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    EIF2S2 eukaryotic translation initiation factor 2 subunit beta [ Homo sapiens (human) ]

    Gene ID: 8894, updated on 3-Nov-2024

    Summary

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    Official Symbol
    EIF2S2provided by HGNC
    Official Full Name
    eukaryotic translation initiation factor 2 subunit betaprovided by HGNC
    Primary source
    HGNC:HGNC:3266
    See related
    Ensembl:ENSG00000125977 MIM:603908; AllianceGenome:HGNC:3266
    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
    EIF2; EIF2B; PPP1R67; EIF2beta; eIF-2-beta
    Summary
    Eukaryotic translation initiation factor 2 (EIF-2) functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA and binding to a 40S ribosomal subunit. EIF-2 is composed of three subunits, alpha, beta, and gamma, with the protein encoded by this gene representing the beta subunit. The beta subunit catalyzes the exchange of GDP for GTP, which recycles the EIF-2 complex for another round of initiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
    Expression
    Ubiquitous expression in placenta (RPKM 24.2), thyroid (RPKM 22.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EIF2S2 in Genome Data Viewer
    Location:
    20q11.22
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (34088309..34112243, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (35814716..35838620, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (32676115..32700049, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:32580634-32581160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12829 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12830 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32586597-32587097 Neighboring gene RALY antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:32598140-32598817 Neighboring gene RALY heterogeneous nuclear ribonucleoprotein Neighboring gene Sharpr-MPRA regulatory region 13564 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:32633616-32634424 Neighboring gene microRNA 4755 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:32664206-32665405 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32698990-32699652 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32699653-32700314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12832 Neighboring gene Sharpr-MPRA regulatory region 7536 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:32731215-32731715 Neighboring gene ribosomal protein S2 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:32741705-32742632 Neighboring gene agouti signaling protein Neighboring gene exportin for tRNA pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Structure of the beta subunit of translational initiation factor eIF-2. Pathak VK, et al. Cell, 1988 Aug 26. PMID 3044606
    2. eIF2β, a subunit of translation-initiation factor EIF2, is a potential therapeutic target for non-small cell lung cancer. Tanaka I, et al. Cancer Sci, 2018 Jun. PMID 29624814, Free PMC Article
    3. Genomic cloning and characterization of the human eukaryotic initiation factor-2beta promoter. Chiorini JA, et al. J Biol Chem, 1999 Feb 12. PMID 9933616
    4. Recruitment of trimeric eIF2 by phosphatase non-catalytic subunit PPP1R15B. Fatalska A, et al. Mol Cell, 2024 Feb 1. PMID 38159565, Free PMC Article
    5. Association of eukaryotic translation initiation factor eIF2B with fully solubilized CXCR4. Palmesino E, et al. J Leukoc Biol, 2016 Jun. PMID 26609049

    See all (181) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Recruitment of trimeric eIF2 by phosphatase non-catalytic subunit PPP1R15B.
      Title: Recruitment of trimeric eIF2 by phosphatase non-catalytic subunit PPP1R15B.
    2. RBP EIF2S2 Promotes Tumorigenesis and Progression by Regulating MYC-Mediated Inhibition via FHIT-Related Enhancers.
      Title: RBP EIF2S2 Promotes Tumorigenesis and Progression by Regulating MYC-Mediated Inhibition via FHIT-Related Enhancers.
    3. Data suggest that eukaryotic translation initiation factor 2 subunit beta (eIF2beta) is a therapeutic target for lung cancer.
      Title: eIF2β, a subunit of translation-initiation factor EIF2, is a potential therapeutic target for non-small cell lung cancer.
    4. Mass spectrometry of CXCR4 immunoprecipitates revealed a specific interaction with the pentameric eukaryotic translation initiation factor 2B.
      Title: Association of eukaryotic translation initiation factor eIF2B with fully solubilized CXCR4.
    5. This study provides mechanistic insight into the role of eIF5-carboxyl terminal domain's dynamic interplay with eIF1 and eIF2beta
      Title: The C-terminal domain of eukaryotic initiation factor 5 promotes start codon recognition by its dynamic interplay with eIF1 and eIF2β.
    6. These findings suggest that alpha and beta subunits of eIF2 interact with each other and the beta-subunit plays a critical role both in the regulation and function of eIF2.
      Title: Intersubunit and interprotein interactions of alpha- and beta-subunits of human eIF2: Effect of phosphorylation.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Rev rev HIV-1 Rev interacting protein, eukaryotic translation initiation factor 2 subunit 2 (EIF2S2), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa. The interaction of Rev with EIF2S2 is increased by RRE PubMed
    Tat tat HIV-1 Tat competes with eukaryotic initiation factor 2, a well characterized substrate of PKR, for phosphorylation by activated PKR PubMed
    tat Eukaryotic translation initiation factor 2 (eIF2) recognizes and binds the TAR secondary structure in HIV-1 RNA, suggesting a role in Tat transactivation of the viral LTR promoter PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC8508, DKFZp686L18198

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables translation factor activity, RNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables translation initiation factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables translation initiation factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables translation initiation factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cytoplasmic translational initiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in formation of translation preinitiation complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in male germ cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in male gonad development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in translational initiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of eukaryotic translation initiation factor 2 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of eukaryotic translation initiation factor 2 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of eukaryotic translation initiation factor 2 complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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

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    Preferred Names
    eukaryotic translation initiation factor 2 subunit 2
    Names
    eIF2-beta
    eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa
    protein phosphatase 1, regulatory subunit 67

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001316363.2 → NP_001303292.1  eukaryotic translation initiation factor 2 subunit 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AL031668, BX429051, CA436754, HY005227
      UniProtKB/TrEMBL
      B5BU01
      Conserved Domains (1) summary
      smart00653
      Location:196 → 305
      eIF2B_5; domain present in translation initiation factor eIF2B and eIF5

    2. NM_001316364.2 → NP_001303293.1  eukaryotic translation initiation factor 2 subunit 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' end compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AL031668, BX418731, CA436754, HY005227
      UniProtKB/TrEMBL
      B5BU01
      Conserved Domains (1) summary
      smart00653
      Location:199 → 289
      eIF2B_5; domain present in translation initiation factor eIF2B and eIF5

    3. NM_003908.5 → NP_003899.2  eukaryotic translation initiation factor 2 subunit 2 isoform 1

      See identical proteins and their annotated locations for NP_003899.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL031668, BC000461, CA436754
      Consensus CDS
      CCDS13231.1
      UniProtKB/Swiss-Prot
      P20042, Q9BVU0, Q9UJE4
      UniProtKB/TrEMBL
      B5BU01, Q6IBR8
      Related
      ENSP00000364119.2, ENST00000374980.3
      Conserved Domains (1) summary
      smart00653
      Location:199 → 308
      eIF2B_5; domain present in translation initiation factor eIF2B and eIF5

    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
      34088309..34112243 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028118.2 → XP_016883607.1  eukaryotic translation initiation factor 2 subunit 2 isoform X1

      UniProtKB/TrEMBL
      B5BU01
      Conserved Domains (1) summary
      smart00653
      Location:194 → 303
      eIF2B_5; domain present in translation initiation factor eIF2B and eIF5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      35814716..35838620 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P20042.2 GenPept UniProtKB/Swiss-Prot:P20042

    Gene LinkOut

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