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EEF1A2 Gene

protein-coding   GIFtS: 65
GCID: GC20M062119

Eukaryotic Translation Elongation Factor 1 Alpha 2

(Previous names: statin-like, statin)
(Previous symbols: STNL, STN)
Alzheimer's & Parkinson's Diseases Congress
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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)
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Aliases
Eukaryotic Translation Elongation Factor 1 Alpha 21 2     statin-like1
STN1 2 3     EF1A2
STNL1 2     HS12
Eukaryotic Elongation Factor 1 A-22 3     Elongation Factor 1-Alpha 22
EEF1AL2 3     statin-S12
EF-1-alpha-22 3     Statin-S13
statin1     eEF1A-23

External Ids:    HGNC: 31921   Entrez Gene: 19172   Ensembl: ENSG000001012107   OMIM: 6029595   UniProtKB: Q056393   

Export aliases for EEF1A2 gene to outside databases

Previous GC identifers: GC20M061996 GC20M062798 GC20M062845 GC20M061589 GC20M058848


(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 EEF1A2 Gene:
This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the
enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and
skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and
pancreas. This gene may be critical in the development of ovarian cancer. (provided by RefSeq, Mar 2014)

GeneCards Summary for EEF1A2 Gene:
EEF1A2 (eukaryotic translation elongation factor 1 alpha 2) is a protein-coding gene. Diseases associated with EEF1A2 include familial hyperlipidemia, and legionellosis. GO annotations related to this gene include translation factor activity, nucleic acid binding and GTP binding. An important paralog of this gene is EEF1A1.

UniProtKB/Swiss-Prot: EF1A2_HUMAN, Q05639
Function: This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during
protein biosynthesis

Gene Wiki entry for EEF1A2 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_000020.11  NC_018931.2  NT_011362.11  
Regulatory elements:
   Regulatory transcription factor binding sites in the EEF1A2 gene promoter:
         SRF   NF-1   STAT1   Pax-5   SRF (504 AA)   Nkx2-5   FOXO1a   ATF   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEEF1A2 promoter sequence
   Search Chromatin IP Primers for EEF1A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EEF1A2


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

Entrez Gene cytogenetic band: 20q13.3   Ensembl cytogenetic band:  20q13.33   HGNC cytogenetic band: 20q13.3

EEF1A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EEF1A2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M062119:  view genomic region     (about GC identifiers)

Start:
62,119,366 bp from pter      End:
62,130,505 bp from pter
Size:
11,140 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: EF1A2_HUMAN, Q05639 (See protein sequence)
Recommended Name: Elongation factor 1-alpha 2  
Size: 463 amino acids; 50470 Da
Subunit: Monomer (By similarity)
1 PDB 3D structure from and Proteopedia for EEF1A2:
3C5J (3D)    
Secondary accessions: B5BUF3 E1P5J1 P54266 Q0VGC7

Explore the universe of human proteins at neXtProt for EEF1A2: NX_Q05639

Explore proteomics data for EEF1A2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys20, Lys30, Lys41, Lys44, Lys62, Lys146, Lys172, Lys255
  • Modification sites at PhosphoSitePlus

  • See EEF1A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001949.1  
    ENSEMBL proteins: 
     ENSP00000298049   ENSP00000217182  
    Reactome Protein details: Q05639

    EEF1A2 Human Recombinant Protein Products:

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    Novus Biologicals EEF1A2 Proteins
    Novus Biologicals EEF1A2 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

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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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    Selected InterPro protein domains (see all 7):
     IPR027417 P-loop_NTPase
     IPR009001 Transl_elong_EF1A/Init_IF2_C
     IPR000795 EF_GTP-bd_dom
     IPR004160 Transl_elong_EFTu/EF1A_C
     IPR004161 Transl_elong_EFTu/EF1A_2

    Graphical View of Domain Structure for InterPro Entry Q05639

    ProtoNet protein and cluster: Q05639

    1 Blocks protein domain: IPB004160 Elongation factor Tu

    UniProtKB/Swiss-Prot: EF1A2_HUMAN, Q05639
    Similarity: Belongs to the GTP-binding elongation factor family. EF-Tu/EF-1A subfamily


    EEF1A2 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: EF1A2_HUMAN, Q05639
    Function: This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during
    protein biosynthesis

         Genatlas biochemistry entry for EEF1A2:
    eukaryotic translation elongation factor 1,alpha 2,expressed in a tissue specific pattern

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003746translation elongation factor activity IEA--
    GO:0003924GTPase activity IEA--
    GO:0005515protein binding ----
    GO:0005525GTP binding IEA--
    GO:0008135translation factor activity, nucleic acid binding NAS8812466
         
    EEF1A2 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Eef1a2):
     behavior/neurological  cellular  growth/size/body  hematopoietic system  immune system 
     mortality/aging  muscle  nervous system 

    EEF1A2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EEF1A2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EEF1A2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EEF1A2

    miRNA
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    miRTarBase miRNAs that target EEF1A2:
    hsa-mir-215-5p (MIRT024775), hsa-mir-342-3p (MIRT043720), hsa-mir-192-5p (MIRT026692), hsa-mir-155-5p (MIRT020876)

    Block miRNA regulation of human, mouse, rat EEF1A2 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate EEF1A2:
    hsa-miR-877* hsa-miR-3654 hsa-miR-492 hsa-miR-3166 hsa-miR-663 hsa-miR-1238 hsa-miR-1908 hsa-miR-181a-2*
    SwitchGear 3'UTR luciferase reporter plasmidEEF1A2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for EEF1A2
    Predesigned siRNA for gene silencing in human, mouse, rat EEF1A2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: EEF1A2 (NM_001958)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EEF1A2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EEF1A2


    (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 UniProtKB/Swiss-Prot
    EF1A2_HUMAN, Q05639: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005853eukaryotic translation elongation factor 1 complex IEA--
    GO:0043025neuronal cell body IEA--

    EEF1A2 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 EEF1A2 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Influenza Viral RNA Transcription and Replication
    Eukaryotic Translation Elongation0.93
    Translation0.82
    2Gene Expression
    Gene Expression0.40
    3Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    4Translation Factors
    Translation Factors
    5RNA transport
    RNA transport

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for EEF1A2
        Translation Factors


    1 Reactome Pathway for EEF1A2
        Eukaryotic Translation Elongation


    2 Kegg Pathways  (Kegg details for EEF1A2):
        RNA transport
    Legionellosis


    EEF1A2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including EEF1A2: 
              Huntington's Disease in human mouse rat
              Apoptosis 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for EEF1A2

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

    Selected Interacting proteins for EEF1A2 (Q056392, 3 ENSP000002171824) via UniProtKB, MINT, STRING, and/or I2D (see all 317)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NFKB2Q006532, 3MINT-48716 MINT-48580 I2D: score=2 
    TRAF2Q129332, 3MINT-49540 I2D: score=3 
    IKBKGQ9Y6K92, 3MINT-48161 I2D: score=2 
    MAP3K1Q132332, 3MINT-48294 I2D: score=2 
    MAP3K3Q997592, 3MINT-48414 I2D: score=2 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006414translational elongation ----
    GO:0010035response to inorganic substance IEA--
    GO:0043066negative regulation of apoptotic process ----
    GO:1900119positive regulation of execution phase of apoptosis IEA--

    EEF1A2 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 EEF1A2 (EF1A2)

    4 HMDB Compounds for EEF1A2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--



    (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 EEF1A2 gene: 
    NM_001958.3  

    Unigene Cluster for EEF1A2:

    Eukaryotic translation elongation factor 1 alpha 2
    Hs.433839  [show with all ESTs]
    Unigene Representative Sequence: NM_001958
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000298049 ENST00000217182(uc002yfe.1)

    miRNA
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    8 qRT-PCR Assays for microRNAs that regulate EEF1A2:
    hsa-miR-877* hsa-miR-3654 hsa-miR-492 hsa-miR-3166 hsa-miR-663 hsa-miR-1238 hsa-miR-1908 hsa-miR-181a-2*
    SwitchGear 3'UTR luciferase reporter plasmidEEF1A2 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat EEF1A2
      QuantiFast Probe-based Assays in human, mouse, rat EEF1A2

    Additional mRNA sequence: 

    AB451389.1 AK307536.1 BC000432.2 BC018855.2 BC110409.1 L10340.1 X70940.1 

    16 DOTS entries:

    DT.95274009  DT.100763754  DT.99981613  DT.97864018  DT.100850016  DT.100850021  DT.120826333  DT.91718165 
    DT.100039572  DT.100662890  DT.100850017  DT.100850019  DT.120826369  DT.91988739  DT.97787482  DT.97855523 

    Selected AceView cDNA sequences (see all 480):

    CR604699 BX446081 BM703726 BU153799 BQ434847 BQ933254 AA351455 BM847500 
    CR589974 AA326028 BQ430062 BQ924365 CD108878 BQ000190 BM452523 BU154371 
    CR597303 BQ690014 BQ690537 BQ894431 CR616067 BU856758 CR626526 CR621513 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for EEF1A2    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b · 8c
    SP1:              -                                                     -                                       
    SP2:              -                                                                                             
    SP3:                                            -     -     -           -                                       
    SP4:                                                                                                            
    SP5:                                                                                      -                     


    ECgene alternative splicing isoforms for EEF1A2

    (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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    EEF1A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTGCACCTC
    EEF1A2 Expression
    About this image


    EEF1A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 4D20.8, NCr-fac Progenitor
     
     Heart (Cardiovascular System)
     
     Adrenal Gland (Endocrine System)
     
     Skeletal Muscle (Muscoskeletal System)
    EEF1A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EEF1A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.433839

    UniProtKB/Swiss-Prot: EF1A2_HUMAN, Q05639
    Tissue specificity: Brain, heart, and skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Arrays including EEF1A2: 
              Huntington's Disease in human mouse rat
              Apoptosis 384HT in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for EEF1A2
    OriGene qSTAR qPCR primer pairs in human, mouse for EEF1A2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EEF1A2
    QuantiTect SYBR Green Assays in human, mouse, rat EEF1A2
    QuantiFast Probe-based Assays in human, mouse, rat EEF1A2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EEF1A2

    (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 EEF1A2 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Eef1a21 , 5 eukaryotic translation elongation factor 1 alpha 21, 5 89.13(n)1
    99.78(a)1
      2 (103.60 cM)5
    136281  NM_007906.21  NP_031932.11 
     1811476535 
    chicken
    (Gallus gallus)
    Aves EEF1A21 eukaryotic translation elongation factor 1 alpha 2 88.91(n)
    99.57(a)
      419244  NM_001032398.2  NP_001027570.1 
    lizard
    (Anolis carolinensis)
    Reptilia EEF1A26
    eukaryotic translation elongation factor 1 alpha 2...
    99(a)
    1 ↔ 1
    4(154186116-154224079)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC054279.12   -- 79.82(n)    BC054279.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC064291.12   -- 81.52(n)   30516  BC064291.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ef1alpha48D3
    Ef1alpha100E1
    translational elongation translation
    elongation more3
    Elongation factor 1alpha100E1
    84(a)
    (best of 2)3
    77.68(n)1
    83.91(a)1
      48D13
    437361  NM_079872.41  NP_524611.11 
    worm
    (Caenorhabditis elegans)
    Secernentea eft-33 Elongation factor 1-alpha 84(a)   III(7041894-7043435)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TEF26
    Translational elongation factor EF-1 alpha; also e...
    80(a)
    1 → many
    II(477671-479047) YBR118W
    Alicante grape
    (Vitis vinifera)
    eudicotyledons CF207663.12   -- 79.03(n)    CF207663.1 
    rice
    (Oryza sativa)
    Liliopsida Os.126252 Oryza sativa mRNA for EF-1 alpha, complete cds 81.07(n)    AK072648.1 


    ENSEMBL Gene Tree for EEF1A2 (if available)
    TreeFam Gene Tree for EEF1A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EEF1A2 gene
    EEF1A12  
    8 SIMAP similar genes for EEF1A2 using alignment to 1 protein entry:     EF1A2_HUMAN:
    EEF1A1P5    EEF1A1    EEF1A1L14    PTI-1    EEF1A    HBS1L
    GSPT2    GSPT1

    EEF1A2 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for EEF1A2 (see all 20)
    PGOHUM00000238627 PGOHUM00000242626 PGOHUM00000258601 PGOHUM00000239367 PGOHUM00000248554


    (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 EEF1A2 (see all 418)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs347883001,2
    C,F--62118872(+) AACCAC/TGTACA 1 -- int16Minor allele frequency- T:0.15NA EA 248
    rs1902277491,2
    --62118913(+) GGTACA/GGGCTG 1 -- int10--------
    rs14121611,2
    C,F,H--62118936(-) GCTAAG/CCCGGT 1 -- int128Minor allele frequency- C:0.25NS EA NA WA CSA 2771
    rs1420417191,2
    --62118963(+) GTGTGC/TGGGGC 1 -- int10--------
    rs359481221,2
    C,F--62118964(+) TGTGCG/AGGGCC 1 -- int16Minor allele frequency- A:0.15NA EA 248
    rs1828153111,2
    --62119108(+) CCATGA/GAGAAG 1 -- int10--------
    rs17416211,2
    C,F,H--62119121(-) TGGCTG/TTGAGG 1 -- int125Minor allele frequency- T:0.19MN NS EA NA WA CSA 2533
    rs622092781,2
    C,F--62119232(+) GCAGGG/AGACCA 1 -- int15Minor allele frequency- A:0.14NA EA 246
    rs17416201,2
    C,F--62119253(-) TGGGCG/TGTGGG 1 -- int18Minor allele frequency- T:0.20MN NA CSA WA EA 549
    rs124806101,2
    C,F,H--62119318(+) GAGGGG/AGTCCG 1 -- int14Minor allele frequency- A:0.14NA EA 244

    HapMap Linkage Disequilibrium report for EEF1A2 (62119366 - 62130505 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for EEF1A2 (see all 24):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2722932CNV Deletion23290073
    esv2722931CNV Deletion23290073
    nsv3448CNV Insertion18451855
    nsv913213CNV Loss21882294
    nsv913165CNV Loss21882294
    dgv4618n71CNV Loss21882294
    nsv913207CNV Loss21882294
    dgv4636n71CNV Loss21882294
    dgv4630n71CNV Loss21882294
    dgv4639n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): EEF1A2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EEF1A2
    DNA2.0 Custom Variant and Variant Library Synthesis for EEF1A2

    (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: 602959    OMIM disorders: --

    18 diseases for EEF1A2:    
    About MalaCards
    familial hyperlipidemia    legionellosis    ovarian cancer    plasmacytoma
    lung adenocarcinoma    hypercholesterolemia    huntington's disease    intellectual disability
    adenocarcinoma    alzheimer's disease    prostate cancer    lung cancer
    prostatitis    neuroblastoma    malaria    pancreatitis
    hepatocellular carcinoma    neuronitis


    EEF1A2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Human Genome Epidemiology (HuGE) Navigator: EEF1A2 (1 document)

    Export disorders for EEF1A2 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 EEF1A2 gene, integrated from 10 sources (see all 89):
    (articles sorted by number of sources associating them with EEF1A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Tissue-dependent variation in the expression of elongation factor-1 alpha isoforms: isolation and characterisation of a cDNA encoding a novel variant of human elongation-factor 1 alpha. (PubMed id 8354261)1, 2, 3 Knudsen S.M.... Leffers H. (Eur. J. Biochem. 1993)
    2. The human elongation factor 1 A-2 gene (EEF1A2): complete sequence and characterization of gene structure and promoter activity. (PubMed id 10950927)1, 2, 9 Bischoff C.... Leffers H. (Genomics 2000)
    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. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    5. Assignment of human elongation factor 1alpha genes: EEF1A maps to chromosome 6q14 and EEF1A2 to 20q13.3. (PubMed id 8812466)1, 3 Lund A.... Tommerup N. (Genomics 1996)
    6. Cloning of human and mouse brain cDNAs coding for S1, the second member of the mammalian elongation factor-1 alpha gene family: analysis of a possible evolutionary pathway. (PubMed id 7945283)1, 2 Lee S.... Wang E. (Biochem. Biophys. Res. Commun. 1994)
    7. Structural models of human eEF1A1 and eEF1A2 reveal two distinct surface clusters of sequence variation and potential differences in phosphorylation. (PubMed id 19636410)1, 9 Soares D.C....Abbott C.M. (PLoS ONE 2009)
    8. Eukaryotic elongation factor 1A2 cooperates with phosphatidylinositol-4 kinase III beta to stimulate production of filopodia through increased phosphatidylinositol-4,5 bisphosphate generation. (PubMed id 18474610)1, 9 Jeganathan S....Lee J.M. (Mol. Cell. Biol. 2008)
    9. Binding of elongation factor eEF1A2 to phosphatidylinositol 4-kinase beta stimulates lipid kinase activity and phosphatidylinositol 4-phosphate generation. (PubMed id 17088255)1, 9 Jeganathan S. and Lee J.M. (J. Biol. Chem. 2007)
    10. eEF1A2 activates Akt and stimulates Akt-dependent actin remodeling, invasion and migration. (PubMed id 17130842)1, 9 Amiri A....Lee J.M. (Oncogene 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1917 HGNC: 3192 AceView: EEF1A2 Ensembl:ENSG00000101210 euGenes: HUgn1917
    ECgene: EEF1A2 Kegg: 1917 H-InvDB: EEF1A2

    (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 EEF1A2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EEF1A2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EEF1A2 gene:
    Search GeneIP for patents involving EEF1A2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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