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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EIF2B5 Gene

protein-coding   GIFtS: 66
GCID: GC03P183852

Eukaryotic Translation Initiation Factor 2B, Subunit 5 Epsilon,...

(Previous names: eukaryotic translation initiation factor 2B, subunit 5 (epsilon,...)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Eukaryotic Translation Initiation Factor 2B, Subunit 5 Epsilon,
82kDa1 2
     Eukaryotic Translation Initiation Factor 2B, Subunit 5 (Epsilon, 82kD)1
EIF-2B GDP-GTP Exchange Factor Subunit Epsilon2 3     EIF-2B2
CACH2 5     EIF2Bepsilon2
CLE2 5     Translation Initiation Factor EIF-2B Subunit Epsilon2
LVWM2 5     EIF2BE3

External Ids:    HGNC: 32611   Entrez Gene: 88932   Ensembl: ENSG000001451917   OMIM: 6039455   UniProtKB: Q131443   

Export aliases for EIF2B5 gene to outside databases

Previous GC identifers: GC03P180769 GC03P184848 GC03P185255 GC03P185173 GC03P185335 GC03P181260


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for EIF2B5 Gene:
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)

GeneCards Summary for EIF2B5 Gene: 
EIF2B5 (eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa) is a protein-coding gene. Diseases associated with EIF2B5 include eif2b5-related childhood ataxia with central nervous system hypomyelination/vanishing white matter, and ovarioleukodystrophy, and among its related super-pathways are GTP hydrolysis and joining of the 60S ribosomal subunit and Translation Insulin regulation of translation. GO annotations related to this gene include transferase activity and guanyl-nucleotide exchange factor activity.

UniProtKB/Swiss-Prot: EI2BE_HUMAN, Q13144
Function: Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP

Gene Wiki entry for EIF2B5 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EIF2B5 gene promoter:
         TBP   CREB   AREB6   FAC1   POU2F1   POU2F1a   MyoD   HNF-4alpha2   LCR-F1   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEIF2B5 promoter sequence
   Search SABiosciences Chromatin IP Primers for EIF2B5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EIF2B5


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

Entrez Gene cytogenetic band: 3q27.1   Ensembl cytogenetic band:  3q27.1   HGNC cytogenetic band: 3q27.3

EIF2B5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EIF2B5 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P183852:  view genomic region     (about GC identifiers)

Start:
183,852,810 bp from pter      End:
184,402,546 bp from pter
Size:
549,737 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: EI2BE_HUMAN, Q13144 (See protein sequence)
Recommended Name: Translation initiation factor eIF-2B subunit epsilon  
Size: 721 amino acids; 80380 Da
Subunit: Complex of five different subunits; alpha, beta, gamma, delta and epsilon. Interacts with RGS2
1 PDB 3D structure from and Proteopedia for EIF2B5:
3JUI (3D)    
Secondary accessions: Q541Z1 Q96D04

Explore the universe of human proteins at neXtProt for EIF2B5: NX_Q13144

Explore proteomics data for EIF2B5 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated at Ser-544 by DYRK2; this is required for subsequent phosphorylation by GSK3B (By similarity).
    Phosphorylated on serine and threonine residues by GSK3B; phosphorylation inhibits its function
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13144

  • EIF2B5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EIF2B5 Protein Expression
    REFSEQ proteins: NP_003898.2  
    ENSEMBL proteins: 
     ENSP00000273783   ENSP00000414775   ENSP00000409142   ENSP00000408198  
    Reactome Protein details: Q13144
    Human Recombinant Protein Products for EIF2B5: 
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    Cloud-Clone Corp. Proteins for EIF2B5 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm IDA11323413
    GO:0005829cytosol TAS--
    GO:0005851eukaryotic translation initiation factor 2B complex IDA11323413

    EIF2B5 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR001451 Hexapep_transf
     IPR016021 MIF4-like_typ_1/2/3
     IPR011004 Trimer_LpxA-like
     IPR003307 W2_domain
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q13144

    ProtoNet protein and cluster: Q13144

    2 Blocks protein domains:
    IPB001451 Bacterial transferase hexapeptide repeat
    IPB003307 eIF4-gamma/eIF5/eIF2-epsilon


    UniProtKB/Swiss-Prot: EI2BE_HUMAN, Q13144
    Similarity: Belongs to the eIF-2B gamma/epsilon subunits family
    Similarity: Contains 1 W2 domain


    EIF2B5 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EI2BE_HUMAN, Q13144
    Function: Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP

         Genatlas biochemistry entry for EIF2B5:
    eukariotic translation initiation factor 2B,subunit 5,ubiquitously expressed (epsilon,82kDa)

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003743translation initiation factor activity NAS8688466
    GO:0005085guanyl-nucleotide exchange factor activity ISS--
    GO:0005488binding ----
    GO:0005515protein binding IPI15060152
    GO:0016740transferase activity ----
         
    EIF2B5 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for EIF2B5:
     Decreased number of cells in m  Nuclear pre-40S maturation def 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Eif2b5):
     adipose tissue  behavior/neurological  cardiovascular system  hematopoietic system  homeostasis/metabolism 
     immune system  nervous system 

    EIF2B5 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for EIF2B5 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EIF2B5 
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    SwitchGear 3'UTR luciferase reporter plasmidEIF2B5 3' UTR sequence
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for EIF2B5 About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Viral mRNA Translation
    Cap-dependent Translation Initiation0.94
    Translation0.78
    Eukaryotic Translation Initiation0.94
    2Translation Insulin regulation of translation
    Translation Insulin regulation of translation0.59
    Translation Regulation activity of EIF20.47
    Regulation of lipid metabolism Insulin signaling:generic cascades0.59
    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

    3 EMD Millipore Pathways for EIF2B5
        Translation Insulin regulation of translation
    Translation Regulation activity of EIF2
    Regulation of lipid metabolism Insulin signaling-generic cascades

    5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for EIF2B5
        IGF1R Signaling
    GSK3 Signaling
    eIF2 Pathway
    Signaling Involved in Cardiac Hypertrophy
    Insulin Receptor Pathway

    1 Cell Signaling Technology (CST) Pathway for EIF2B5
        Translational Control

    3 GeneGo (Thomson Reuters) Pathways for EIF2B5
        Translation Insulin regulation of translation
    Regulation of lipid metabolism Insulin signaling-generic cascades
    Translation Regulation of EIF2 activity

    2 BioSystems Pathways for EIF2B5
        MicroRNAs in cardiomyocyte hypertrophy
    Translation Factors

    5/6        Reactome Pathways for EIF2B5 (see all 6)
        Cap-dependent Translation Initiation
    Translation
    Eukaryotic Translation Initiation
    Metabolism of proteins
    Gene Expression


    1         Kegg Pathway  (Kegg details for EIF2B5):
        RNA transport


    EIF2B5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EIF2B5

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

    5/58 Interacting proteins for EIF2B5 (Q131443 ENSP000002737834) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF2B4Q9UI103, ENSP000003948694I2D: score=6 STRING: ENSP00000394869
    EIF2S1P051983, ENSP000002563834I2D: score=5 STRING: ENSP00000256383
    EIF2S3P410913, ENSP000002530394I2D: score=5 STRING: ENSP00000253039
    CSNK2A2P197843, ENSP000002625064I2D: score=2 STRING: ENSP00000262506
    GSK3AP498403, ENSP000002223304I2D: score=2 STRING: ENSP00000222330
    About this table

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001541ovarian follicle development IMP15507143
    GO:0006412translation TAS--
    GO:0006413translational initiation TAS--
    GO:0006417regulation of translation ----
    GO:0006950response to stress ----

    EIF2B5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    EIF2B5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for EIF2B5 (EI2BE)

    1 HMDB Compound for EIF2B5    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    1 Novoseek inferred chemical compound relationship for EIF2B5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 37.9 2 12624094 (1), 9468292 (1)

    Search CenterWatch for drugs/clinical trials and news about EIF2B5 / EI2BE

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for EIF2B5 gene: 
    NM_003907.2  

    Unigene Cluster for EIF2B5:

    Eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
    Hs.283551  [show with all ESTs]
    Unigene Representative Sequence: AB208821
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000491144(uc003fmp.3 uc003fmq.3) ENST00000273783 ENST00000432569(uc010hxs.3)
    ENST00000444495 ENST00000481054 ENST00000432982 ENST00000471832 ENST00000498831
    ENST00000491008 ENST00000468748 ENST00000479833 ENST00000493740 ENST00000492773
    ENST00000479250 ENST00000465218 ENST00000484154 ENST00000492226

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    Additional mRNA sequence: 

    AB208821.1 AK091646.1 AK307347.1 AK310207.1 AL832179.1 BC013590.1 U23028.1 

    20 DOTS entries:

    DT.216125  DT.100851744  DT.95336650  DT.91660191  DT.95363178  DT.100869521  DT.100650824  DT.100640917 
    DT.100650831  DT.91772504  DT.100650826  DT.91666847  DT.99974746  DT.99998644  DT.100867443  DT.120901263 
    DT.91932555  DT.95247519  DT.95363185  DT.91772506 

    24/364 AceView cDNA sequences (see all 364):

    BE908768 BM455015 AI276352 BM765214 AI687755 BQ682289 BC050476 BE408215 
    BQ186587 BI907368 BI831719 BI755327 BM556639 CK430312 BM801561 BX386720 
    BQ436277 BM464540 BQ943468 BQ184613 BM764499 BU541682 BE047399 BM664767 

    GeneLoc Exon Structure

    5/17 Alternative Splicing Database (ASD) splice patterns (SP) for EIF2B5 (see all 17)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^
    SP1:                                -     -     -                       -     -                                         -                 -                 -   
    SP2:                                -     -     -                       -     -                                                           -                 -   
    SP3:                                                                                                                    -     -     -     -     -     -     -   
    SP4:                                            -                       -     -                                                                                 
    SP5:                                                                    -                                                                                       

    ExUns: 14a · 14b ^ 15a · 15b · 15c · 15d ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b · 19c ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c · 22d
    SP1:              -                 -                                   -           -     -                                       
    SP2:              -                 -                                                                                             
    SP3:              -                 -                                                                                             
    SP4:                                                                                                                              
    SP5:                                                                                                                              


    ECgene alternative splicing isoforms for EIF2B5

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EIF2B5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCTCCCAT
    EIF2B5 Expression
    About this image


    See EIF2B5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EIF2B5

    SOURCE GeneReport for Unigene cluster: Hs.283551
        SABiosciences Custom PCR Arrays for EIF2B5
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for EIF2B5 gene from 10/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Eif2b51 , 5 eukaryotic translation initiation factor 2B, subunit more1, 5 86.59(n)1
    88.55(a)1
      16 (12.45 cM)5
    2240451  NM_172265.21  NP_758469.11 
     204988175 
    chicken
    (Gallus gallus)
    Aves EIF2B51 eukaryotic translation initiation factor 2B, subunit more 72.53(n)
    74.68(a)
      424948  XM_422755.3  XP_422755.3 
    lizard
    (Anolis carolinensis)
    Reptilia EIF2B56
    Uncharacterized protein
    72(a)
    1 ↔ 1
    GL343245.1(1659894-1684970)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.82382 Xenopus laevis transcribed sequence with weak similarity more 73(n)    BQ386154.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufd14g072 Transcribed sequence with weak similarity to protein more 72.72(n)    57055812 
    fruit fly
    (Drosophila melanogaster)
    Insecta eIF2B-&egr;3
    eIF2B-epsilon1
    translational initiation translation
    initiation more3
    CG3806-PA1
    31(a)3
    46.79(n)1
    32.97(a)1
      2B163
    311561  NM_130605.41  NP_569961.21 
    worm
    (Caenorhabditis elegans)
    Secernentea D2085.36
    Protein D2085.3
    25(a)
    1 ↔ 1
    II(8661869-8664722)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GCD6(YDR211W)4
    GCD61
    Catalytic epsilon subunit of the translation initiation more4
    Gcd6p1
    43.47(n)1
    31.28(a)1
      4(884727-886865)4
    8517971, 4  NP_010497.31  NP_010497.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G349701 translation initiation factor eIF-2B epsilon subunit 46.81(n)
    35.44(a)
      818061  NM_129049.2  NP_181042.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g08124001 hypothetical protein 47.81(n)
    37.03(a)
      4331104  NM_001055013.1  NP_001048478.1 


    ENSEMBL Gene Tree for EIF2B5 (if available)
    TreeFam Gene Tree for EIF2B5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/95 SNPs in EIF2B5 are shown (see all 95)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0123334
    Leukodystrophy with vanishing white matter (VWM)4--see VAR_0123332 E K mis40--------
    VAR_0123274
    Leukodystrophy with vanishing white matter (VWM)4--see VAR_0123272 R H mis40--------
    VAR_0122944
    Leukodystrophy with vanishing white matter (VWM)4--see VAR_0122942 W R mis40--------
    VAR_0684604
    Leukodystrophy with vanishing white matter (VWM)4--see VAR_0684602 R C mis40--------
    VAR_0123244
    Leukodystrophy with vanishing white matter (VWM)4--see VAR_0123242 L F mis40--------
    VAR_0122924
    Leukodystrophy with vanishing white matter (VWM)4--see VAR_0122922 R H mis40--------
    VAR_0168464
    Leukodystrophy with vanishing white matter (VWM)4--see VAR_0168462 R H mis40--------
    VAR_0684694
    Leukodystrophy with vanishing white matter (VWM)4--see VAR_0684692 S L mis40--------
    VAR_0684574
    Leukodystrophy with vanishing white matter (VWM)4--see VAR_0684572 D V mis40--------
    VAR_0122934
    Leukodystrophy with vanishing white matter (VWM)4--see VAR_0122932 G V mis40--------

    HapMap Linkage Disequilibrium report for EIF2B5 (183852810 - 184102810 bp, first 250kb of EIF2B5)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for EIF2B5:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv829812CNV Loss17160897


    Human Gene Mutation Database (HGMD): EIF2B5
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603945   
    OMIM disorders: 603896  
    UniProtKB/Swiss-Prot: EI2BE_HUMAN, Q13144
  • 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

  • 16 diseases for EIF2B5:    About MalaCards
    eif2b5-related childhood ataxia with central nervous system hypomyelination/vanishing white matter    ovarioleukodystrophy    megalencephaly    myoclonus epilepsy
    progressive myoclonus epilepsy    myoclonus    leukodystrophy    was-related disorders
    optic atrophy    premature ovarian failure    cerebellar ataxia    ataxia
    major depressive disorder    spasticity    multiple sclerosis    neuronitis


    EIF2B5 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    4 Novoseek inferred disease relationships for EIF2B5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cree leukoencephalopathy 96.5 1 15054402 (1)
    leukodystrophy 91.6 18 15136673 (2), 12836410 (1), 16041584 (1), 16378743 (1) (see all 12)
    neurodegenerative diseases 19 3 16246171 (1), 15060152 (1)
    encephalopathy 18.6 1 15021247 (1)

    GeneTests: EIF2B5
    GeneReviews: EIF2B5
    Genetic Association Database (GAD): EIF2B5
    Human Genome Epidemiology (HuGE) Navigator: EIF2B5 (7 documents)

    Export disorders for EIF2B5 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)
    About This Section

    PubMed articles for EIF2B5 gene, integrated from 9 sources (see all 102):
    (articles sorted by number of sources associating them with EIF2B5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of cDNAs encoding the epsilon-subunit of eukaryotic initiation factor-2B from rabbit and human. (PubMed id 8688466)1, 2, 3 Asuru A.I.... Matts R.L. (1996)
    2. Arg113His mutation of vanishing white matter is not present in multiple sclerosis. (PubMed id 17439913)1, 4, 9 Lucas M....Izquierdo G. (2007)
    3. Genotype-phenotype correlation in vanishing white mat ter disease. (PubMed id 20975056)1, 4 van der Lei H.D....van der Knaap M.S. (2010)
    4. 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. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. 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. (2008)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. 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. (2004)
    9. Ovarian failure related to eukaryotic initiation factor 2B mutations. (PubMed id 12707859)1, 2 Fogli A....Boespflug-Tanguy O. (2003)
    10. Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. (PubMed id 12325082)1, 2 Fogli A.... Schiffmann R. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 8893 HGNC: 3261 AceView: EIF2B5 Ensembl:ENSG00000145191 euGenes: HUgn8893
    ECgene: EIF2B5 Kegg: 8893 H-InvDB: EIF2B5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for EIF2B5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EIF2B5

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for EIF2B5 gene:
    Search GeneIP for patents involving EIF2B5

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



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    About This Section

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