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

EIF2S3 Gene

protein-coding   GIFtS: 68
GCID: GC0XP024072

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

(Previous names: eukaryotic translation initiation factor 2, subunit 3 (gamma,...)
(Previous symbol: EIF2G)
Microbiology & Infectious Diseases Congress
  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)
About This Section

Aliases
Eukaryotic Translation Initiation Factor 2, Subunit 3 Gamma, 52kDa1 2     Eukaryotic Translation Initiation Factor 2, Subunit 3 (Gamma, 52kD)1
EIF2G1 2 3 5     EIF22
Eukaryotic Translation Initiation Factor 2G1 2     EIF2gamma2
Eukaryotic Translation Initiation Factor 2 Subunit Gamma X2 3     eIF-2gA2
eIF-2gX2 3     Eukaryotic Translation Initiation Factor 2 Subunit 32
EIF-2-Gamma X2 3     

External Ids:    HGNC: 32671   Entrez Gene: 19682   Ensembl: ENSG000001307417   OMIM: 3001615   UniProtKB: P410913   

Export aliases for EIF2S3 gene to outside databases

Previous GC identifers: GC0XP022888 GC0XP022719 GC0XP023275 GC0XP023434 GC0XP023832 GC0XP023982 GC0XP021816


(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 EIF2S3 Gene:
The protein encoded by this gene is the largest subunit of a heterotrimeric GTP-binding protein involved in the
recruitment of methionyl-tRNA(i) to the 40 S ribosomal subunit. (provided by RefSeq, Jan 2010)

GeneCards Summary for EIF2S3 Gene: 
EIF2S3 (eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa) is a protein-coding gene. Diseases associated with EIF2S3 include intellectual disability, and intrahepatic cholangiocarcinoma, and among its related super-pathways are Eukaryotic Translation Initiation and Formation of the ternary complex, and subsequently, the 43S complex. GO annotations related to this gene include GTP binding and translation initiation factor activity. An important paralog of this gene is LOC255308.

UniProtKB/Swiss-Prot: IF2G_HUMAN, P41091
Function: eIF-2 functions in the early steps of protein synthesis by forming a ternary complex with GTP and
initiator tRNA. This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S
preinitiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by
hydrolysis of the GTP bound to eIF-2 and release of an eIF-2-GDP binary complex. In order for eIF-2 to recycle
and catalyze another round of initiation, the GDP bound to eIF-2 must exchange with GTP by way of a reaction
catalyzed by eIF-2B

Gene Wiki entry for EIF2S3 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_000023.10  NC_018934.2  NT_167197.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EIF2S3 gene promoter:
         Max1   SREBP-1c   Tal-1beta   SREBP-1b   POU2F1   SREBP-1a   POU2F1a   Cart-1   Sox9   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEIF2S3 promoter sequence
   Search SABiosciences Chromatin IP Primers for EIF2S3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EIF2S3


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

Entrez Gene cytogenetic band: Xp22.2-p22.1   Ensembl cytogenetic band:  Xp22.11   HGNC cytogenetic band: Xp22.2-p22.1

EIF2S3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EIF2S3 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP024072:  view genomic region     (about GC identifiers)

Start:
24,072,833 bp from pter      End:
24,096,927 bp from pter
Size:
24,095 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: IF2G_HUMAN, P41091 (See protein sequence)
Recommended Name: Eukaryotic translation initiation factor 2 subunit 3  
Size: 472 amino acids; 51109 Da
Subunit: Heterotrimer composed of an alpha, a beta and a gamma chain
Secondary accessions: B5BTZ4

Explore the universe of human proteins at neXtProt for EIF2S3: NX_P41091

Explore proteomics data for EIF2S3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P41091

  • EIF2S3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EIF2S3 Protein Expression
    REFSEQ proteins: NP_001406.1  
    ENSEMBL proteins: 
     ENSP00000253039   ENSP00000391383  
    Reactome Protein details: P41091
    Human Recombinant Protein Products for EIF2S3: 
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    Cloud-Clone Corp. Proteins for EIF2S3 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    EIF2S3 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
    5/6 InterPro protein domains (see all 6):
     IPR027417 P-loop_NTPase
     IPR009001 Transl_elong_EF1A/Init_IF2_C
     IPR000795 EF_GTP-bd_dom
     IPR004161 Transl_elong_EFTu/EF1A_2
     IPR015256 TIF2_gsu_C

    Graphical View of Domain Structure for InterPro Entry P41091

    ProtoNet protein and cluster: P41091

    UniProtKB/Swiss-Prot: IF2G_HUMAN, P41091
    Similarity: Belongs to the GTP-binding elongation factor family. EIF2G subfamily


    EIF2S3 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: IF2G_HUMAN, P41091
    Function: eIF-2 functions in the early steps of protein synthesis by forming a ternary complex with GTP and
    initiator tRNA. This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S
    preinitiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by
    hydrolysis of the GTP bound to eIF-2 and release of an eIF-2-GDP binary complex. In order for eIF-2 to recycle
    and catalyze another round of initiation, the GDP bound to eIF-2 must exchange with GTP by way of a reaction
    catalyzed by eIF-2B

         Genatlas biochemistry entry for EIF2S3:
    eukaryotic translocation initiation factor 2 gamma,escaping X-inactivation

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003743translation initiation factor activity IDA10900014
    GO:0003924GTPase activity IEA--
    GO:0005515protein binding IPI16288713
    GO:0005525GTP binding IEA--
    GO:0008135translation factor activity, nucleic acid binding IDA10900014
         
    EIF2S3 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for EIF2S3:
     Decreased viability of wild-ty  G0/1 arrest  Increased G1 DNA content  Increased gamma-H2AX phosphory 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidEIF2S3 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 EIF2S3 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Viral mRNA Translation
    GTP hydrolysis and joining of the 60S ribosomal subunit0.94
    3' -UTR-mediated translational regulation0.93
    Eukaryotic Translation Initiation0.94
    L13a-mediated translational silencing of Ceruloplasmin expression0.93
    Cap-dependent Translation Initiation0.94
    Translation0.78
    2Translation initiation complex formation
    Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S0.95
    Formation of the ternary complex, and subsequently, the 43S complex0.87
    Ribosomal scanning and start codon recognition0.95
    Translation initiation complex formation0.87
    3Translation Insulin regulation of translation
    Translation Insulin regulation of translation0.59
    Translation Regulation activity of EIF20.47
    4Nanog in Mammalian ESC Pluripotency
    GSK3 Signaling0.61
    5Apoptotic Pathways in Synovial Fibroblasts
    eIF2 Pathway0.60

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for EIF2S3
        Translation Insulin regulation of translation
    Translation Regulation activity of EIF2

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for EIF2S3
        GSK3 Signaling
    eIF2 Pathway

    2 GeneGo (Thomson Reuters) Pathways for EIF2S3
        Translation Insulin regulation of translation
    Translation Regulation of EIF2 activity

    1 BioSystems Pathway for EIF2S3
        Translation Factors

    5/13        Reactome Pathways for EIF2S3 (see all 13)
        Formation of the ternary complex, and subsequently, the 43S complex
    Translation
    GTP hydrolysis and joining of the 60S ribosomal subunit
    Eukaryotic Translation Initiation
    Ribosomal scanning and start codon recognition


    1         Kegg Pathway  (Kegg details for EIF2S3):
        RNA transport


    EIF2S3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EIF2S3

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

    5/965 Interacting proteins for EIF2S3 (P410911, 2, 3 ENSP000002530394) via UniProtKB, MINT, STRING, and/or I2D (see all 965)
    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): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process TAS8106381
    GO:0006412translation TAS--
    GO:0006413translational initiation TAS--
    GO:0010467gene expression TAS--
    GO:0044267cellular protein metabolic process TAS--

    EIF2S3 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

    EIF2S3 for compounds           About GeneDecksing

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

    Browse Tocris compounds for EIF2S3 (IF2G)

    1 HMDB Compound for EIF2S3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    1 DrugBank Compound for EIF2S3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Guanosine-5'-Diphosphate-- 146-91-8target--17139284 17016423 10592235

    3 Novoseek inferred chemical compound relationships for EIF2S3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gtp 69.2 37 2111815 (7), 16246727 (4), 1698457 (3), 2383020 (2) (see all 11)
    gdp 64.3 8 8049218 (2), 1772426 (1), 1772451 (1)
    atp 0 14 2111815 (10)

    Search CenterWatch for drugs/clinical trials and news about EIF2S3 / IF2G

    (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 EIF2S3 gene: 
    NM_001415.3  

    Unigene Cluster for EIF2S3:

    Eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa
    Hs.539684  [show with all ESTs]
    Unigene Representative Sequence: NM_001415
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000253039(uc004dbc.3) ENST00000487075 ENST00000423068 ENST00000460032

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB451230.1 AB451353.1 AF274932.1 AK222577.1 AK290397.1 AK312247.1 BC011945.1 BC019906.1 
    L19161.1 

    20 DOTS entries:

    DT.95237798  DT.447700  DT.100030262  DT.91731366  DT.92458463  DT.100701111  DT.97787287  DT.91658298 
    DT.92458454  DT.121175094  DT.40111550  DT.92458482  DT.121311767  DT.121311768  DT.121311760  DT.91684318 
    DT.92458446  DT.95338524  DT.97855328  DT.97855329 

    24/438 AceView cDNA sequences (see all 438):

    AU131590 AI224376 BM456242 L19161 BM821227 AU139597 BG758429 AU280494 
    N53698 BI258640 BC011945 AI417155 BQ353309 BE252813 CD672734 BM453923 
    BM560059 AU131880 AU125883 AI167556 BQ082151 AA460651 AI634236 AA345041 

    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™, 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

    EIF2S3 expression in normal human tissues (normalized intensities)      EIF2S3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGAACACAA
    EIF2S3 Expression
    About this image


    EIF2S3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 6 entries
             Interzone Cells Stylopod Synovial Joint
             Zeugopod
             limb/hindlimb/leg   
     
     Uterus (Reproductive System)    fully expand to see all 2 entries
             cervix   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Skeletal Muscle (Muscoskeletal System)
             cavities and their linings/intraembryonic coelom/diaphragm   
     
     Head Mesenchyme (Muscoskeletal System)
             Head Mesenchyme

    See EIF2S3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EIF2S3

    SOURCE GeneReport for Unigene cluster: Hs.539684
        SABiosciences Custom PCR Arrays for EIF2S3
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EIF2S3

    (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 EIF2S3 gene from 9/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Eif2s3x5
    Eif2s3y1
    eukaryotic translation initiation factor 2, subunit more1, 5 89.34(n)1
    97.88(a)1
      X (41.52 cM)5
    269081  NM_012011.11  NP_036141.11 
     941887075 
    chicken
    (Gallus gallus)
    Aves EIF2S36
    eukaryotic translation initiation factor 2 subunit...
    97(a)
    1 → many
    1(117665342-117678363)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    96(a)
    possible ortholog
    3(125777817-125792105)
    African clawed frog
    (Xenopus laevis)
    Amphibia eif2s3-prov2 eukaryotic translation initiation factor 2, subunit more 81.58(n)    BC043966.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.266532 Danio rerio eukaryotic translation initiation factor more 80.19(n)    BC055248.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta eIF-2gamma6
    Eukaryotic initiation factor 2gamma
    79(a)
    1 → many
    3R(11083661-11089196)
    worm
    (Caenorhabditis elegans)
    Secernentea Y39G10AR.83   -- 75(a)   I(2313312-2315761)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GCD11(YER025W)4
    GCD111
    Gamma subunit of the translation initiation factor more4
    Gcd11p1
    65.39(n)1
    74.04(a)1
      5(205251-206834)4
    8567461, 4  NP_010942.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G183301 putative translation elongation factor 2EF1A / eIF-2-gamma 64.75(n)
    69.84(a)
      827559  NM_202838.1  NP_974567.1 


    ENSEMBL Gene Tree for EIF2S3 (if available)
    TreeFam Gene Tree for EIF2S3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EIF2S3 gene
    LOC2553082  
    1 SIMAP similar gene for EIF2S3 using alignment to 2 protein entries:     IF2G_HUMAN (see all proteins):
    EIF2S3L

    EIF2S3 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for EIF2S3
    PGOHUM00000244588 PGOHUM00000245661


    (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

    10/444 SNPs in EIF2S3 are shown (see all 444)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs125577851,2
    C,A,H--23986179(+) ggaatC/Gaaccc 1 -- us2k10--------
    rs1927886761,2
    --23986582(+) ATGCAC/TCCCTG 1 -- us2k10--------
    rs1838602861,2
    --23986719(+) TATATA/TTTGAG 1 -- us2k10--------
    rs1881844711,2
    --23986850(+) CAGGCA/GCCCGC 1 -- us2k10--------
    rs341166291,2
    C--23986872(+) TTTTT-/TGTATT 1 -- us2k10--------
    rs1455184501,2
    C--23986980(+) GTGCTA/GGGATT 1 -- us2k10--------
    rs1813013061,2
    --23987085(+) TTCTCA/GGTATT 1 -- us2k10--------
    rs1484214311,2
    --23987244(+) GAAAAA/GCAAAT 1 -- us2k10--------
    rs1856604971,2
    --23987251(+) AAATCA/GCTCAA 1 -- us2k10--------
    rs743616991,2
    C--23987284(+) GTGGGC/TTAAGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for EIF2S3 (24072833 - 24096927 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for EIF2S3:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2740010CNV Deletion23290073
    nsv524256CNV Gain19592680


    Human Gene Mutation Database (HGMD): EIF2S3

    Locus Specific Mutation Databases (LSDB): EIF2S3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing EIF2S3
    DNA2.0 Custom Variant and Variant Library Synthesis for EIF2S3

    (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.)
    About This Section
    OMIM gene information: 300161    OMIM disorders: --

    10 diseases for EIF2S3:    About MalaCards
    intellectual disability    intrahepatic cholangiocarcinoma    cholangiocarcinoma    hepatitis c
    pneumonia    rheumatoid arthritis    arthritis    hepatitis
    prostate cancer    prostatitis


    EIF2S3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): EIF2S3
    Human Genome Epidemiology (HuGE) Navigator: EIF2S3 (1 document)

    Export disorders for EIF2S3 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 EIF2S3 gene, integrated from 9 sources (see all 85):
    (articles sorted by number of sources associating them with EIF2S3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Translation initiation factor eIF-2. Cloning and expression of the human cDNA encoding the gamma-subunit. (PubMed id 8106381)1, 2, 3 Gaspar N.J....Merrick W.C. (1994)
    2. Association of the X-chromosomal genes TIMP1 and IL9R with rheumatoid arthritis. (PubMed id 19723899)1, 4 Burkhardt J....Ahnert P. (2009)
    3. 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)
    4. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)
    5. Characterization of genes encoding translation initiation factor eIF- 2gamma in mouse and human: sex chromosome localization, escape from X- inactivation and evolution. (PubMed id 9736774)1, 3 Ehrmann I.E.... Scott D.M. (1998)
    6. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    9. Targeted ubiquitination and degradation of G-protein-c oupled receptor kinase 5 by the DDB1-CUL4 ubiquitin ligase complex. (PubMed id 22952844)1 Wu Z....Ma L. (2012)
    10. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 1968 HGNC: 3267 AceView: EIF2S3 Ensembl:ENSG00000130741 euGenes: HUgn1968
    ECgene: EIF2S3 Kegg: 1968 H-InvDB: EIF2S3

    (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 EIF2S3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for EIF2S3 gene:
    Search GeneIP for patents involving EIF2S3

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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