 21):    About MalaCards
    eif2b3-related childhood ataxia with central nervous system hypomyelination/vanishing white matter    childhood ataxia with central nervous system hypomyelination/vanishing white matter    ovarioleukodystrophy    leukodystrophy
    hepatitis c    hepatitis c virus    hepatitis    optic atrophy
    was-related disorders    cerebellar ataxia    ataxia    spasticity
    multiple sclerosis    tonsillitis    thyroiditis    multiple myeloma
    myeloma    cerebritis    malaria    endotheliitis


    EIF2B3 for disorders           About GeneDecksing

    GeneTests: EIF2B3
    GeneReviews: EIF2B3
    Genetic Association Database (GAD): EIF2B3
    Human Genome Epidemiology (HuGE) Navigator: EIF2B3 (3 documents)

    Export disorders for EIF2B3 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 EIF2B3 gene, integrated from 10 sources (see all 49):
    (articles sorted by number of sources associating them with EIF2B3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of eIF2B gamma and eIF2 gamma as cofactors of hepatitis C virus internal ribosome entry site-mediated translation using a functional genomics approach. (PubMed id 10900014)1, 2, 3 Krueger M.... Wong-Staal F. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    2. Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. (PubMed id 21484434)1, 2 Matsukawa T.... Tsuji S. (Neurogenetics 2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. 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)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. 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)
    8. 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)
    9. Characterization of the EGFR interactome reveals associated protein complex networks and intracellular receptor dynamics. (PubMed id 23956138)1 Foerster S....Ritter C.A. (Proteomics 2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

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

      Query String
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    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: 8891 HGNC: 3259 AceView: EIF2B3 Ensembl:ENSG00000070785 euGenes: HUgn8891
    ECgene: EIF2B3 Kegg: 8891 H-InvDB: EIF2B3

    (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)
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    NameDescription
    PharmGKB entry for EIF2B3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=EIF2B3[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 EIF2B3 gene:
    Search GeneIP for patents involving EIF2B3

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



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