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    EEF1A2 eukaryotic translation elongation factor 1 alpha 2 [ Homo sapiens (human) ]

    Gene ID: 1917, updated on 10-Dec-2024

    Summary

    Official Symbol
    EEF1A2provided by HGNC
    Official Full Name
    eukaryotic translation elongation factor 1 alpha 2provided by HGNC
    Primary source
    HGNC:HGNC:3192
    See related
    Ensembl:ENSG00000101210 MIM:602959; AllianceGenome:HGNC:3192
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HS1; STN; EF1A; STNL; DEE33; MRD38; EEF1AL; EIEE33; EF-1-alpha-2
    Summary
    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]
    Expression
    Biased expression in heart (RPKM 211.2), brain (RPKM 133.2) and 3 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See EEF1A2 in Genome Data Viewer
    Location:
    20q13.33
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (63488014..63499083, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (65299508..65311765, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (62119367..62130436, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene potassium voltage-gated channel subfamily Q member 2 Neighboring gene uncharacterized LOC105372721 Neighboring gene KCNQ2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62085825-62086688 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62086689-62087552 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62087803-62088726 Neighboring gene MPRA-validated peak4316 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62100374-62101106 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62101107-62101837 Neighboring gene MPRA-validated peak4318 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62109338-62110150 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62110151-62110962 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60987 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62127057-62127852 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60996 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62129445-62130240 Neighboring gene uncharacterized LOC124904955 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62130501-62131070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62133167-62133672 Neighboring gene uncharacterized LOC105372725 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62133673-62134178 Neighboring gene uncharacterized LOC102723814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62149497-62150374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62150375-62151251 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62151252-62152128

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Developmental and epileptic encephalopathy, 33
    MedGen: C4225337 OMIM: 616409 GeneReviews: Not available
    not available
    Intellectual disability, autosomal dominant 38
    MedGen: C4225343 OMIM: 616393 GeneReviews: Not available
    not available

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2023-06-13)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2023-06-13)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat EF-1alpha stimulates the binding of RNA Polymerase II and TRP-185 to HIV-1 TAR RNA, suggesting an interaction between EF-1alpha and HIV-1 Tat PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ41696

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables translation elongation factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables translation factor activity, RNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of lipid kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of chaperone-mediated autophagy NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in translation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in translational elongation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic side of lysosomal membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of eukaryotic translation elongation factor 1 complex IEA
    Inferred from Electronic Annotation
    more info
     
    NOT located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    elongation factor 1-alpha 2
    Names
    eukaryotic elongation factor 1 A-2
    statin-S1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_034083.2 RefSeqGene

      Range
      5000..16069
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001958.5NP_001949.1  elongation factor 1-alpha 2

      See identical proteins and their annotated locations for NP_001949.1

      Status: REVIEWED

      Source sequence(s)
      AL121829
      Consensus CDS
      CCDS13522.1
      UniProtKB/Swiss-Prot
      B5BUF3, E1P5J1, P54266, Q05639, Q0VGC7
      UniProtKB/TrEMBL
      A0A9L9PXK0
      Related
      ENSP00000217182.3, ENST00000217182.6
      Conserved Domains (1) summary
      PTZ00141
      Location:1460
      PTZ00141; elongation factor 1- alpha; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      63488014..63499083 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      65299508..65311765 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)