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EIF2S3 Gene

protein-coding   GIFtS: 69
GCID: GC0XP024072

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

(Previous names: eukaryotic translation initiation factor 2, subunit 3 (gamma,...)
(Previous symbol: EIF2G)
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Aliases
for EIF2S3 gene

(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 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


Summaries
for EIF2S3 gene

(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 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. 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


Genomic Views
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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_167197.2  
Regulatory elements:
   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 plasmid: EIF2S3 promoter sequence
   Search Chromatin IP Primers for EIF2S3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

Proteins
for EIF2S3 gene

(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: 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: 

  • Ubiquitination2 at Lys27, Lys59, Lys90, Lys121, Lys196, Lys275, Lys289, Lys342
  • Modification sites at PhosphoSitePlus

    • See EIF2S3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001406.1  
    ENSEMBL proteins: 
     ENSP00000253039   ENSP00000391383  
    Reactome Protein details: P41091

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    Domains /
    Families
    for EIF2S3 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    TryGeneCards Plus    		 Selected 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


    Function
    for EIF2S3 gene

    (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: 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:    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:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EIF2S3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EIF2S3
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    miRNA
    Products:            		miRTarBase miRNAs that target EIF2S3:
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    Block miRNA regulation of human, mouse, rat EIF2S3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EIF2S3 (see all 24):
    hsa-miR-607 hsa-miR-137 hsa-miR-548v hsa-miR-221 hsa-miR-132 hsa-miR-373* hsa-miR-3171 hsa-miR-374a*
    SwitchGear 3'UTR luciferase reporter plasmid: EIF2S3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat EIF2S3

    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
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    Localization
    for EIF2S3 gene

    (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
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA--

    EIF2S3 for ontologies           About GeneDecksing


    Pathways & Interactions
    for EIF2S3 gene

    (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 EIF2S3 About   (see all 9)                                                                                              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
    		L13a-mediated translational silencing of Ceruloplasmin expression0.94
    		Eukaryotic Translation Initiation0.89
    		GTP hydrolysis and joining of the 60S ribosomal subunit0.93
    		Translation0.82
    		Cap-dependent Translation Initiation0.89
    3Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
    		Translation initiation complex formation0.91
    		Formation of the ternary complex, and subsequently, the 43S complex0.91
    		Ribosomal scanning and start codon recognition0.91
    		Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S0.90
    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 Downloadable PowerPoint Slides of GeneGlobe 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


    Selected Reactome Pathways for EIF2S3 (see all 6)
        Formation of the ternary complex, and subsequently, the 43S complex
    L13a-mediated translational silencing of Ceruloplasmin expression
    GTP hydrolysis and joining of the 60S ribosomal subunit
    Ribosomal scanning and start codon recognition
    Translation initiation complex formation


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


    EIF2S3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EIF2S3
    Interactions:

        GeneGlobe Interaction Network for EIF2S3

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

    Selected Interacting proteins for EIF2S3 (P410911, 2, 3 ENSP000002530394) via UniProtKB, MINT, STRING, and/or I2D (see all 1006)
    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:    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



    Drugs & Compounds
    for EIF2S3 gene

    (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 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)



    EIF2S3 for compounds           About GeneDecksing



    Transcripts
    for EIF2S3 gene

    (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 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
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000253039(uc004dbc.3) ENST00000487075 ENST00000423068 ENST00000460032
    ENST00000457332
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Selected qRT-PCR Assays for microRNAs that regulate EIF2S3 (see all 24):
    hsa-miR-607 hsa-miR-137 hsa-miR-548v hsa-miR-221 hsa-miR-132 hsa-miR-373* hsa-miR-3171 hsa-miR-374a*
    SwitchGear 3'UTR luciferase reporter plasmid: EIF2S3 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat EIF2S3
      QuantiFast Probe-based Assays in human, mouse, rat EIF2S3

    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 

    Selected AceView cDNA sequences (see all 438):

    BM751119 BQ441768 BM821227 CF136987 BM464567 BU615962 AU139597 BI258640 
    BM459962 AW514785 BM453923 N53698 BC011945 BP354235 AA460651 BG574758 
    AI499262 BQ082297 AU125883 AU131880 AA694530 AA025869 AI914895 N46476 

    GeneLoc Exon Structure


    Expression
    for EIF2S3 gene

    (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)
    About This Section

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    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
     selected tissues (see all 5) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 5 entries
             Interzone Cells Stylopod Synovial Joint
             Zeugopod
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Cartilage (Muscoskeletal System)
             Interzone Cells Stylopod Synovial Joint
     
     Ovary (Reproductive System)
     
     Uterus (Reproductive System)
    EIF2S3 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    EIF2S3 Protein Expression

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

    Orthologs
    for EIF2S3 gene

    (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

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for EIF2S3 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Eif2s3x1 , 5 eukaryotic translation initiation factor 2, subunit more1, 5 90.89(n)1
    99.58(a)1    		   X (41.52 cM)5
    269051  NM_012010.31  NP_036140.11 
     941887075 
    chicken
    (Gallus gallus)    		 Aves EIF2S31 eukaryotic translation initiation factor 2, subunit more 84.25(n)
    98.73(a)    		   418597  NM_001006260.1  NP_001006260.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 Uncharacterized protein
    		 97(a)
    		 1 → many
    		 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-2gamma1 Eukaryotic initiation factor 2gamma 67.31(n)
    81.45(a)    		   41843  NM_169629.2  NP_731993.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea Y39G10AR.83
    CELE_Y39G10AR.81    		 CELE_Y39G10AR.81 75(a)3
    65.2(n)1
    75(a)1    		   I(2313312-2315761)3
    1717921  NM_058559.61  NP_490960.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes GCD11(YER025W)4 Gamma subunit of the translation initiation factor more   --   5(205251-206834) 856746  NP_010942.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons EIF2 GAMMA1 EIF2 GAMMA 64.9(n)
    72.35(a)    		   839238  NM_100298.2  NP_171913.1 
    rice
    (Oryza sativa)    		 Liliopsida Os12g06071001 Os12g0607100 66.59(n)
    74.34(a)    		   4352748  NM_001073765.1  NP_001067233.1 


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

    Paralogs
    for EIF2S3 gene

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


    Genomic Variants
    for EIF2S3 gene

    (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)
    About This Section

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    Selected SNPs for EIF2S3 (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EIF2S3
    DNA2.0 Custom Variant and Variant Library Synthesis for EIF2S3

    Disorders / Diseases
    for EIF2S3 gene

    (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

    TryGeneCards Plus    		 OMIM gene information: 300161    OMIM disorders: --

    13 diseases for EIF2S3:    About MalaCards
    intellectual disability    intrahepatic cholangiocarcinoma    cholangiocarcinoma    hepatitis c virus
    hepatitis c    pneumonia    arthritis    rheumatoid arthritis
    hepatitis    neuroblastoma    prostate cancer    hiv-1
    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

    Publications
    for EIF2S3 gene

    (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

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    PubMed articles for EIF2S3 gene, integrated from 10 sources (see all 87):
    (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. (J. Biol. Chem. 1994)
    2. Association of the X-chromosomal genes TIMP1 and IL9R with rheumatoid arthritis. (PubMed id 19723899)1, 4 Burkhardt J....Ahnert P. (J. Rheumatol. 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. (Genome Res. 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. (Nat. Biotechnol. 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. (Hum. Mol. Genet. 1998)
    6. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    7. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    10. Targeted ubiquitination and degradation of G-protein-coupled receptor kinase 5 by the DDB1-CUL4 ubiquitin ligase complex. (PubMed id 22952844)1 Wu Z....Ma L. (PLoS ONE 2012)

    External Searches for EIF2S3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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

    Genome Databases showing EIF2S3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 1968 HGNC: 3267 AceView: EIF2S3 Ensembl:ENSG00000130741 euGenes: HUgn1968
    ECgene: EIF2S3 Kegg: 1968 H-InvDB: EIF2S3

    Other Databases showing EIF2S3 gene

    (According to HUGE)
    About This Section

    TryGeneCards Plus    		   --

    Specialized Databases showing EIF2S3 gene

    (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 EIF2S3 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for EIF2S3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		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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